Miracle-dz/UniFAR-FTUs huggingface dataset:
Autism and diagnostic substitution: evidence from a study of adults with a history of developmental language disorder

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A total of 38 adults (aged 15–31y; 31 males, seven females) who had participated in studies of developmental language disorder during childhood were given the Autism Diagnostic Observation Schedule ‐ Generic. Their parents completed the Autism Diagnostic Interview ‐ Revised, which relies largely on symptoms present at age 4 to 5 years to diagnose autism. Eight individuals met criteria for autism on both instruments, and a further four met criteria for milder forms of autistic spectrum disorder. Most individuals with autism had been identified with pragmatic impairments in childhood. Some children who would nowadays be diagnosed unambiguously with autistic disorder had been diagnosed with developmental language disorder in the past. This finding has implications for our understanding of the epidemiology of autism.
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Genome‐wide gene expression profiling of skeletal muscle from Duchenne muscular dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD children older than 5 years. By studying the expression profile of 19 patients younger than 2 years, we describe with high resolution the gene expression signature that characterizes DMD muscle during the initial or “presymptomatic” phase of the disease. We show that in the first 2 years of the disease, DMD muscle is already set to express a distinctive gene expression pattern considerably different from the one expressed by normal, age‐matched muscle. This “dys‐trophic” molecular signature is characterized by a coordinate induction of genes involved in the inflammatory response, extracellular matrix (ECM) remodeling and muscle regeneration, and the reduced transcription of those involved in energy metabolism. Despite the lower degree of muscle dysfunction experienced, our younger patients showed abnormal expression of most of the genes reported as differentially expressed in more advanced stages of the disease. By analyzing our patients as a time series, we provide evidence that some genes, including members of three pathways involved in morphogenetic signaling—Wnt, Notch, and BMP— are progressively induced or repressed in the natural history of DMD. —Pescatori, M. , Broccolini, A. , Minetti, C. , Bertini, E. , Bruno, C. , D'amico, A. , Bernardini, C. , Mirabella, M. , Silvestri, G. , Giglio, V. , Modoni, A. , Pedemonte, M. , Tasca, G. , Galluzzi, G. , Mercuri, E. , Tonali, P. A. , Ricci, E. Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J. 21, 1210–1226 (2007)
Effects of Forest Fragmentation on Seed Dispersal and Seedling Establishment in Ornithochorous Trees

Abstract: Habitat fragmentation increases seed dispersal limitation across the landscape and may also affect subsequent demographic stages such as seedling establishment. Thus, the development of adequate plans for forest restoration requires an understanding of mechanisms by which fragmentation hampers seed delivery to deforested areas and knowledge of how fragmentation affects the relationship between seed‐deposition patterns and seedling establishment. We evaluated the dispersal and recruitment of two bird‐dispersed, fleshy‐fruited tree species (Crataegus monogyna and Ilex aquifolium) in fragmented secondary forests of northern Spain. Forest fragmentation reduced the probability of seed deposition for both trees because of decreased availability of woody perches and fruit‐rich neighborhoods for seed dispersers, rather than because of reductions in tree cover by itself. The effects of fragmentation went beyond effects on the dispersal stage in Crataegus because seedling establishment was proportional to the quantities of bird‐dispersed seeds arriving at microsites. In contrast, postdispersal mortality in Ilex was so high that it obscured the seed‐to‐seedling transition. These results suggest that the effects of fragmentation are not necessarily consistent across stages of recruitment across species. Habitat management seeking to overcome barriers to forest recovery must include the preservation, and even the planting, of fleshy‐fruited trees in the unforested matrix as a measure to encourage frugivorous birds to enter into open and degraded areas. An integrative management strategy should also explicitly consider seed‐survival expectancies at microhabitats to preserve plant‐population dynamics and community structure in fragmented landscapes.
Respiratory Epithelial Cell Expression of Vascular Cell Adhesion Molecule-1 and Its Up-regulation by Rhinovirus Infection via NF-κB and GATA Transcription Factors*

Virus infections, the majority of which are rhinovirus infections, are the major cause of asthma exacerbations. Asthma now affects one-fifth of the population, yet treatment of exacerbations is unsatisfactory, and the pathogenesis is unclear. Intraepithelial lymphocyte and eosinophil infiltration and activation are strongly implicated, but the mechanisms regulating these processes are unknown. We hypothesized that lower airway epithelial expression of vascular cell adhesion molecule-1 (VCAM-1) may be important in intraepithelial inflammation and that expression would be induced by pro-inflammatory stimuli and rhinovirus infection. We investigated respiratory epithelial cell VCAM-1 expression and its regulation to identify new targets for treatment of virus-induced asthma exacerbations. We observed constitutive respiratory epithelial cell VCAM-1 expression and that rhinovirus infection, but no other pro-inflammatory stimuli tested increased VCAM-1 cell surface expression in respiratory epithelial cell lines and primary bronchial epithelial cells. We then observed rhinovirus induction of VCAM-1 mRNA expression, promoter activity, and mRNA transcription. Rhinovirus induction of VCAM-1 promoter activity was critically dependent on up-regulation of proteins binding to the −254/−251 and −239/−236 GATA-binding sites and to the −72/−63 and −57/−48 NF-κB-binding sites in the VCAM-1 promoter. These studies identify VCAM-1 and the NF-κB and GATA transcription factor families as new targets for development of therapeutic interventions for virus-induced asthma exacerbations.
Stronger seed for a multiterawatt few-cycle pulse OPCPA

Summary form only given. Optical parametric chirped pulse amplification is a unique tool for amplification of ultra-broadband pulses to highest energies. In this this paper, we implement a stronger seed source which delivers muJ -level seed pulses with excellent temporal contrast. A 1 kHz, 1 mJ Ti:sapphire amplifier is used as front-end. The output pulses of the Ti:sapphire amplifier are broadened in a hollow-core fiber (HCF) obtaining ultra-broadband pulses with 400 muJ energy. A fraction of this output (50 muJ) is used to generate the seed for a broadband OPCPA in the near infrared.
Optimizing ring assembly reveals the strength of weak interactions

Most cellular processes rely on large multiprotein complexes that must assemble into a well-defined quaternary structure in order to function. A number of prominent examples, including the 20S core particle of the proteasome and the AAA+ family of ATPases, contain ring-like structures. Developing an understanding of the complex assembly pathways employed by ring-like structures requires a characterization of the problems these pathways have had to overcome as they evolved. In this work, we use computational models to uncover one such problem: a deadlocked plateau in the assembly dynamics. When the molecular interactions between subunits are too strong, this plateau leads to significant delays in assembly and a reduction in steady-state yield. Conversely, if the interactions are too weak, assembly delays are caused by the instability of crucial intermediates. Intermediate affinities thus maximize the efficiency of assembly for homomeric ring-like structures. In the case of heteromeric rings, we find that rings including at least one weak interaction can assemble efficiently and robustly. Estimation of affinities from solved structures of ring-like complexes indicates that heteromeric rings tend to contain a weak interaction, confirming our prediction. In addition to providing an evolutionary rationale for structural features of rings, our work forms the basis for understanding the complex assembly pathways of stacked rings like the proteasome and suggests principles that would aid in the design of synthetic ring-like structures that self-assemble efficiently.
Disturbed Appetite Patterns and Nutrient Intake in Peritoneal Dialysis Patients

Objective Malnutrition is common among peritoneal dialysis (PD) patients. Reduced nutrient intake contributes to this. It has long been assumed that this reflects disturbed appetite. We set out to define the appetite profiles of a group of PD patients using a novel technique. Design Prospective, cross-sectional comparison of PD patients versus controls. Setting Teaching hospital dialysis unit. Patients 39 PD patients and 42 healthy controls. Intervention Visual analog ratings were recorded at hourly intervals to generate daily profiles for hunger and fullness. Summary statistics were generated to compare the groups. Food intake was measured using 3-day dietary records. Main Outcome Measures Hunger and fullness profiles. Derived hunger and fullness scores. Results Controls demonstrated peaks of hunger before mealtimes, with fullness scores peaking after meals. The PD profiles had much reduced premeal hunger peaks. A postmeal reduction in hunger was evident, but the rest of the trace was flat. The PD fullness profile was also flatter than in the controls. Mean scores were similar despite the marked discrepancy in the profiles. The PD group had lower peak hunger and less diurnal variability in their hunger scores. They also demonstrated much less change in fullness rating around mealtimes, while the mean and peak fullness scores were little different. The reported nutrient intake was significantly lower for PD. Conclusion The data suggest that PD patients normalize their mean appetite perception at a lower level of nutrient intake than controls, suggesting that patient-reported appetite may be misleading in clinical practice. There is a loss of the usual daily variation for the PD group, which may contribute to their reduced food intake. The technique described here could be used to assess the impact of interventions upon the abnormal PD appetite profile.
Topography of Peribulbar Anesthesia

Background and Objectives. Peribulbar anesthesia has fewer complications than retrobulbar anesthesia, but ocular perforation has also been described in peribulbar anesthesia. This study aims to verify by computed tomography that the recommended points for performing peribulbar anesthesia are safe. Methods. Three human corpses were used. The puncture points were position A (superior internal orbital angle and inferior external orbital angle), position B (superior and inferior orbital median line), and position C (superior external and inferior internal orbital angle). Contrast diffusion was studied in each position at 3, 4, 5, and 10 minutes after contrast injection. Results. Among upper eyelid punctures, the only one anatomically safe is the internal angle puncture, given that either in the median line or the external angle there is a chance of eye globe perforation. Lower eyelid positions are a safe distance from the optic nerve and ocular globe. Contrast diffusion was satisfactory in positions A and B. There was little diffusion in position C. Conclusions. The median or external superior angle eyelid puncture may cause eye globe perforation.
Visual Acuity Development and Fatty Acid Composition of Erythrocytes in Full‐Term Infants Fed Breast Milk, Commercial Formula, or Evaporated Milk

&NA; The effects of feeding breast milk (BM), commercial formula (F), or evaporated cow milk (EM) formula on visual acuity and erythrocyte phosphatidylethanolamine fatty acid levels were examined in full‐term infants. Visual acuity was assessed at 3, 6 (BM, F, EM), and 18 (BM, EM) months, and erythrocyte phosphatidylethanolamine levels were determined at birth, 3, and 6 months of age. Visual acuity was significantly higher in the BM‐fed than in the EM‐fed group at 3 months and at 6 months, with intermediate but not significantly different values in the F‐fed group at both ages. Docosahexaenoic acid levels were significantly higher in the BM‐fed than in the F‐fed or EM‐fed group at 3 and 6 months of age and were lowest in the F‐fed group; this might be related to high levels of linoleic acid in F. F‐fed and EM‐fed infants had lower arachidonic acid levels than did BM‐fed infants at 3 months but not at 6 months.
Cognition in hereditary ataxia

Apart from motor control the cerebellum has been implicated in higher cortical functions such as memory, fronto-executive functions, visuoconstructive skills and emotion. Clinical descriptions of hereditary ataxias mention cognitive impairment to a variable extent. Systematic neuropsychological studies are limited. Regarding the neuropathological pattern in different SCA types, cognitive deficits in hereditary ataxias are not likely to be contingent upon cerebellar degeneration but to result from disruption of cerebrocerebellar circuitries at various levels in the CNS.
Estimating usual intakes mainly affects the micronutrient distribution among infants, toddlers and pre-schoolers from the 2012 Mexican National Health and Nutrition Survey

Abstract Objective To compare estimates from one day with usual intake estimates to evaluate how the adjustment for within-person variability affected nutrient intake and adequacy in Mexican children. Design In order to obtain usual nutrient intakes, the National Cancer Institute’s method was used to correct the first 24 h dietary recall collected in the entire sample (n 2045) with a second 24 h recall collected in a sub-sample (n 178). We computed estimates of one-day and usual intakes of total energy, fat, Fe, Zn and Na. Setting 2012 Mexican National Health and Nutrition Survey. Subjects A total of 2045 children were included: 0–5·9 months old (n 182), 6–11·9 months old (n 228), 12–23·9 months old (n 537) and 24–47·9 months old (n 1098). From these, 178 provided an additional dietary recall. Results Although we found small or no differences in energy intake (kJ/d and kcal/d) between one-day v. usual intake means, the prevalence of inadequate and excessive energy intake decreased somewhat when using measures of usual intake relative to one day. Mean fat intake (g/d) was not different between one-day and usual intake among children >6 months old, but the prevalence of inadequate and excessive fat intake was overestimated among toddlers and pre-schoolers when using one-day intake (P<0·05). Compared with usual intake, estimates from one day yielded overestimated prevalences of inadequate micronutrient intakes but underestimated prevalences of excessive intakes among children aged >6 months. Conclusions There was overall low variability in energy and fat intakes but higher for micronutrients. Because the usual intake distributions are narrower, the prevalence of inadequate/excessive intakes may be biased when estimating nutrient adequacy if one day of data is used.
Anomalous Hall effect in ferromagnetic disordered metals

The anomalous Hall effect in disordered band ferromagnets is considered in the framework of quantum transport theory. A microscopic model of electrons in a random potential of identical impurities including spin‐orbit coupling is used. The Hall conductivity is calculated from the Kubo formula for both, the skew scattering and the side‐jump mechanisms. The recently discussed Berry phase induced Hall current is also evaluated within the model. The effect of strong impurity scattering is analyzed and it is found to affect the ratio of the non‐diagonal (Hall) and diagonal components of the conductivity as well as the relative importance of different mechanisms.
Renal function, concomitant medication use and outcomes following acute coronary syndromes.

BACKGROUND Chronic kidney disease (CKD) is highly prevalent in patients with cardiovascular disease. We explored the associations of CKD with outcomes using combined data from two large acute coronary syndrome (ACS) trials. We also explored the associations of CKD with prescription patterns for common cardiovascular medications and the association of these prescription patterns with clinical outcomes. METHODS Patients were stratified by CKD stage using creatinine clearance (CrCl, ml/min) estimated by the modified MDRD equation using baseline core laboratory creatinine measures. Serum creatinine > or =1.5 mg/dl was an exclusion criterion for the SYMPHONY trials. Baseline characteristics and outcomes across CKD categories were compared and Cox proportional hazards regression was used to assess the relationship of renal insufficiency with clinical outcomes after adjusting for previously identified outcome predictors. Interactions between the use of specific medications and calculated CrCl were tested in the final Cox proportional hazards model predicting time to mortality. RESULTS Of 13 707 patients analysed, 6840 had CKD stage I (CrCl > or =90 ml/min), 5909 stage II (CrCl 60-89 ml/min), 955 stage III (CrCl 30-59 ml/min) and three stage IV (CrCl <30 ml/min). Patients with more advanced CKD (III) were older, more often female, non-smokers and more likely to have co-morbid diseases including diabetes mellitus, hypertension and congestive heart failure. Cardiovascular medications were used less frequently in patients with CKD. Unadjusted survival was poorer in patients with CKD stages > or =II. In adjusted analyses, for those with CrCl < or =91, each 10 ml/min increase in CrCl was associated with a significantly decreased risk of mortality (hazards ratio 0.897, 95% confidence interval 0.815-0.986) (P = 0.024). The interaction between use of angiotensin-converting enzyme (ACE) inhibitors and CrCl was significantly associated with outcomes; the benefit of drug therapy was greater among patients with CKD. CONCLUSIONS CKD is an independent predictor of risk among ACS patients, and is associated with less frequent use of proven medical therapies. More aggressive use of conventional cardiovascular therapies in patients with CKD and ACS may be warranted.
Regulation of Vascular Endothelial Growth Factor Expression by Insulin-Like Growth Factor I

Insulin-like growth factor I (IGF-I) and vascular endothelial growth factor (VEGF) levels are correlated with retinal ischemia-associated intraocular neovascu-larization in humans. Since VEGF is required for iris and retinal neovascularization in animal models of retinal ischemia, we tested whether IGF-I could act as an indirect angiogenic factor by increasing VEGF gene expression. IGF-I increased retinal pigment epithelial (RPE) cell VEGF mRNA in a concentration-dependent manner with an EC50 of 7 nmol/l (53.6 ng/ml). RPE and bovine smooth muscle cells exposed to 50 nmol/1 (383 ng/ml) IGF-I achieved peak VEGF mRNA expression within 2 h. IGF-I-treated RPE cells increased VEGF protein levels in conditioned media and stimulated capillary endothelial cell proliferation. Blockade of the IGF-I receptor with a neutralizing antibody abrogated the VEGF increases in RPE cells. Further, hypoxia-mediated and IGF-I-mediated increases in VEGF mRNA and protein levels were additive in RPE cells, and the hypoxia-induced VEGF increases were independent of endogenous IGF-I. VEGF promoter activity was enhanced by IGF-I in RPE cells, but VEGF transcript half-life was unaltered. In summary, the supplementation of RPE and smooth muscle cell cultures with IGF-I at 5-100 nmol/1 increased VEGF mRNA and secreted protein levels. The VEGF increases in RPE cells occurred primarily through enhanced transcription of the VEGF gene and via the IGF-I receptor. Elevated IGF-I levels may promote neovascularization through increased retinal VEGF gene expression.
Birth-Death and Bug Counting

Many software reliability time-domain bug-counting models are, as fault counters, special cases of the stochastic process known as the death process. Generalization to a nonhomogeneous birth-death process achieves three ends: stochastic fault introduction, the synthesis of a time-dependent failure rate with imperfect debugging and fault introduction, and the mathematical unification of much bug-counting theory. Often, the price for generalization is mathematical intractability. Yet useful and tractable reliability measures with strong intuitive appeal are derived. The paper opens with a brief general discussion of software reliability and a selective review of some bug-counting models. Thereafter, the fundamental concepts and equations of a birth-death process are presented and applied to software reliability modeling. Assumptions for this application are then dealt with at some length. Reliability measures-initial, present, and future - are developed. Finally. the practical application of the model in the reliability assessment of a software package is discussed.
How do experts interpret? Implications from research in Interpreting Studies and cognitive science

In this article, expertise in simultaneous interpreting is defined as the result of well-practiced strategies in each of the comprehension, translation, and production processes, and the interaction among these processes, which are specific to the needs of the task of simultaneous interpreting. What allows the interaction among the comprehension, translation, and production processes to act in sync is interpreters’ ability to manage their mental resources in an efficient manner, particularly in the way attention is managed. Expert-novice difference is examined by comparing skills and sub-skills, by analyzing the cognitive abilities underlying the act of simultaneous interpreting, and by providing evidence and counter-evidence from Interpreting Studies and cognitive science.