Miracle-dz/UniFAR-FTUs huggingface dataset:
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

OBJECTIVE. The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains underdiagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome. METHODS. We assessed neuromotor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. RESULTS. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages ∼3 to 5 years; sensory processing dysfunction; and neuromotor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. CONCLUSIONS. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely underdiagnosed condition.
SGD S MOOTHS THE S HARPEST D IRECTIONS

Stochastic gradient descent (SGD) is able to find regions that generalize well, even in drastically over-parametrized models such as deep neural networks. We observe that noise in SGD controls the spectral norm and conditioning of the Hessian throughout the training. We hypothesize the cause of this phenomenon is due to the dynamics of neurons saturating their non-linearity along the largest curvature directions, thus leading to improved conditioning.
Gene-Specific Signatures of Elevated Non-Synonymous Substitution Rates Correlate Poorly across the Plasmodium Genus

Background Comparative genome analyses of parasites allow large scale investigation of selective pressures shaping their evolution. An acute limitation to such analysis of Plasmodium falciparum is that there is only very partial low-coverage genome sequence of the most closely related species, the chimpanzee parasite P. reichenowi. However, if orthologous genes have been under similar selective pressures throughout the Plasmodium genus then positive selection on the P. falciparum lineage might be predicted to some extent by analysis of other lineages. Principal Findings Here, three independent pairs of closely related species in different sub-generic clades (P. falciparum and P. reichenowi; P. vivax and P. knowlesi; P. yoelii and P. berghei) were compared for a set of 43 candidate ligand genes considered likely to be under positive directional selection and a set of 102 control genes for which there was no selective hypothesis. The ratios of non-synonymous to synonymous substitutions (dN/dS) were significantly elevated in the candidate ligand genes compared to control genes in each of the three clades. However, the rank order correlation of dN/dS ratios for individual candidate genes was very low, less than the correlation for the control genes. Significance The inability to predict positive selection on a gene in one lineage by identifying elevated dN/dS ratios in the orthologue within another lineage needs to be noted, as it reflects that adaptive mutations are generally rare events that lead to fixation in individual lineages. Thus it is essential to complete the genome sequences of particular species of phylogenetic importance, such as P. reichenowi.
The impact of acute and chronic exercise on thrombosis in cardiovascular disease

Summary There is now a large and impressive literature showing that people who engage in chronic aerobic exercise or who have better cardiovascular fitness levels, tend to live longer and have lower levels of cardiovascular disease (CVD). However, there is a paradox, as acute aerobic exercise has been associated with an increased risk of CVD events. There are now a number of review articles suggesting that the differential benefits of chronic, relative to acute, exercise might be due to thrombotic changes, though the majority of this data is derived from healthy individuals. However, acute exercise is of greater concern and chronic exercise of greater benefit to patient populations. In addition, these higher risk groups tend to present with more complex profiles, e.g. they may be taking medications that influence thrombotic pathways. As such, the current review has focused on newer information relating to exercise, physical activity and thrombosis in patient populations, and highlights some of the growing area’s in the field. For example, the impact of warm-up exercise, the interaction of medications, and issues surrounding the optimal volume and intensity of exercise.
Quantifying Strength of Chaos in the Population Firing Rate of Neurons

In this study, I considered quantifying the strength of chaos in the population firing rate of a pulse-coupled neural network. In particular, I considered the dynamics where the population firing rate is chaotic and the firing of each neuron is stochastic. I calculated a time histogram of firings to show the variation in the population firing rate over time. To smooth this histogram, I used Bayesian adaptive regression splines and a gaussian filter. The nonlinear prediction method, based on reconstruction, was applied to a sequence of interpeak intervals in the smoothed time histogram of firings. I propose the use of the sum of nonlinearity as a quantifier of the strength of chaos. When applying this method to the firings of a pulse-coupled neural network, the sum of nonlinearity was seen to satisfy three properties for quantifying the strength of chaos. First, it can be calculated from spiking data alone. Second, it takes large values when applied to firings that are confirmed, theoretically or numerically, to be chaotic. Third, it reflects the strength of chaos of the original dynamics.
A Qualitative Study of Acculturation and Diabetes Risk Among Urban Immigrant Latinas

Purpose The purpose of this qualitative study was to understand how acculturation influences diabetes risk among urban immigrant Latinas (Hispanic women). Methods Five focus groups were conducted with 26 urban immigrant Latinas who were at high clinical risk for developing diabetes. The focus group sessions were audiotaped and transcribed verbatim. The authors independently analyzed transcripts using an inductive method of open coding and established themes by consensus. Results All participants were foreign born and had low levels of acculturation. During the acculturation process, they noted changes in their lifestyle behaviors and the family context in which those behaviors are shaped. They reported that since living in the United States, their improved economic circumstances led to increased consumption of less healthy foods and beverages and a more sedentary lifestyle. They also described changing family roles and responsibilities, including working outside the home, which constrained healthy food choices. However, they perceived that their position of influence within the family offered opportunities to help family members prevent diabetes. Conclusions Lifestyle interventions to prevent diabetes in Latinas should address their acculturation experiences, which affect family functioning and health behaviors related to diabetes risk. For example, given the perceived link between Latinas’ improved economic circumstances and their diabetes risk, prevention programs should incorporate strategies to help Latinas avoid adopting less healthy lifestyle behaviors that become affordable during the acculturation process.
Magnetic fluid hyperthermia enhances cytotoxicity of bortezomib in sensitive and resistant cancer cell lines

The proteasome inhibitor bortezomib (BZ) has shown promising results in some types of cancer, but in others it has had minimal activity. Recent studies have reported enhanced efficacy of BZ when combined with hyperthermia. However, the use of magnetic nanoparticles to induce hyperthermia in combination with BZ has not been reported. This novel hyperthermia modality has shown better potentiation of chemotherapeutics over other types of hyperthermia. We hypothesized that inducing hyperthermia via magnetic nanoparticles (MFH) would enhance the cytotoxicity of BZ in BZ-sensitive and BZ-resistant cancer cells more effectively than hyperthermia using a hot water bath (HWH). Studies were conducted using BZ in combination with MFH in two BZ-sensitive cell lines (MDA-MB-468, Caco-2), and one BZ-resistant cell line (A2780) at two different conditions, ie, 43°C for 30 minutes and 45°C for 30 minutes. These experiments were compared with combined application of HWH and BZ. The results indicate enhanced potentiation between hyperthermic treatment and BZ. MFH combined with BZ induced cytotoxicity in sensitive and resistant cell lines to a greater extent than HWH under the same treatment conditions. The observation that MFH sensitizes BZ-resistant cell lines makes this approach a potentially effective anticancer therapy platform.
RELATIONSHIP BETWEEN THE REPRESENTATIVE VOLUME ELEMENT AND MECHANICAL PROPERTIES OF ASPHALT CONCRETE

The size of an asphalt concrete test specimen has been traditionally determined based on experience and practical purposes. This study discusses theoretical considerations for selecting the minimum dimensions so that the resulting size of the specimen represents global material properties. The ideal size of the specimen was determined using an image analysis approach and was verified with mechanical tests. The image analysis was accomplished by studying the internal structure of asphalt concrete. The internal structure was captured using a nondestructive X-ray computer tomography technique. Mechanical testing was accomplished by using the Superpave Shear Tester on laboratory-prepared samples. The laboratory samples had dimensions that were both smaller and larger than the theoretically determined representative size. Statistical analysis indicates that the variability of the results is a function of the loading mechanism used in the Superpave Shear Tester. In general, the required representative size incr.
Left Ventricular Hypertrophy Regression During Antihypertensive Treatment in an Outpatient Clinic (the Campania Salute Network)

Background Regression of left ventricular (LV) hypertrophy (LVH) has been a goal in clinical trials. This study tests the external validity of results of clinical trials on LVH regression using a large registry from a tertiary care center, to identify phenotypes less likely to achieve regression of LVH. Methods and Results Patients from the Campania Salute Network, free of prevalent cardiovascular disease, but with echocardiographic LVH (defined as LV mass index [LVMi] >47 g/m2.7 in women and >50 g/m2.7 in men) were included. During a median follow‐up of 67 months, clear‐cut regression of LVH was documented in 14% of patients (13±8% reduction of initial LVMi) or 23% when also considering those with a reduction of LVMi ≥5 g/m2.7. Patients with persistent LVH were older with longer duration of hypertension, suboptimal blood pressure (BP) control, larger body mass index, LV mass, and carotid intima‐media thickness and included more women and subjects with diabetes mellitus, isolated systolic hypertension, and metabolic syndrome (all P<0.05). Number and class of antihypertensive drugs during follow‐up did not differ between groups. In multiple logistic regression analysis, older age, female sex, obesity, higher baseline LVMi and carotid intima‐media thickness, and suboptimal BP control were significant covariates of persistent LVH (all P≤0.01), independent of diabetes, duration of hypertension, isolated systolic hypertension, follow‐up time and number and class of antihypertensive drugs. Conclusions Early initiation of antihypertensive treatment, aggressive BP control, and attention to metabolic aspects are critical to avoid irreversible LVH.
Grain refinement during primary breakdown of alloy 718

Grain refinement during primary breakdown of a production size alloy 718 ingot was investigated by compression testing of cylindrical specimens taken from various locations in the ingot cross section. Deformation was applied over a temperature range of 900 to 1150/sup 0/C, at strain rates from 0.1s/sup -1/ to 1.0s/sup -1/, and to strains of 0.25 to 1.0. Variations in grain morphology and orientation had a pronounced effect on the deformed sample geometry but little effect on recrystallization. Recrystallization was observed to nucleate at primary particles and high angle grain boundaries. Static recrystallization rather than dynamic recrystallization was the mechanism responsible for refinement of the coarse cast structure. The cycle time for one pass was identified as the criticl processing variable with respect to microstructural evolution for a set of deformation conditions typically used during breakdown by radial forging. 10 refs., 18 figs.
HER 2 / neu expression correlates with vascular endothelial growth factor-C and lymphangiogenesis in lymph node-positive breast cancer

HER2/neu expression correlates with vascular endothelial growth factor-C and lymphangiogenesis in lymph node-positive breast cancer S. F. Schoppmann*, D. Tamandl, L. Roberts, G. Jomrich, A. Schoppmann, R. Zwrtek, P. Dubsky, M. Gnant, R. Jakesz & P. Birner Departments of Surgery; Anesthesiology, Medical University of Vienna, Vienna; Department of Surgery, Landesklinikum St Poelten, St Poelten; Clinical Institute of Pathology, Medical University of Vienna, Vienna and European Society for Quality in Healthcare, Vienna Office, Vienna, Austria
The Protective Effects of a Polyphenol‐Enriched Protein Powder on Exercise‐Induced Susceptibility to Virus Infection

Prolonged and intensive exercise induces transient immunosuppression and is associated with an increased risk and severity of infections. The goal of this study was to characterize the antiviral and antibacterial properties of the bioactive metabolites of a blueberry–green tea‐polyphenol soy protein complex (PSPC) in the serum of supplemented subjects during a 3‐day intensified training period. Long‐distance runners, randomly divided into two groups, ingested 40 g/day PSPC or placebo (soy protein and colorings) for 17 days, with a 3‐day running period inserted at day 14. Blood serum samples were collected pre‐14 days and post‐14 days supplementation, and immediately and 14 h after the third day of running. The post‐exercise serum from both groups significantly promoted the growth of Escherichia coli and Staphylococcus aureus in culture by 20–70%, but returned to normal levels following recovery. Furthermore, the serum from subjects ingesting PSPC did not display antibacterial properties at any time point. In contrast, there was a significant difference in the ability of serum from PSPC‐supplemented versus placebo‐supplemented athletes to protect cells in culture from killing by vesicular stomatitis virus following strenuous exercise. In addition, the serum of subjects who ingested PSPC significantly delayed an exercise‐induced increase in virus replication. These results indicate that polyphenol complexes containing blueberry and green tea have the potential to protect athletes from virus infections following rigorous exercise. Copyright © 2014 John Wiley & Sons, Ltd.
De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2–q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5‐year‐old Egyptian girl born to consanguineous parents. The girl presented with CGHT and gingival hyperplasia for whom we performed detailed clinical, pathological, and molecular studies. The girl had coarse facies characterized by bilateral epicanthic folds, thick and abundant eyelashes, a broad nose, full cheeks, and lips that constituted the distinctive facial features for this syndrome. Biopsy of the gingiva showed epithelial marked acanthosis and hyperkeratosis with hyperplastic thick collagen bundles and dense fibrosis in the underlying tissues. Array analysis indicated a 17q24.2–q24.3 chromosomal microdeletion. We validated this microdeletion by real‐time quantitative PCR and confirmed a perfect co‐segregation of the disease phenotype within the family. In summary, this study indicates that 17q24.2–q24.3 microdeletion caused CGHT with gingival hyperplasia and distinctive facies, which should be differentiated from the autosomal recessive type that lacks the distinctive facies. © 2015 Wiley Periodicals, Inc.
Corrosion-Induced Cover Cracking: New Test Data and Predictive Models

Corrosion, especially in chloride environments, can contribute to cracking of reinforced concrete (RC) structures. In this paper, accelerated corrosion tests of reinforced concrete slabs were conducted to develop a new empirical model to predict the timing of corrosion-induced cover cracking for RC structures in chloride environments. The accelerated corrosion experimental program measured concrete cover cracking for RC slab specimens based on various concrete covers, concrete tensile strengths, and reinforcing bar diameters. A correction factor for concrete confinement is proposed to account for bars located at edges and corners. A rate of loading correction factor is applied to allow the cracking times for accelerated corrosion rates to be adjusted for the lower corrosion rates generally found in RC structures. A statistical analysis of model accuracy is used to account for variabilities between experimental data and model predictions. The new model is shown to be particularly sensitive to cover and reinforcing bar diameter.
Entropy Numbers of Embeddings of Besov Spaces in Generalized Lipschitz Spaces

We establish two-sided estimates for entropy numbers of embeddings between certain weighted Banach sequence spaces with mixed norms. These estimates are ''almost'' sharp, in the sense that upper and lower bounds differ only by logarithmic terms and improve previous results by D. E. Edmunds and D. Haroske (1999, Dissertationes Math.380, 1-43; 2000, J. Approx. Theory104, 226-271). As an application we obtain also new upper entropy estimates for embeddings of Besov spaces in generalized Lipschitz spaces.
Treatment of Rheumatoid Arthritis with Marine and Botanical Oils: Influence on Serum Lipids

The gap in mortality between patients with rheumatoid arthritis (RA) and the general population (1.5–3.0 fold risk) is increasing. This disparity is attributable mainly to cardiovascular disease (CVD), as the CVD risk is comparable to patients with diabetes mellitus. The purpose of this study is to determine whether borage seed oil rich in gamma-linolenic acid, fish oil rich in eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), or the combination of both oils are useful treatments for dyslipidemia in patients with RA. We randomized patients into a double blind, 18 month trial. Mixed effects models were used to compare trends over time in serum lipids. No significant differences were observed between the three groups: All three treatment groups exhibited similar meaningful improvement in the lipid profile at 9 and 18 months. When all groups were combined, these treatments significantly reduced total and LDL-cholesterol and triglycerides, increased HDL-cholesterol, and improved the atherogenic index. All improvements observed at 9 months persisted at 18 months (P < 0.001 verses baseline). Conclusion. Marine and botanical oils may be useful treatment for rheumatoid arthritis patients who are at increased risk for cardiovascular disease compared to the general population.
Regulated Expression of nullo Is Required for the Formation of Distinct Apical and Basal Adherens Junctions in the Drosophila Blastoderm

During cellularization, the Drosophila embryo undergoes a large-scale cytokinetic event that packages thousands of syncytial nuclei into individual cells, resulting in the de novo formation of an epithelial monolayer in the cortex of the embryo. The formation of adherens junctions is one of the many aspects of epithelial polarity that is established during cellularization: at the onset of cellularization, the Drosophila β-catenin homologue Armadillo (Arm) accumulates at the leading edge of the cleavage furrow, and later to the apicolateral region where the zonula adherens precursors are formed. In this paper, we show that the basal accumulation of Arm colocalizes with DE-cadherin and Dα-catenin, and corresponds to a region of tight membrane association, which we refer to as the basal junction. Although the two junctions are similar in components and function, they differ in their response to the novel cellularization protein Nullo. Nullo is present in the basal junction and is required for its formation at the onset of cellularization. In contrast, Nullo is degraded before apical junction formation, and prolonged expression of Nullo blocks the apical clustering of junctional components, leading to morphological defects in the developing embryo. These observations reveal differences in the formation of the apical and basal junctions, and offer insight into the role of Nullo in basal junction formation.
Linear trends in cloud top height from passive observations in the oxygen A-band

Abstract. Measurements by the hyperspectral spectrometers GOME, SCIAMACHY and GOME-2 are used to determine the rate of linear change (and trends) in cloud top height (CTH) in the period between June 1996 and May 2012. The retrievals are obtained from Top-Of-Atmosphere (TOA) backscattered solar light in the oxygen A-band using the Semi-Analytical CloUd Retrieval Algorithm SACURA. The physical framework relies on the asymptotic equations of radiative transfer, valid for optically thick clouds. Using linear least-squares techniques, a global trend of −1.78 ± 2.14 m yr−1 in deseasonalized CTH has been found, in the latitude belt within ±60°, with diverging tendencies over land (+0.27 ± 3.2 m yr−1) and ocean (−2.51 ± 2.8 m yr−1). The El Nino–Southern Oscillation (ENSO), strongly coupled to CTH, forces clouds to lower altitudes. The global ENSO-corrected trend in CTH amounts to −0.49 ± 2.22 m yr−1. At a global scale, no explicit regional pattern of statistically significant trends (at 95% confidence level, estimated with bootstrap technique) have been found, which would be representative of typical natural synoptical features. One exception is North Africa, which exhibits the strongest upward trend in CTH sustained by an increasing trend in water vapour.