Miracle-dz/UniFAR-FTUs huggingface dataset:
Socio-Communicative Deficits in Young Children with Williams Syndrome: Performance on the Autism Diagnostic Observation Schedule

In this investigation, the socio-communicative skills of 29 children with Williams syndrome aged 2 ½ to 5 ½ years were examined using the Autism Diagnostic Observation Schedule (ADOS) Module 1. Most of the participants showed socio-communicative difficulties. Approximately half of the participants were classified by the ADOS algorithm as “autism spectrum. ” Three participants were classified “autism. ” Difficulties with pointing, gestures, giving, showing, and eye contact were present for more than half of the participants, with many also showing difficulties with initiation and response to joint attention and with integration of gaze with other behaviors. Expressive and receptive language abilities of the children with Williams syndrome classified “autism spectrum” were weaker than for children classified nonspectrum, but expressive and receptive language level did not account for the socio-communicative difficulties. Implications for our understanding of the socio-communicative abilities of young children with Williams syndrome and diagnostic practices regarding dual diagnosis are discussed.
Modulation of endothelial cell migration by extracellular nucleotides

Summary Extracellular nucleotides bind to type-2 purinergic/pyrimidinergic (P2) receptors that mediate various responses, such as cell activation, proliferation and apoptosis, implicated in inflammatory processes. The role of P2 receptors and their associated signal transduction pathways in endothelial cell responses has not been fully investigated. Here, it is shown that stimulation of human umbilical vein endothelial cells (HUVEC) with extracellular ATP or UTP increased intracellular free calcium ion concentrations ([Ca2+]i), induced phosphorylation of focal adhesion kinase (FAK), p130cas and paxillin, and caused cytoskeletal rearrangements with consequent cell migration. Furthermore, UTP increased migration of HUVEC in a phosphatidylinositol 3-kinase (PI3-K)-dependent manner. BAPTA or thapsigargin inhibited the extracellular nucleotide-induced increase in [Ca2+]i, a response crucial for both FAK phosphorylation and cell migration. Furthermore, long-term exposure of HUVEC to ATP and UTP, agonists of the G protein-coupled P2Y2 and P2Y4 receptor subtypes, caused upregulation of αv integrin expression, a cell adhesion molecule known to directly interact with P2Y2 receptors. Our results suggest that extracellular nucleotides modulate signaling pathways in HUVEC influencing cell functions, such as cytoskeletal changes, cellular adhesion and motility, typically associated with integrin-activation and the action of growth factors. We propose that P2Y2 and possibly P2Y4 receptors mediate those responses that are important in vascular inflammation, atherosclerosis and angiogenesis.
Patterns of Salivary Estradiol and Progesterone across the Menstrual Cycle

Abstract: The aim of this study was to characterize the normality of menstrual cycles on the basis of progesterone and estradiol levels in self‐collected saliva samples. Twenty‐two women, ages 19–40 years, self‐collected whole unstimulated saliva specimens each morning for two consecutive menstrual cycles. On the basis of presence/timing of hormone peaks, two investigators classified 24 cycles as normal, 10 as likely normal, and 10 as clearly not normal with respect to expected profiles. Our results show that whole saliva samples collected at home on a daily basis provide a noninvasive, feasible method of determining menstrual cycle profiles.
Zero-Voltage Transition Current-Fed Full-Bridge PWM Converter

In this paper, a new zero-voltage transition current-fed full-bridge converter with a simple auxiliary circuit is introduced for high step-up applications. In this converter, for the main switches, zero-voltage switching condition is achieved at wide load range. Furthermore, all semiconductor devices of the employed simple auxiliary circuit are fully soft switched. The proposed converter is analyzed and a prototype is implemented. The experimental results presented confirm the validity of the theoretical analysis. Finally, the proposed auxiliary circuit is applied to other current-fed topologies such as current-fed push-pull and half-bridge converters to provide soft switching.
Estimating asthma control questionnaire (ACQ) scores from claims data

ABSTRACT Background: Asthma control is the main focus of treatment guidelines. Valid instruments such as the Asthma Control Questionnaire (ACQ) require prospective survey. These surveys may be challenging for large population health applications. Objective: To develop an algorithm for estimating ACQ-5 scores from commonly available claims data. Methods: Data was derived from four prospective surveys including the ACQ-5 combined with retrospective claims of Kaiser Permanente of Colorado (KPCO) patients. The statistical approach consisted of derivation and validation of a prediction algorithm including medical and pharmacy claims data using stepwise regression elimination. Validation was conducted by estimating mean squared error (MSE) and mean absolute error (MAE) in one hundred split-sample iterations. Ordinary least squares (OLS), Tobit and Median regression were used. Results: There were 2,657 individuals with valid ACQ-5 scores, claims and eligibility at baseline. The following had statistically significant associations with ACQ-5 scores: gender, use of oral corticosteroids and short-acting beta agonists, the number of asthma drug classes, and emergency and outpatient visits. Average MSE and MAE were similar for the estimation and validation samples. Conclusion: This research provides preliminary results of the feasibility of predicting ACQ-5 scores using commonly available medical and pharmacy claims data. The resulting algorithm may facilitate public health and population level analyses of asthma control. Future studies in different populations will be important to validate the algorithm.
From two-dimensional graphene oxide to three-dimensional honeycomb-like Ni3S2@graphene oxide composite: insight into structure and electrocatalytic properties

Three-dimensional (3D) graphene composites have drawn increasing attention in energy storage/conversion applications due to their unique structures and properties. Herein, we synthesized 3D honeycomb-like Ni3S2@graphene oxide composite (3D honeycomb-like Ni3S2@GO) by a one-pot hydrothermal method. We found that positive charges of Ni2+ and negative charges of NO3− in Ni(NO3)2 induced a transformation of graphene oxide with smooth surface into graphene oxide with wrinkled surface (w-GO). The w-GO in the mixing solution of Ni(NO3)2/thioacetamide/H2O evolved into 3D honeycomb-like Ni3S2@GO in solvothermal process. The GO effectively inhibited the aggregation of Ni3S2 nanoparticles. Photoelectrochemical cells based on 3D Ni3S2@GO synthesized at 60 mM l−1 Ni(NO3)2 exhibited the best energy conversion efficiency. 3D Ni3S2@GO had smaller charge transfer resistance and larger exchange current density than pure Ni3S2 for iodine reduction reaction. The cyclic stability of 3D honeycomb-like Ni3S2@GO was good in the iodine electrolyte. Results are of great interest for fundamental research and practical applications of 3D GO and its composites in solar water-splitting, artificial photoelectrochemical cells, electrocatalysts and Li-S or Na-S batteries.
Photophysical Properties of Methyl Triazone Included in MCM‐41 ¶

Methyl triazone (4,4′,4″‐[l,3,5‐triazine‐2,4,6–triyItriimino]tris‐trimethyl benzoate) has been included in mesoporous MCM‐41 (Mobil's composition of matter‐41) silica, and its fluorescence emission has been compared in solution and in the solid state. Although inclusion does not affect significantly the absorption properties, a fluorescence emission shift and a behavior similar to the solid state has been observed by increasing the loading. It is believed that this observation reflects molecular aggregation inside the MCM‐41 channels. The potential of formulations of this type for sunscreen applications is discussed.
Factorial validation of the Attitudes toward Women Scale for Adolescents (AWSA) in assessing sexual behaviour patterns in Bolivian and Ecuadorian adolescents

Background Adolescents’ health is greatly influenced by social determinants, including gender norms. Although research has shown that there is an association between gender attitudes and adolescents’ sexual behaviour, few studies have assessed this relationship carefully. The Attitudes toward Women Scale for Adolescents (AWSA) is widely used to assess gender attitudes among adolescents; however, to our knowledge it has not been applied in Latin America. Objective To apply AWSA in Latin America for the first time, to perform a factorial validation of this scale and to assess the relationship of gender attitudes and sexual behaviour in Bolivian and Ecuadorian adolescents. Design This cross-sectional study was carried out in 2011 among 14–18 year olds in 20 high schools in Cochabamba (Bolivia) and six in Cuenca (Ecuador) as a part of a larger project. Schools were purposively selected. A Spanish version of the 12-item AWSA was employed for this study. The assessed aspects of adolescent sexual behaviour were: reported sexual intercourse, reported positive experience during last sexual intercourse and reported current use of contraception. The psychometric properties of AWSA were investigated, and both explanatory and confirmatory factorial analyses were performed. Results The number of questionnaires included in the analysis was 3,518 in Bolivia and 2,401 in Ecuador. A factorial analysis of AWSA resulted in three factors: power dimension (PD), equality dimension (ED) and behavioural dimension (BD). ED showed the highest correlates with adolescent sexual behaviour. Higher scores of this dimension were associated with a more positive experience of sexual relationships, a higher current use of modern contraception and greater sexual activity among girls. Conclusions This study revealed a three-factorial structure of AWSA and demonstrated that by employing factors, the sensitivity of AWSA increases as compared to using the scale as a whole to assess sexual behaviour. This could have important implications for future research on gender and the sexual experiences of adolescents.
Transverse irregularities and thermal instabilities in the cores of wires electrically exploded in air

Summary form only given. The causes of the transverse irregularities (breaks and narrow regions) and thermal instabilities in the dense cores of exploding single wires observed in experiment are discussed. A series of shots was performed with 25-μπι and 50-μπι diameter copper, nickel, and tungsten wires electrically exploded in air by using high-power current pulses of up to 8 kA short-circuit peak and about 400 ns rise time. The velocity of propagation of the shock wave front and the velocity of expansion of the core were estimated by processing laser shadowgraphs taken at a probe radiation wavelength of 532 nm with an exposure time of 70 ps. It has been found that the core either breaks up or becomes narrow depending on the nature of the initial defect of the wire. Breaks appeared at the sites where the wire initially had defects related to the irregularity of the crystal structure (bends, residual tensile strains, etc.) responsible for an increase in deposited energy in the respective regions. The difference between the energy deposited in the wire material at the site of a break and the specific energy averaged over the wire length was estimated. It has also been revealed that contaminants present on the wire surface can reduce the energy deposited in the wire at the resistive stage, resulting in a narrowing of the core around the contaminated region.
Disease-free survival according to degree of HER2 amplification for patients treated with adjuvant chemotherapy with or without 1 year of trastuzumab: the HERA Trial.

PURPOSE To determine whether (1) immunohistochemical (IHC) HER2 status (ie, 2+ or 3+), (2) degree of fluorescence in situ hybridization (FISH) amplification according to (2a) HER2/CEP17 ratio or (2b) HER2 gene copy number, or (3) polysomy significantly influenced clinical outcome for patients with human epidermal growth factor receptor 2 (HER2) -positive breast cancer enrolled in the Herceptin Adjuvant trial of trastuzumab versus no trastuzumab administered after completion of chemotherapy. PATIENTS AND METHODS IHC and/or FISH analyses were performed locally and required central confirmation as indicating HER2 positivity for trial entry. FISH data from the central HER2 analysis on patients in the 1-year trastuzumab and no trastuzumab arms were assessed in relation to disease-free survival (DFS) after a median 2 years of follow-up. RESULTS Central FISH results were available for 2,071 (61%) of the 3,401 patients randomized to the 2 arms. Among patients with FISH-positive disease, (1) the hazard ratios for trastuzumab versus no trastuzumab were 0.56 (95% CI, 0.32 to 0.99) for locally IHC2+ cases (n = 340) and 0.80 (95% CI, 0.40 to 1.61) for centrally IHC2+ cases (n = 299). There was no significant prognostic relationship between (2a) HER2 FISH ratio, (2b) HER2 copy number, or (3) polysomy and DFS in the control arm or predictive relationship defining differential benefit from trastuzumab. CONCLUSION There was no evidence for reduced benefit of trastuzumab in HER2 IHC2+FISH+ cases. The degree of HER2 amplification does not influence prognosis or benefit from adjuvant trastuzumab in patients treated with prior adjuvant chemotherapy.
FAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer

Recent genome-wide association studies have reported a FAM13A variant on chromosome 4q22.1 is associated with lung function and COPD. We examined this variant in a case-control study of current or former smokers with chronic obstructive pulmonary disease (COPD, n = 458), lung cancer (n = 454), or normal lung function (n = 488). Sex, age, and smoking history were comparable between groups. We confirmed the FAM13A variant (rs7671167) confers a protective effect on smoking-related COPD alone (C allele odds ratio [OR] = 0.79, P = 0.013, and CC genotype OR = 0.71, P = 0.024) and those with COPD, both with and without lung cancer (C allele OR = 0.80, P = 0.008, and CC genotype OR = 0.70, P = 0.007). The FAM13A variant also confers a protective effect on lung cancer overall (C allele OR = 0.75, P = 0.002, and CC genotype OR = 0.64, P = 0.003) even after excluding those with co-existing COPD (C allele OR = 0.67, P = 0.0007, and CC genotype OR = 0.58, P = 0.006). This was independent of age, sex, height, lung function, and smoking history. This protective effect was confined to those with nonsmall cell lung cancer (C allele OR = 0.72, P = 0.0009, and CC genotype OR = 0.61, P = 0.003). This study suggests that genetic predisposition to COPD is shared with lung cancer through shared pathogenetic factors such as the 4q22.1 locus implicating the Rho-kinase pathway.
Components and regulation of nuclear transport processes

The spatial separation of DNA replication and gene transcription in the nucleus and protein translation in the cytoplasm is a uniform principle of eukaryotic cells. This compartmentalization imposes a requirement for a transport network of macromolecules to shuttle these components in and out of the nucleus. This nucleo‐cytoplasmic transport of macromolecules is critical for both cell physiology and pathology. Consequently, investigating its regulation and disease‐associated alterations can reveal novel therapeutic approaches to fight human diseases, such as cancer or viral infection. The characterization of the nuclear pore complex, the identification of transport signals and transport receptors, as well as the characterization of the Ran system (providing the energy source for efficient cargo transport) has greatly facilitated our understanding of the components, mechanisms and regulation of the nucleo‐cytoplasmic transport of proteins in our cells. Here we review this knowledge with a specific emphasis on the selection of disease‐relevant molecular targets for potential therapeutic intervention.
International comparison of studies using the perinatal grief scale: a decade of research on pregnancy loss.

The Perinatal Grief Scale (PGS) has been used in many studies of loss in pregnancy, including miscarriage, stillbirth, induced abortion, neonatal death, and relinquishment for adoption. This article describes 22 studies from 4 countries that used the PGS with a total of 2485 participants. Studies that report Cronbach's alpha for their own samples give evidence of very high internal consistency reliability. Evidence for the validity of the PGS is also reviewed, such as convergent validity seen in its association with measures of mental health, social support, and marital satisfaction. The standard errors of the means for the total scale and for the subscales reveal fairly consistent scores, in spite of very different samples and types of loss; computation of means and standard deviations for the studies as a whole permits us to establish normal score ranges. Significantly higher scores were found in studies that recruited participants from support groups and self-selected populations rather than from medical sources, and from U.S. studies compared with those in Europe.
The control of partitioning between protein and fat during human starvation: its internal determinants and biological significance

Human subjects vary in the extent to which their body's protein and fat compartments are mobilized for fuel during starvation. Although an inverse association between the initial adiposity and the contribution of protein as fuel during starvation has been known for nearly a century, interest in the quantitative importance and functional significance of the initial percentage fat as a determinant of biological variation in energy-partitioning between protein and fat (and hence in determining the partitioning characteristic of the individual) is relatively recent. The present paper addresses these issues by revisiting the classic Minnesota experiment of semi-starvation and refeeding from a standpoint of system physiology. In a quantitative analysis of the relationship between the initial body composition (ratio FAT0:fat-free mass (FFM)0) and the composition of weight loss (ratio ΔFAT:ΔFFM) in the thirty-two men in the Minnesota study, the arguments are put forward that the fraction of FFM lost when the fat stores reach total depletion is independent of the initial percentage fat, and that this fraction represents the ‘dispensible’ component of the protein compartment that is compatible with life (i.e. the protein energy-reserve, rp). The concepts are developed that (1) the initial percentage body fat (which reflects the initial ratio FAT0:FFM0) provides a ‘memory of partitioning’ which dictates the control of partitioning between protein and fat in such a way that both the protein energy-reserve (rp) and the fat energy-reserve (rf) reach complete depletion simultaneously, a strategy that would ensure maximum length of survival during long-term food scarcity, and that (2) variability in the relative sizes of these two energy reserves (i.e. in rf:rp) could, in addition to the initial percentage fat, also contribute to human variability in energy-partitioning. The basic assumptions underlying this re-analysis of the Minnesota data, and the concepts that are derived from it, have been integrated in the simple mathematical model for predicting the partitioning characteristic of the individual. This model is used to explain how variability in the fraction of the protein compartment that could function as an energy reserve (rp) can be as important as the initial percentage fat in determining inter-individual variability in protein-sparing during the early phase of starvation, in fuel partitioning during prolonged starvation, or in the maximum percentage weight loss during starvation. The elucidation of factors underlying variability in the size of the protein energy-reserve may have important implications for our understanding of the pathophysiology of starvation and age-associated susceptibility to muscle wasting, and in the clinical management of cachexia and obesity.
HIGH LINEAGE DIVERSITY AND HOST SHARING OF MALARIAL PARASITES IN A LOCAL AVIAN ASSEMBLAGE

Bird populations often have high prevalences of the haemosporidians Haemoproteus spp. and Plasmodium spp. , but the extent of host sharing and host switching among these parasite lineages and their avian hosts is not well known. While sampling within a small geographic region in which host individuals are likely to have been exposed to the same potential parasite lineages, we surveyed highly variable mitochondrial DNA from haemosporidians isolated from 14 host taxa representing 4 avian families (Hirundinidae, Parulidae, Emberizidae, and Fringillidae). Analyses of cytochrome b sequences from 83 independent infections identified 29 unique haplotypes, representing 2 well-differentiated Haemoproteus spp. lineages and 6 differentiated Plasmodium spp. lineages. A phylogenetic reconstruction of relationships among these lineages provided evidence against host specificity at the species and family levels, as all haemosporidian lineages recovered from 2 or more host individuals (2 Haemoproteus and 3 Plasmodium lineages) were found in at least 2 host families. We detected a similar high level of host sharing; the 3 most intensively sampled host species each harbored 4 highly differentiated haemosporidian lineages. These results indicate that some Haemoproteus spp. and Plasmodium spp. lineages exhibit a low degree of host specificity, a phenomenon with implications for ecological and evolutionary interactions among these parasites and their hosts.
Stereoselective metabolism of ibuprofen in humans: administration of R-, S- and racemic ibuprofen.

Using stable isotope methodology, we studied the effect of the enantiomeric composition of dosage form on ibuprofen metabolism. Eight healthy human subjects received racemic ibuprofen (800 mg) plus S-[aromatic-2H4]ibuprofen (10 mg), R-ibuprofen (600 mg) plus S-[aromatic-2H4]ibuprofen (10 mg) and S-ibuprofen (600 mg) orally on separate occasions in random order. Stereoselective gas chromatography-mass spectrometry was used to quantify deuterated and nondeuterated ibuprofen in serum up to 24 h postdose. Urinary excretion of the stereoisomeric forms of carboxyibuprofen, hydroxyibuprofen and ibuprofen glucuronide were determined up to 24 h postdose by stereoselective high performance liquid chromatography. The metabolism of ibuprofen enantiomers was not influenced by the enantiomeric composition of the dose. For racemic ibuprofen, the mean clearances (+/- S.D.) of S-ibuprofen, R-ibuprofen inversion and R-ibuprofen noninversion were 87.4 +/- 25.9, 57.3 +/- 31.0 and 56.3 +/- 29.0 ml/min, respectively. The fractional inversion of ibuprofen was significantly greater (P less than .05) using the stereochemical composition of the urinary metabolites (0.63 +/- 0.05) vs. the method using the clearance of deuterated S-ibuprofen (0.51 +/- 0.08) after the dose of racemate. Unreliable estimates of fractional inversion were obtained when the S-ibuprofen and racemic ibuprofen doses were combined. Metabolite formation clearances suggested that S-ibuprofen is preferred over R-ibuprofen in the formation of hydroxyibuprofen, carboxyibuprofen and ibuprofen glucuronide. Product stereoselectivity in the formation of the four diastereomers of carboxyibuprofen was modest in favor of SS- and RR-carboxyibuprofen for S- and R-ibuprofen, respectively.