pinecone/core-2020-05-10-deduplication huggingface dataset:
The Autism-Spectrum Quotient in Siblings of People With Autism

This study measures the distribution of autistic traits, using the autism-spectrum quotient (AQ), in siblings of individuals with autism spectrum conditions (ASC). Total AQ scores, along with AQ subscales, were collected from child, adolescent and adult controls, siblings, and volunteers with ASC using one of the three age-appropriate versions of the instrument: the AQ (adult self-report), the AQ-adolescent and AQ-child (both parent-reports). We examined the effect of Group (case, sibling and control) and AQ version (adult, adolescent and adult) on total and subscale scores. In addition, we tested for sex differences in all groups and on all versions. We found that in male and female adults, AQ scores in siblings fell between cases and controls (cases > siblings > controls). In children and adolescents, female siblings also scored higher than control females (female cases > female siblings > female controls), but there was no difference between male siblings and controls (male cases > male siblings = male controls). An investigation of subscale scores revealed that male siblings only differed from controls on the “Communication” subscale (male cases > male siblings > male controls), while female siblings differed from controls on all subscales except “Imagination” (female cases > female siblings > female controls). This study confirms the broader autism phenotype in siblings, and reveals this is modulated by sex and AQ version.This is the final version of the article. It first appeared from Wiley via https://doi.org/10.1002/aur.165
Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): a baby siblings research consortium (BSRC) study

This study characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We characterized outcomes at age 3 years using a developmental assessment of language and learning and an observational measure of ASD symptoms and, where available, parent interviews about ASD behaviors and adaptive functioning. Around one-in-ten high-risk siblings had mild-to-moderate levels of developmental delay, a rate significantly higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. High-risk siblings were also more likely to have higher levels of observer-rated and parent-reported levels of ASD symptoms and lower adaptive functioning. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. We discuss these findings as evidence for early emerging characteristics related to the “broader autism phenotype” previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not show clear signs of ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes
Sensory atypicalities in dyads of children with autism spectrum disorder (ASD) and their parents.

Sensory atypicalities are a common feature of autism spectrum disorder (ASD). To date, the relationship between sensory atypicalities in dyads of children with ASD and their parents has not been investigated. Exploring these relationships can contribute to an understanding of how phenotypic profiles may be inherited, and the extent to which familial factors might contribute towards children's sensory profiles and constitute an aspect of the broader autism phenotype (BAP). Parents of 44 children with ASD and 30 typically developing (TD) children, aged between 3 and 14 years, participated. Information about children's sensory experiences was collected through parent report using the Sensory Profile questionnaire. Information about parental sensory experiences was collected via self-report using the Adolescent/Adult Sensory Profile. Parents of children with ASD had significantly higher scores than parents of TD children in relation to low registration, over responsivity, and taste/smell sensory processing. Similar levels of agreement were obtained within ASD and TD parent-child dyads on a number of sensory atypicalities; nevertheless significant correlations were found between parents and children in ASD families but not TD dyads for sensation avoiding and auditory, visual, and vestibular sensory processing. The findings suggest that there are similarities in sensory processing profiles between parents and their children in both ASD and TD dyads. Familial sensory processing factors are likely to contribute towards the BAP. Further work is needed to explore genetic and environmental influences on the developmental pathways of the sensory atypicalities in ASD
Executive functioning in men and women with an autism spectrum disorder

Executive functioning (EF) is thought to be linked to autism spectrum disorders (ASD) specific symptoms. The majority of research has focused on children and adolescents with ASD and, therefore, little is known about EF in adults. Furthermore, little is known about gender differences. Ninety-nine men and forty women with ASD were compared with and 35 neurotypical men 25 neurotypical women. Participants were matched on age, total intelligence, and verbal ability. The following instruments were used to measure executive functioning: digit span and letter and number sequencing of the WAIS-III, Tower of Hanoi, WCST, and Verbal fluency. Multiple analysis of variance was conducted to determine group differences. Women with ASD performed worse on the working memory tasks of the WAIS-III than neurotypical women. Furthermore, women with ASD had more perseverations on the WCST than neurotypical women. The gender comparison in the ASD group showed differences in performance on mental flexibility (WCST), working memory (WAIS-III), generativity and self-monitoring (Verbal fluency). However, these differences were unequivocal and no gender specific cognitive profile could be pinpointed. Individual strengths and frailties should be highlighted in clinical practice, as impairments in EF can be under influence of the overall cognitive abilities of the individual. Furthermore, gender differences were found. This could explain differences in representation of ASD symptoms in both groups. These differences show how important thorough diagnostics are. Autism Res 2016. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.status: publishe
Mid-childhood outcomes of infant siblings at familial high-risk of Autism Spectrum Disorder

Almost one-in-five infants at high familial risk for autism spectrum disorder (ASD), due to having an older sibling with an ASD diagnosis, develop ASD themselves by age 3 years. Less is known about the longer-term outcomes of high-risk infants. To address this issue, we examined symptoms of ASD and associated developmental conditions (attention-deficit/hyperactivity disorder (ADHD); anxiety), language, IQ, and adaptive behaviour at age 7 years in high- and low-risk children studied from infancy. We compared outcomes between high-risk children who met criteria for ASD at age 7, high-risk children without ASD, and low-risk control children. Diagnostic stability between 3 and 7 years was moderate. High-risk siblings with ASD showed elevated levels of ADHD and anxiety symptoms and lower adaptive behaviour than low-risk control children. High-risk siblings without ASD had higher repetitive behaviours, lower adaptive functioning, and elevated scores on one anxiety subscale (Separation Anxiety) compared to low-risk controls. The findings indicate that the difficulties experienced by high-risk siblings at school age extend beyond ASD symptoms. Better understanding of these difficulties may improve models of the development of co-occurring problems seen in children with ASD. Autism Res 2016
Parent-delivered early intervention in infants at risk for ASD: effects on electrophysiological and habituation measures of social attention

Prospective longitudinal studies of infants with older siblings with autism spectrum disorder (ASD) have indicated that differences in the neurocognitive systems underlying social attention may emerge prior to the child meeting ASD diagnostic criteria. Thus, targeting social attention with early intervention might have the potential to alter developmental trajectories for infants at high risk for ASD. \ud
 Electrophysiological and habituation measures of social attention were collected at 6, 12 and 18 months in a group of high-risk infant siblings of children with ASD (N=33). Between 9-11 months of age, infant siblings received a parent-delivered intervention, Promoting First Relationships, (n=19) or on-going assessment without intervention (n=14). PFR has been previously shown to increase parental responsivity to infant social communicative cues and infant contingent responding. \ud
Compared to infants who only received assessment and monitoring, infants who received the intervention showed improvements in neurocognitive metrics of social attention, as reflected in a greater reduction in habituation times to face versus object stimuli between 6 and 12 months, maintained at 18 months; a greater increase in frontal EEG theta power between 6 and 12 months; and a more comparable P400 response to faces and objects at 12 months. The high-risk infants who received the intervention showed a pattern of responses that appeared closer to the normative responses of two groups of age-matched low-risk control participants. \ud
Though replication is necessary, these results suggest that early parent-mediated intervention has the potential to impact the brain systems underpinning social attention in infants at familial risk for ASD
Can You Spot a Liar? Deception, Mindreading, and the Case of Autism Spectrum Disorder

Detection of deception is of fundamental importance for everyday social life and might require “mindreading” (the ability to represent others’ mental states). People with diminished mindreading, such as those with autism spectrum disorder (ASD), might be at risk of manipulation because of lie detection difficulties. In Experiment 1, performance among 216 neurotypical adults on a realistic lie detection paradigm was significantly negatively associated with number of ASD traits, but not with mindreading ability. Bayesian analyses complemented null hypothesis significance testing and suggested the data supported the alternative hypothesis in this key respect. Cross validation of results was achieved by randomly splitting the full sample into two subsamples of 108 and rerunning analyses. The association between lie detection and ASD traits held in both subsamples, showing the reliability of findings. In Experiment 2, lie detection was significantly impaired in 27 adults with a diagnosis of ASD relative to 27 matched comparison participants. Results suggest that people with ASD (or ASD traits) may be particularly vulnerable to manipulation and may benefit from lie detection training
Familial risk of autism alters subcortical and cerebellar brain anatomy in infants and predicts the emergence of repetitive behaviors in early childhood

Autism spectrum disorder (ASD) is a common neurodevelopmental condition, and infant siblings of children with ASD are at a higher risk of developing autistic traits or an ASD diagnosis, when compared to those with typically developing siblings. Reports of differences in brain anatomy and function in high‐risk infants which predict later autistic behaviors are emerging, but although cerebellar and subcortical brain regions have been frequently implicated in ASD, no high‐risk study has examined these regions. Therefore, in this study, we compared regional MRI volumes across the whole brain in 4–6‐month‐old infants with (high‐risk, n = 24) and without (low‐risk, n = 26) a sibling with ASD. Within the high‐risk group, we also examined whether any regional differences observed were associated with autistic behaviors at 36 months. We found that high‐risk infants had significantly larger cerebellar and subcortical volumes at 4–6‐months of age, relative to low‐risk infants; and that larger volumes in high‐risk infants were linked to more repetitive behaviors at 36 months. Our preliminary observations require replication in longitudinal studies of larger samples. If correct, they suggest that the early subcortex and cerebellum volumes may be predictive biomarkers for childhood repetitive behaviors
Global prevalence of autism and other pervasive developmental disorders

We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. A secondary aim was to consider the possible impact of geographic, cultural/ethnic, and socioeconomic factors on prevalence estimates and on clinical presentation of PDD. Based on the evidence reviewed, the median of prevalence estimates of autism spectrum disorders was 62/10 000. While existing estimates are variable, the evidence reviewed does not support differences in PDD prevalence by geographic region nor of a strong impact of ethnic/cultural or socioeconomic factors. However, power to detect such effects is seriously limited in existing data sets, particularly in low-income countries. While it is clear that prevalence estimates have increased over time and these vary in different neighboring and distant regions, these findings most likely represent broadening of the diagnostic concets, diagnostic switching from other developmental disabilities to PDD, service availability, and awareness of autistic spectrum disorders in both the lay and professional public. The lack of evidence from the majority of the world's population suggests a critical need for further research and capacity building in low- and middle-income countries
Chondrogenic phenotype of different cells encapsulated in κ-carrageenan hydrogels for cartilage regeneration strategies

Engineering articular cartilage substitutes using hydrogels
with encapsulated cells is an approach that has received
increasing attention in recent years. Hydrogels based on
κ-carrageenan (κC), a thermoreversible natural-origin polymer,
have been recently proposed as new cell/growth factor
delivery vehicles for regenerative medicine. In this work, we
report the potential of such hydrogels encapsulating either
human-adipose-derived stem cells (hASCs), human nasal
chondrocytes (hNCs), or a chondrocytic cell line (ATDC5) for
cartilage regeneration strategies. The in vitro cellular behavior
of the encapsulated cells within κC hydrogel was analyzed
after different culturing periods using biochemical assays and
histological and real-time reverse-transcription PCR analysis. The three types of cells encapsulated in κC hydrogels showed
good cellular viability and proliferation up to 21 days of
culture, and the cell-laden hydrogels were positive for specific
cartilage markers. In summary, the results demonstrate that
hASCs embedded in κC hydrogels proliferate faster and exhibit
higher expression levels of typical cartilage markers as
compared with hNCs or ATDC5 cells. Based on these data, it is
possible to conclude that κC hydrogel provides a good support
for culture and differentiation of encapsulated cells and that
hASCs may provide an advantageous alternative to primary
chondrocytes, currently used in clinical treatments of cartilage
defects/diseases.Elena G. Popa would like to acknowledge Cristina Correia for help in the isolation of hNCs for this work. The authors would like to acknowledge the Portuguese Foundation for Science and Technology (PhD grant, SFRH/BD/64070/2009)
Ultraviolet-radiation-resistant isolates revealed cellulose-degrading species of Cellulosimicrobium cellulans (UVP1) and Bacillus pumilus (UVP4)

Among extremophiles, microorganisms resistant to ultraviolet radiation (UVR) have been known to produce a variety of metabolites (i.e., extremolytes). We hypothesized that natural microbial flora on elevated land (hills) would reveal a variety of UVR-resistant extremophiles and polyextremophiles with modulated proteins and enzymes that had biotechnological implications. Microorganisms Cellulosimicrobium cellulans UVP1 and Bacillus pumilus UVP4 were isolated and identified using 16S rRNA sequencing, and showed extreme UV resistance (1.03 x 106 and 1.71 x 105 similar to J/m2, respectively) from elevated land soil samples along with unique patterns of protein expression under UVR and non-UVR. A broad range of cellulolytic activity on carboxymethyl cellulose agar plates in C. cellulans UVP1 and B. pumilus UVP4 was revealed at varying pH, temperature, and inorganic salt concentration. Further, the microbial strain B. pumilus UVP4 showed the basic characteristics of a novel group: polyextremophiles with significance in bioenergy
Comparison of two functional kappa light‐chain transcripts amplified from a hybridoma

Three heavy‐chain and three kappa (κ)‐chain transcripts were amplified from hybridoma cells secreting a monoclonal antibody (m A b) against transferrin receptor. Sequence analysis via  IMGT / V ‐ QUEST  yielded the functional/aberrant prediction. Two functional κ‐chain transcripts,  V κ2 and  V κ3, and one functional V H 1 were revealed. Comprehensive bioinformatics analyses including sequence alignment, phylogenetic tree, somatic hypermutation prediction, and three‐dimensional‐molecular structure modeling were used to predict the origin of the two κ‐chain transcripts. The results of bioinformatics analysis suggest that  V κ3 is derived from the myeloma partner of the hybridoma;  V κ2 is derived from B‐cell. Functional transcripts V H 1 and  V κ2 and  V κ3 were then used to construct two chimeric antibodies chi‐ C 2 ( V κ2– V  H 1) and chi‐ C 3 ( V κ3–V H 1), respectively. Antigen‐binding experiments showed that only chi‐ C 2 remained the same affinity as its parental mAb. Possible explanations for the coexistence of two functional κ‐chain transcripts and the different affinity of the two chimeric antibodies are discussed
Esterase EstK from Pseudomonas putida mt-2 : an enantioselective acetylesterase with activity for deacetylation of xylan and poly(vinylacetate)

An extracellular esterase gene estK was identified in Pseudomonas putida mt-2, and was overexpressed to high levels in Escherichia coli. The recombinant EstK enzyme was purified and characterised kinetically against p-nitrophenyl ester and other aryl-alkyl ester substrates, and was found to be selective for hydrolysis of acetyl ester substrates, with high activity for p-nitrophenyl acetate (kcat 5.5 s-1, KM 285 µM). Recombinant EstK was found to catalyse deacetylation of acetylated beech xylan, indicating a possible in vivo function for this enzyme, and partial deacetylation of a synthetic polymer, poly(vinylacetate). EstK was found to catalyse enantioselective hydrolysis of racemic 1-phenylethyl acetate, generating 1R-phenylethanol with an enantiomeric excess of 80.4%
Water footprint of biofuels in Brazil: assessing regional differences.

The expected expansion of bioenergy in Brazil has raised concerns about the implications for its current comfortable situation of water resources availability. As water availability within the Brazilian territory is uneven, the bioenergy expansion might represent different impacts on the water resources of different regions. This work assessed, at the municipal and state levels, (i) the green and blue water footprint (WF) of the main liquid biofuels produced in Brazil (sugarcane ethanol and biodiesel); (ii) the impacts of full and salvage irrigation strategies on sugarcane WF; and (iii) the water demand for different agricultural land use scenarios. For the states of São Paulo, Minas Gerais, and Goiás, the WF of sugarcane ethanol was evaluated around 71 L MJ?1, while in the state of Paraná it reaches 100 L MJ?1. For biodiesel, values were between 40 and 50 L MJ?1. The blue WF was negligible for both biofuels, as the use of irrigation is still limited in Brazil today. Additionally, the analysis showed that full and salvage irrigation strategies would lead to lower WFs in all states considered, though in the expense of larger volumes of blue WF. Regarding land use change, the results suggested that additional evapotranspiration is occurring due to sugarcane expansion. Nevertheless, given the current situation of the Brazilian water basins, there is no evidence that sugarcane expansion over these areas will lead to critical pressure on water resources.201
From chemical platform molecules to new biosolvents: Design engineering as a substitution methodology

The substitution of conventional solvents, in line with regulation changes, requires the use of appropriate methodologies able to generate candidate molecules. Starting from the widely used trial and error approach, we developed two improved, time- and cost-saving methodologies, involving the prediction of molecule properties and reverse design. Reverse design is an innovative methodology to design biosolvents through a virtual laboratory: stages of generation of molecular structures and properties prediction are integrated into a computer-aided molecular design tool providing solutions that meet targeted specifi cations. These two substitution methodologies were applied in a case study aiming at replacing acetone and methyl ethyl ketone for the solubilization of epoxy resin prepolymers. The generation of performing biosolvents was carried ot from furfural as a bio-based platform molecule, thanks to the prediction of different relevant properties (physico-chemical, safety, and environmental characteristics). The reverse design succeeded in ranking these solvent candidates according to their capacity to match the required specifi cations
Review of methodological choices in LCA of biorefinery systems - key issues and recommendations

The current trend in biomass conversion technologies is toward more efficient utilization of biomass feedstock in multiproduct biorefineries. Many life-cycle assessment (LCA) studies of biorefinery systems have been performed but differ in how they use the LCA methodology. Based on a review of existing LCA standards and guidelines, this paper provides recommendations on how to handle key methodological issues when performing LCA studies of biorefinery systems. Six key issues were identified: (i) goal definition, (ii) functional unit, (iii) allocation of biorefinery outputs, (iv) allocation of biomass feedstock, (v) land use, and (vi) biogenic carbon and timing of emissions. Many of the standards and guidelines reviewed here provide only general methodological recommendations. Some make more specific methodological recommendations, but these often differ between standards. In this paper we present some clarifications (e.g. examples of research questions and suitable functional units) and methodological recommendations (e.g. on allocation). (C) 2015 Society of Chemical Industry and John Wiley &amp; Sons, Lt
Hydrothermal liquefaction of bagasse using ethanol and black liquor as solvents

The objective of this study was to examine the hydrothermal liquefaction of sugarcane bagasse using ethanol and black liquor (BL) in a pilot scale. Combinations of co-solvents (ethanol/ water, ethanol/BL) were studied at various  concentrations and reaction conditions. The maximum oil yield of 61% was achieved with a reaction temperature of 300 °C for 30 min and using pure BL as a solvent, while the highest higher heating value (HHV) was obtained from a 50:50 ethanol-BL mixture. The oils contained alcohols, esters, phenolic compounds, aromatics, and heterocyclics. The O/C and H/C ratios of the oil were comparable with traditional biodiesel and commercial diesel. Although this\ud
study showed there are some improvements to be made to improve the chemical composition, the approach has potential for large-scale production of a substitute for fossil-fuel-based diesel