bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations
Authors: Salas-Labadía C. , Gómez-Carmona S. , Cruz-Alcívar R. , Martínez-Anaya D. , Del Castillo-Ruiz V. , Durán-McKinster C. , Ulloa-Avilés V. , Yokoyama-Rebollar E. , Ruiz-Herrera A. , Navarrete-Meneses P. , Lieberman-Hernández E. , González-Del Angel A. , Cervantes-Barragán D. , Villarroel-Cortés C. , Reyes-León A. , Suárez-Pérez D. , Pedraza-Meléndez A. , González-Orsuna A. , Pérez-Vera P. 
Published: November 2019

Abstract
Background
Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, emphasizing on searching for possible low chromosomal mosaicism and on establishing an accurate genotype-phenotype correlation.

Results
A total of 73 patients were included (3 months to 18 years of age), 52% male and 48% female. Observed in 69 (95%) patients, the most frequent pattern of pigmentation was fine and whorled BL, which was associated with disseminated skin extent in 41 (59%) patients. Central nervous system (84%) alterations were the most frequent observed in the group of patients, followed by the musculoskeletal (53%) and ophthalmologic (27%) alterations. Considering the pattern of pigmentation, no significant differences in association with skin extent or extracutaneous manifestations were detected. Following a strict cytogenetic analysis strategy, screening metaphases from three different tissues (peripheral blood, hyperpigmented and hypopigmented skin) we found that 23/73 patients had chromosomal abnormalities classified as follows: 1) Mosaic with 2 or more different cell lines with structural alterations n = 19; 2) Polyploidy (mosaic) n = 1 and 3) Alterations in all cells in three different tissues n = 3. SNP array, array CGH and FISH were useful for the complete characterization of the chromosomal aberrations, for the detection of microdeletions in patients with normal karyotype but with strong clinical suspicious of chromosomal alteration, and for a better establishment of genotype-phenotype correlation. In 2 patients we found genes associated with some of the extracutaneous manifestations (SHH, MNX1, PPP2R2C).

Conclusions
This group of 73 patients finely described is the largest series of patients with pigmentary mosaicism reported worldwide. As we showed in this study, the followed analysis strategy allowed the detection of cytogenetic and molecular abnormalities, and made possible the establishment of genotype-phenotype associations in some patients. An important limitation of our study was the analysis of fibroblasts cultures instead of melanocytes and keratinocytes. In some cases the direct molecular DNA analysis of skin biopsy could be another choice.
Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature
Authors: Debladis Jimmy , Valette Marion , Strenilkov Kuzma , Mantoulan Carine , Thuilleaux Denise , Laurier Virginie , Molinas Catherine , Barone Pascal , Tauber Maïthé 
Published: November 2019

Abstract
Background
Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.

Results
Compared with controls, patients with PWS performed more poorly on face/emotion recognition. We observed atypical facial exploration by patients with maternal disomy. These patients looked preferentially at the mouth region, whereas patients with a deletion and controls were more attracted to the eye region. During social scenes, the exploration became more atypical as the social content increased.

Conclusions
Our comprehensive study brings new insights into the face processing of patients with PWS. Atypical facial exploration was only displayed by patients with the maternal disomy subtype, corresponding to their higher rate of autism spectrum disorder. This finding strongly argues in favor of early identification of this genetic subgroup in order to optimize care by implementing tailored interventions for each patient as soon as possible.
Epigenetic age acceleration and metabolic syndrome in the coronary artery risk development in young adults study
Authors: Nannini Drew R. , Joyce Brian T. , Zheng Yinan , Gao Tao , Liu Lei , Yoon Grace , Huan Tianxiao , Ma Jiantao , Jacobs David R. , Wilkins John T. , Ren Jim , Zhang Kai , Khan Sadiya S. , Allen Norrina Bai , Horvath Steve , Lloyd-Jones Donald M. , Greenland Philip , Hou Lifang 
Published: November 2019

Abstract
Background
The metabolic syndrome (MetS) is a collection of metabolic disturbances that can lead to various cardiovascular diseases. Previous studies have shown a more adverse metabolic risk profile is associated with more advanced biological aging. The associations between epigenetic biomarkers of age with MetS, however, are not well understood. We therefore investigated the associations between epigenetic age acceleration and MetS severity score and incident MetS.

Results
A subset of study participants with available whole blood at examination years 15 and 20 from the Coronary Artery Risk Development in Young Adults Study underwent epigenomic profiling using the Illumina MethylationEPIC Beadchip (~ 850,000 sites). Intrinsic and extrinsic epigenetic age acceleration (IEAA and EEAA) were calculated from DNA methylation levels. The MetS severity score was positively associated with IEAA at years 15 (P = 0.016) and 20 (P = 0.016) and EEAA at year 20 (P = 0.040) in cross-sectional analysis. IEAA at year 20 was significantly associated with incident MetS at year 30 (OR = 1.05 [95% CI 1.01, 1.10], P = 0.028).

Conclusions
To our knowledge, this is the first report of the longitudinal association between epigenetic age acceleration and MetS. These findings suggest that a higher MetS severity score is associated with accelerated epigenetic aging and such aging may play a role in the development of metabolic disorders, potentially serving as a useful biomarker of and early detection tool for future MetS.
Performance and usability of machine learning for screening in systematic reviews: a comparative evaluation of three tools
Authors: Gates Allison , Guitard Samantha , Pillay Jennifer , Elliott Sarah A. , Dyson Michele P. , Newton Amanda S. , Hartling Lisa 
Published: November 2019

AbstractBackgroundWe explored the performance of three machine learning tools designed to facilitate title and abstract screening in systematic reviews (SRs) when used to (a) eliminate irrelevant records (automated simulation) and (b) complement the work of a single reviewer (semi-automated simulation). We evaluated user experiences for each tool.MethodsWe subjected three SRs to two retrospective screening simulations. In each tool (Abstrackr, DistillerSR, RobotAnalyst), we screened a 200-record training set and downloaded the predicted relevance of the remaining records. We calculated the proportion missed and workload and time savings compared to dual independent screening. To test user experiences, eight research staff tried each tool and completed a survey.ResultsUsing Abstrackr, DistillerSR, and RobotAnalyst, respectively, the median (range) proportion missed was 5 (0 to 28) percent, 97 (96 to 100) percent, and 70 (23 to 100) percent for the automated simulation and 1 (0 to 2) percent, 2 (0 to 7) percent, and 2 (0 to 4) percent for the semi-automated simulation. The median (range) workload savings was 90 (82 to 93) percent, 99 (98 to 99) percent, and 85 (85 to 88) percent for the automated simulation and 40 (32 to 43) percent, 49 (48 to 49) percent, and 35 (34 to 38) percent for the semi-automated simulation. The median (range) time savings was 154 (91 to 183), 185 (95 to 201), and 157 (86 to 172) hours for the automated simulation and 61 (42 to 82), 92 (46 to 100), and 64 (37 to 71) hours for the semi-automated simulation. Abstrackr identified 33–90% of records missed by a single reviewer. RobotAnalyst performed less well and DistillerSR provided no relative advantage. User experiences depended on user friendliness, qualities of the user interface, features and functions, trustworthiness, ease and speed of obtaining predictions, and practicality of the export file(s).ConclusionsThe workload savings afforded in the automated simulation came with increased risk of missing relevant records. Supplementing a single reviewer’s decisions with relevance predictions (semi-automated simulation) sometimes reduced the proportion missed, but performance varied by tool and SR. Designing tools based on reviewers’ self-identified preferences may improve their compatibility with present workflows.Systematic review registrationNot applicable.
Simultaneous biosorption of nickel and cadmium by the brown algae Cystoseria indica characterized by isotherm and kinetic models
Authors: Khajavian Mohammad , Wood David A. , Hallajsani Ahmad , Majidian Nasrollah 
Published: November 2019

AbstractBiosorption is an effective way of extracting heavy metal ions from aqueous solutions of various compositions. The brown algae, Cystoseria indica, when treated with sodium chloride, demonstrates significant capacity to extract cadmium and nickel, simultaneously, from aqueous solutions. The batch system was running over wide ranges of initial metal ion concentrations (5–150 mg/L), pH (2–6), adsorbent mass (1–4 g/L), and contact times (20–300 min), at a temperature of 25 °C. The results obtained when applying the system in these conditions exhibit higher removal capacities for cadmium than nickel. The optimal conditions of the biosorption process were found as the adsorbent mass of 1 g/L, initial concentration of adsorbates of 100 mg/L and pH of 6. The equilibrium data obtained are better described by the extended-Freundlich isotherm for nickel and cadmium. The maximum biosorption of nickel and cadmium in binary-metal-component system were 18.17 and 55.34 mg/g, respectively. The kinetic data derived from these experiments were evaluated with pseudo-first-order, pseudo-second-order and intra-particle-diffusion kinetic models. Kinetic examination of the equilibrium data derived from these models suggest that the adsorption of nickel and cadmium both follow the intra-particle-diffusion kinetic model.
Oscillation-specific nodal alterations in early to middle stages Parkinson’s disease
Authors: Guan Xiaojun , Guo Tao , Zeng Qiaoling , Wang Jiaqiu , Zhou Cheng , Liu Chunlei , Wei Hongjiang , Zhang Yuyao , Xuan Min , Gu Quanquan , Xu Xiaojun , Huang Peiyu , Pu Jiali , Zhang Baorong , Zhang Min-Ming 
Published: November 2019

Abstract
Background
Different oscillations of brain networks could carry different dimensions of brain integration. We aimed to investigate oscillation-specific nodal alterations in patients with Parkinson’s disease (PD) across early stage to middle stage by using graph theory-based analysis.

Methods
Eighty-eight PD patients including 39 PD patients in the early stage (EPD) and 49 patients in the middle stage (MPD) and 36 controls were recruited in the present study. Graph theory-based network analyses from three oscillation frequencies (slow-5: 0.01–0.027 Hz; slow-4: 0.027–0.073 Hz; slow-3: 0.073–0.198 Hz) were analyzed. Nodal metrics (e.g. nodal degree centrality, betweenness centrality and nodal efficiency) were calculated.

Results
Our results showed that (1) a divergent effect of oscillation frequencies on nodal metrics, especially on nodal degree centrality and nodal efficiency, that the anteroventral neocortex and subcortex had high nodal metrics within low oscillation frequencies while the posterolateral neocortex had high values within the relative high oscillation frequency was observed, which visually showed that network was perturbed in PD; (2) PD patients in early stage relatively preserved nodal properties while MPD patients showed widespread abnormalities, which was consistently detected within all three oscillation frequencies; (3) the involvement of basal ganglia could be specifically observed within slow-5 oscillation frequency in MPD patients; (4) logistic regression and receiver operating characteristic curve analyses demonstrated that some of those oscillation-specific nodal alterations had the ability to well discriminate PD patients from controls or MPD from EPD patients at the individual level; (5) occipital disruption within high frequency (slow-3) made a significant influence on motor impairment which was dominated by akinesia and rigidity.

Conclusions
Coupling various oscillations could provide potentially useful information for large-scale network and progressive oscillation-specific nodal alterations were observed in PD patients across early to middle stages.
Alterations of perineuronal nets in the dorsolateral prefrontal cortex of neuropsychiatric patients
Authors: Alcaide Julia , Guirado Ramón , Crespo Carlos , Blasco-Ibáñez José Miguel , Varea Emilio , Sanjuan Julio , Nacher Juan 
Published: November 2019

Abstract
Background
Alterations in the structure and physiology of interneurons in the prefrontal cortex (PFC) are important factors in the etiopathology of different psychiatric disorders. Among the interneuronal subpopulations, parvalbumin (PV) expressing cells appear to be specially affected. Interestingly, during development and adulthood the connectivity of these interneurons is regulated by the presence of perineuronal nets (PNNs), specialized regions of the extracellular matrix, which are frequently surrounding PV expressing neurons. Previous reports have found anomalies in the density of PNNs in the PFC of schizophrenic patients. However, although some studies have described alterations in PNNs in some extracortical regions of bipolar disorder patients, there are no studies focusing on the prefrontocortical PNNs of bipolar or major depression patients. For this reason, we have analyzed the density of PNNs in post-mortem sections of the dorsolateral PFC (DLPFC) from the Stanley Neuropathology Consortium, which includes controls, schizophrenia, bipolar and major depression patients.

Results
We have not observed differences in the distribution of PV+ cells or PNNs, or in the percentage of PV+ interneurons surrounded by PNNs. The density of PV+ interneurons was similar in all the experimental groups, but there was a significantly lower density of PNNs in the DLPFC of bipolar disorder patients and a tendency towards a decrease in schizophrenic patients. No differences were found when evaluating the density of PV+ cells surrounded by PNNs. Interestingly, when assessing the influence of demographic data, we found an inverse correlation between the density of PNNs and the presence of psychosis.

Conclusions
The present results point to prefrontocortical PNNs and their role in the regulation of neuronal plasticity as putative players in the etiopathology of bipolar disorder and schizophrenia. Our findings also suggest a link between these specialized regions of the extracellular matrix and the presence of psychosis.
The CogBIAS longitudinal study of adolescence: cohort profile and stability and change in measures across three waves
Authors: Booth Charlotte , Songco Annabel , Parsons Sam , Heathcote Lauren Charlotte , Fox Elaine 
Published: November 2019

Abstract
Background
Adolescence is a time of considerable social, cognitive, and physiological development. It reflects a period of heightened risk for the onset of mental health problems, as well as heightened opportunity for flourishing and resilience. The CogBIAS Longitudinal Study (CogBIAS-L-S) aims to investigate psychological development during adolescence.

Methods
We present the cohort profile of the sample (N = 504) across three waves of data collection, when participants were approximately 13, 14.5, and 16 years of age. Further, we present descriptive statistics for all of the psychological variables assessed including (a) the self-report mood measures, (b) the other self-report measures, and (c) the behavioural measures. Differential and normative stability were investigated for each variable, in order to assess (i) measurement reliability (internal consistency), (ii) the stability of individual differences (intra-class correlations), and (iii) whether any adolescent-typical developmental changes occurred (multilevel growth curve models).

Results
Measurement reliability was good for the self-report measures (> .70), but lower for the behavioural measures (between .00 and .78). Differential stability was substantial, as individual differences were largely maintained across waves. Although, stability was lower for the behavioural measures. Some adolescent-typical normative changes were observed, reflected by (i) worsening mood, (ii) increasing impulsivity, and (iii) improvements in executive functions.

Conclusions
The stability of individual differences was substantial across most variables, supporting classical test theory. Some normative changes were observed that reflected adolescent-typical development. Although, normative changes were relatively small compared to the stability of individual differences. The development of stable psychological characteristics during this period highlights a potential intervention window in early adolescence.
A negative bias in decoding positive social cues characterizes emotion processing in patients with symptom-remitted Borderline Personality Disorder
Authors: Kleindienst Nikolaus , Hauschild Sophie , Liebke Lisa , Thome Janine , Bertsch Katja , Hensel Saskia , Lis Stefanie 
Published: November 2019

Abstract
Background
Impairments in the domain of interpersonal functioning such as the feeling of loneliness and fear of abandonment have been associated with a negative bias during processing of social cues in Borderline Personality Disorder (BPD). Since these symptoms show low rates of remission, high rates of recurrence and are relatively resistant to treatment, in the present study we investigated whether a negative bias during social cognitive processing exists in BPD even after symptomatic remission. We focused on facial emotion recognition since it is one of the basal social-cognitive processes required for successful social interactions and building relationships.

Methods
Ninety-eight female participants (46 symptom-remitted BPD [r-BPD]), 52 healthy controls [HC]) rated the intensity of anger and happiness in ambiguous (anger/happiness blends) and unambiguous (emotion/neutral blends) emotional facial expressions. Additionally, participants assessed the confidence they experienced in their own judgments.

Results
R-BPD participants assessed ambiguous expressions as less happy and as more angry when the faces displayed predominantly happiness. Confidence in these judgments did not differ between groups, but confidence in judging happiness in predominantly happy faces was lower in BPD patients with a higher level of BPD psychopathology.

Conclusions
Evaluating social cues that signal the willingness to affiliate is characterized by a negative bias that seems to be a trait-like feature of social cognition in BPD. In contrast, confidence in judging positive social signals seems to be a state-like feature of emotion recognition in BPD that improves with attenuation in the level of acute BPD symptoms.
Usage and comparison of artificial intelligence algorithms for determination of growth and development by cervical vertebrae stages in orthodontics
Authors: Kök Hatice , Acilar Ayse Merve , İzgi Mehmet Said 
Published: November 2019

Abstract
Background
Growth and development can be determined by cervical vertebrae stages that were defined on the cephalometric radiograph. Artificial intelligence has the ability to perform a variety of activities, such as prediction-classification in many areas of life, by using different algorithms, In this study, we aimed to determine cervical vertebrae stages (CVS) for growth and development periods by the frequently used seven artificial intelligence classifiers, and to compare the performance of these algorithms with each other.

Methods
Cephalometric radiographs, that were obtained from 300 individuals aged between 8 and 17 years were included in our study. Nineteen reference points were defined on second, third, and 4th cervical vertebrae, and 20 different linear measurements were taken. Seven algorithms of artificial intelligence that are frequently used in the field of classification were selected and compared. These algorithms are k-nearest neighbors (k-NN), Naive Bayes (NB), decision tree (Tree), artificial neural networks (ANN), support vector machine (SVM), random forest (RF), and logistic regression (Log.Regr.) algorithms.

Results
According to confusion matrices decision tree, CSV1 (97.1%)–CSV2 (90.5%), SVM: CVS3 (73.2%)–CVS4 (58.5%), and kNN: CVS 5 (60.9%)–CVS 6 (78.7%) were the algorithms with the highest accuracy in determining cervical vertebrae stages. The ANN algorithm was observed to have the second-highest accuracy values (93%, 89.7%, 68.8%, 55.6%, and 78%, respectively) in determining all stages except CVS5 (47.4% third highest accuracy value). According to the average rank of the algorithms in predicting the CSV classes, ANN was the most stable algorithm with its 2.17 average rank.

Conclusion
In our experimental study, kNN and Log.Regr. algorithms had the lowest accuracy values. SVM-RF-Tree and NB algorithms had varying accuracy values. ANN could be the preferred method for determining CVS.