bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options
Authors: Gammon Betsy L. , Otto Laura , Wick Myra , Borowski Kristy , Allyse Megan 
Published: December 2017

AbstractRecently, practices have begun integrating cell‐free DNA‐based noninvasive prenatal screening as a screening option for a variety of genetic conditions. According to the National Society of Genetic Counselors, the integration of cfDNA screening into clinical prenatal practice may “significantly shift the paradigm of prenatal testing and screening for all women.” The purpose of this study was to determine whether group information sessions can feasibly serve as an alternative to extended one‐on‐one genetic counseling for the increasing number of women making decisions about prenatal testing and screening. This study assessed the effect of group genetic information sessions coupled with abbreviated counseling on pregnant women's knowledge about and attitudes toward prenatal testing and screening.
Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit
Authors: Lobo Miriam , López‐Tarruella Sara , Luque Soledad , Lizarraga Santiago , Flores‐Sánchez Carmen , Bueno Oscar , Solera Jesús , Jerez Yolanda , del Val Ricardo González , Palomero María Isabel , Cebollero María , Echavarría Isabel , Torres Gabriela , Martín Miguel , Márquez‐Rodas Iván 
Published: December 2017

AbstractThe identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high‐risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p < 0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p = 0.65). Family history documentation in patient's medical records (92.4 vs. 97.8%, p < 0.001) and referral rate (26.3 vs. 52%, p < 0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p = 0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.
Comparison of Telephone and Televideo Modes for Delivery of Genetic Counseling: a Randomized Trial
Authors: Voils Corrine I. , Venne Vickie L. , Weidenbacher Hollis , Sperber Nina , Datta Santanu 
Published: December 2017

AbstractTelephone and televideo have yielded equivalent patient satisfaction and psychosocial outcomes when compared to in‐person genetic counseling, yet little is known about how they compare to one another. In this randomized controlled trial, veterans received genetic counseling via telephone or traveled to a clinic to participate via encrypted televideo. Knowledge and visit satisfaction were assessed 2 weeks later. Travel time, mileage, and out‐of‐pocket costs were calculated for videoconferencing. Qualitative interviews were conducted with patients and counselors to assess acceptability. Of the 20 male patients randomized to telephone, 90% received counseling and provided outcomes; of the 18 randomized to televideo, 67% received counseling and 50% provided outcomes. Telephone patients answered a mean of 4.4 of eight questions correctly at baseline and 4.7 at follow‐up; televideo means were 5.6 and 6.5, respectively. Satisfaction was 25.2 out of 30 for telephone and 26.9 for televideo. Televideo patients incurred a median of 2.8 h of travel time, 40 roundtrip miles, and $67.29 in costs. Patients and counselors found both modes acceptable for providing education and answering questions. Although patients liked the flexibility of telephone, counselors felt patients missed more appointments and were distracted when using telephone. A noted advantage of videoconferencing was reading body language. Further evaluation of alternative delivery modes is needed.
Functional importance of sacred forest patches in the altered landscape of Palakkad region, Kerala, India
Authors: Rajasri Ray , Sreevidya E.A. , Ramachandra T.V. 
Published: December 2017

Abstract:The role of sacred forest patches in maintaining biodiversity and offering ecosystem services is well established, though the functional aspects are understated. This study aims to understand the functional diversity of tree reproductive traits of sacred forest patches in an altered landscape. Twenty-five sacred groves in Palakkad region, Kerala, India, were chosen to assess the distribution of five reproductive traits – pollination mechanism, fruit size, seed number, seed size and dispersal mechanism – among the tree populations. The data matrix was analysed for overall trait-state distribution, functional diversity assessment and its relation to environmental parameters and disturbance in the area. A total of 87 woody species was documented with a fairly homogenized distribution of fruit and seed characters, with ≥50% of the recorded trait states in each grove in comparison to control plot. Pollination and dispersal mechanisms are dominated by a single guild. e.g. insects and birds, often generalist in nature. Functional richness had a strong correlation with Shannon's index and disturbance, but evenness and divergence were weakly related with others. Comparative assessment with null model showed no significant deviations from expected results indicating apparent lack of habitat filtering or resource competition among sacred groves. The trait homogenization and overall simplification of the grove biota is perhaps an outcome of rapid land-use change and its consequences on specialist members. This study shows sacred groves are important for maintaining a plethora of functional traits in the altered landscape. However, the prevalence of generalist mediators indicates maintenance of basic ecological functions in the landscape without support for specialist ones.
Illegal killing and taking of birds in Europe outside the Mediterranean: assessing the scope and scale of a complex issue
Authors: BROCHET ANNE-LAURE , VAN DEN BOSSCHE WILLEM , JONES VICTORIA R. , ARNARDOTTIR HOLMFRIDUR , DAMOC DORIN , DEMKO MIROSLAV , DRIESSENS GERALD , FLENSTED KNUD , GERBER MICHAEL , GHASABYAN MAMIKON , GRADINAROV DIMITAR , HANSEN JANUS , HORVÁTH MÁRTON , KARLONAS MARIUS , KROGULEC JAROSŁAW , KUZMENKO TATIANA , LACHMAN LARS , LEHTINIEMI TEEMU , LORGÉ PATRIC , LÖTBERG ULRIK , LUSBY JOHN , OTTENS GERT , PAQUET JEAN-YVES , RUKHAIA ALEXANDER , SCHMIDT MATTHIAS , SHIMMINGS PAUL , STIPNIEKS ANDRIS , SULTANOV ELCHIN , VERMOUZEK ZDENĚK , VINTCHEVSKI ALEXANDRE , VOLKE VELJO , WILLI GEORG , BUTCHART STUART H.M. 
Published: December 2017

SummaryThe illegal killing and taking of wild birds remains a major threat on a global scale. However, there are few quantitative data on the species affected and countries involved. We quantified the scale and scope of this issue in Northern and Central Europe and the Caucasus, using a diverse range of data sources and incorporating expert knowledge. The issue was reported to be widespread across the region and affects almost all countries/territories assessed. We estimated that 0.4–2.1 million birds per year may be killed/taken illegally in the region. The highest estimate of illegal killing in the region was for Azerbaijan (0.2-1.0 million birds per year). Out of the 20 worst locations identified, 13 were located in the Caucasus. Birds were reported to be illegally killed/taken primarily for sport and food in the Caucasus and for sport and predator/pest control in both Northern and Central Europe. All of the 28 countries assessed are parties to the Bern Convention and 19 are also European Union Member States. There are specific initiatives under both these policy instruments to tackle this threat, yet our data showed that illegal killing and taking is still occurring and is not restricted to Mediterranean European countries. Markedly increased effort is required to ensure that existing legislation is adequately implemented and complied with/enforced on the ground. Our study also highlighted the paucity of data on illegal killing and taking of birds in the region. It is a priority, identified by relevant initiatives under the Bern Convention and the European Union, to implement systematic monitoring of illegal killing and taking and to collate robust data, allowing stakeholders to set priorities, track trends and monitor the effectiveness of responses.
Twelve-month outcomes of a randomized trial of a moderate-carbohydrate versus very low-carbohydrate diet in overweight adults with type 2 diabetes mellitus or prediabetes
Authors: Saslow Laura R. , Daubenmier Jennifer J. , Moskowitz Judith T. , Kim Sarah , Murphy Elizabeth J. , Phinney Stephen D. , Ploutz-Snyder Robert , Goldman Veronica , Cox Rachel M. , Mason Ashley E. , Moran Patricia , Hecht Frederick M. 
Published: December 2017

AbstractDietary treatment is important in management of type 2 diabetes or prediabetes, but uncertainty exists about the optimal diet. We randomized adults (n = 34) with glycated hemoglobin (HbA1c) > 6.0% and elevated body weight (BMI > 25) to a very low-carbohydrate ketogenic (LCK) diet (n = 16) or a moderate-carbohydrate, calorie-restricted, low-fat (MCCR) diet (n = 18). All participants were encouraged to be physically active, get sufficient sleep, and practice behavioral adherence strategies based on positive affect and mindful eating. At 12 months, participants in the LCK group had greater reductions in HbA1c levels (estimated marginal mean (EMM) at baseline = 6.6%, at 12 mos = 6.1%) than participants in MCCR group (EMM at baseline = 6.9%, at 12 mos = 6.7%), p = .007. Participants in the LCK group lost more weight (EMM at baseline = 99.9 kg, at 12 mos = 92.0 kg) than participants in the MCCR group (EMM at baseline = 97.5 kg, at 12 mos = 95.8 kg), p < .001. The LCK participants experienced larger reductions in diabetes-related medication use; of participants who took sulfonylureas or dipeptidyl peptidase-4 inhibitors at baseline, 6/10 in the LCK group discontinued these medications compared with 0/6 in the MCCR group (p = .005). In a 12-month trial, adults with elevated HbA1c and body weight assigned to an LCK diet had greater reductions in HbA1c, lost more weight, and reduced more medications than those instructed to follow an MCCR diet.
The direct role of 5-lipoxygenase on tau pathology, synaptic integrity and cognition in a mouse model of tauopathy
Authors: Vagnozzi Alana N. , Giannopoulos Phillip F. , Praticò Domenico 
Published: December 2017

AbstractNeurodegenerative tauopathies are characterized by pathological accumulation of highly phosphorylated isoforms of tau protein, which leads to progressive neuronal loss. Neuroinflammation often accompanies tau-driven diseases; however, the direct role of neuroinflammation in tauopathies remains unknown. The 5-lipoxygenase (5LO) is a pro-inflammatory enzyme, which produces several bioactive metabolites and is widely expressed in the central nervous system. Previously, our group showed that 5LO influences the Alzheimer’s disease (AD) phenotype of APP transgenic mice as well as a mouse model with plaques and tangles. However, whether this protein directly modulates tau phosphorylation and subsequent neuropathology remains to be fully investigated. In the current study, we provide evidence for an age-dependent and region-specific upregulation of the 5LO pathway (protein, message and activity) in a transgenic mouse model of tauopathy, the P301S line. In addition, we demonstrate that genetic deletion of 5LO in this mouse model results in significant memory improvement, reduces tau phosphorylation at specific epitopes as well as neuroinflammation and rescues synaptic pathology. In vitro studies confirmed that 5LO directly modulates tau phosphorylation at the same epitopes as for the brain tissues. Taken together, our data reveal an active involvement of the 5LO pathway in the development of the tauopathy phenotype and provide strong support to the hypothesis that this enzymatic protein should be considered a novel and viable therapeutic target for the treatment of human tauopathy.
Analysis of the joint effect of SNPs to identify independent loci and allelic heterogeneity in schizophrenia GWAS data
Authors: Polushina Tatiana , Giddaluru Sudheer , Bettella Francesco , Espeseth Thomas , Lundervold Astri J. , Djurovic Srdjan , Cichon Sven , Hoffmann Per , Nöthen Markus M. , Steen Vidar M. , Andreassen Ole A. , Le Hellard Stéphanie 
Published: December 2017

AbstractWe have tested published methods for capturing allelic heterogeneity and identifying loci of joint effects to uncover more of the “hidden heritability” of schizophrenia (SCZ). We used two tools, cojo-GCTA and multi-SNP, to analyze meta-statistics from the latest genome-wide association study (GWAS) on SCZ by the Psychiatric Genomics Consortium (PGC). Stepwise regression on markers with p values <10−7 in cojo-GCTA identified 96 independent signals. Eighty-five passed the genome-wide significance threshold. Cross-validation of cojo-GCTA by CLUMP was 76%, i.e., 26 of the loci identified by the PGC using CLUMP were found to be dependent on another locus by cojo-GCTA. The overlap between cojo-GCTA and multi-SNP was better (up to 92%). Three markers reached genome-wide significance (5 × 10−8) in a joint effect model. In addition, two loci showed possible allelic heterogeneity within 1-Mb genomic regions, while CLUMP analysis had identified 16 such regions. Cojo-GCTA identified fewer independent loci than CLUMP and seems to be more conservative, probably because it accounts for long-range LD and interaction effects between markers. These findings also explain why fewer loci with possible allelic heterogeneity remained significant after cojo-GCTA analysis. With multi-SNP, 86 markers were selected at the threshold 10−7. Multi-SNP identifies fewer independent signals, due to splitting of the data and use of smaller samples. We recommend that cojo-GCTA and multi-SNP are used for post-GWAS analysis of all traits to call independent loci. We conclude that only a few loci in SCZ show joint effects or allelic heterogeneity, but this could be due to lack of power for that data set.
Gene expression associated with PTSD in World Trade Center responders: An RNA sequencing study
Authors: Kuan Pei-Fen , Waszczuk Monika A. , Kotov Roman , Clouston Sean , Yang Xiaohua , Singh Prashant K. , Glenn Sean T. , Cortes Gomez Eduardo , Wang Jianmin , Bromet Evelyn , Luft Benjamin J. 
Published: December 2017

AbstractThe gene expression approach has provided promising insights into the pathophysiology of posttraumatic stress disorder (PTSD). However, few studies used hypothesis-free transcriptome-wide approach to comprehensively understand gene expression underpinning PTSD. A transcriptome-wide expression study using RNA sequencing of whole blood was conducted in 324 World Trade Center responders (201 with never, 81 current, 42 past PTSD). Samples from current and never PTSD reponders were randomly split to form discovery (N = 195) and replication (N = 87) cohorts. Differentially expressed genes were used in pathway analysis and to create a polygenic expression score. There were 448 differentially expressed genes in the discovery cohort, of which 99 remained significant in the replication cohort, including FKBP5, which was found to be up-regulated in current PTSD regardless of the genotypes. Several enriched biological pathways were found, including glucocorticoid receptor signaling and immunity-related pathways, but these pathways did not survive FDR correction. The polygenic expression score computed by aggregating 30 differentially expressed genes using the elastic net algorithm achieved sensitivity/specificity of 0.917/0.508, respectively for identifying current PTSD in the replication cohort. Polygenic scores were similar in current and past PTSD, with both groups scoring higher than trauma-exposed controls without any history of PTSD. Together with the pathway analysis results, these findings point to HPA-axis and immune dysregulation as key biological processes underpinning PTSD. A novel polygenic expression aggregate that differentiates PTSD patients from trauma-exposed controls might be a useful screening tool for research and clinical practice, if replicated in other populations.
One-step Conversion of Levulinic Acid to Succinic Acid Using I2/t-BuOK System: The Iodoform Reaction Revisited
Authors: Kawasumi Ryosuke , Narita Shodai , Miyamoto Kazunori , Tominaga Ken-ichi , Takita Ryo , Uchiyama Masanobu 
Published: December 2017

AbstractThe iodoform reaction has long been used as a qualitative test for acetyl and/or ethanol units in organic molecules. However, its synthetic applications are quite limited. Here, we describe a tuned iodoform reaction for oxidative demethylation reaction with I2 and t-BuOK in t-BuOH, in which in situ-generated t-BuOI serves as the chemoselective iodinating agent. This system enables one-step conversion of levulinic acid to succinic acid, a major four-carbon chemical feedstock. This oxidative demethylation is also applicable to other compounds containing an acetyl group/ethanol unit, affording the corresponding carboxylic acids in a selective manner.
The mediating role of sleep in the fish consumption – cognitive functioning relationship: a cohort study
Authors: Liu Jianghong , Cui Ying , Li Linda , Wu Lezhou , Hanlon Alexandra , Pinto-Martin Jennifer , Raine Adrian , Hibbeln Joseph R. 
Published: December 2017

AbstractGreater fish consumption is associated with improved cognition among children, but the mediating pathways have not been well delineated. Improved sleep could be a candidate mediator of the fish-cognition relationship. This study assesses whether 1) more frequent fish consumption is associated with less sleep disturbances and higher IQ scores in schoolchildren, 2) such relationships are not accounted for by social and economic confounds, and 3) sleep quality mediates the fish-IQ relationship. In this cohort study of 541 Chinese schoolchildren, fish consumption and sleep quality were assessed at age 9–11 years, while IQ was assessed at age 12. Frequent fish consumption was related to both fewer sleep problems and higher IQ scores. A dose-response relationship indicated higher IQ scores in children who always (4.80 points) or sometimes (3.31 points) consumed fish, compared to those who rarely ate fish (all p < 0.05). Sleep quality partially mediated the relationship between fish consumption and verbal, but not performance, IQ. Findings were robust after controlling for multiple sociodemographic covariates. To our knowledge, this is the first study to indicate that frequent fish consumption may help reduce sleep problems (better sleep quality), which may in turn benefit long-term cognitive functioning in children.
Cell Cycle Model System for Advancing Cancer Biomarker Research
Authors: Lazar Iulia M. , Hoeschele Ina , de Morais Juliana , Tenga Milagros J. 
Published: December 2017

AbstractProgress in understanding the complexity of a devastating disease such as cancer has underscored the need for developing comprehensive panels of molecular markers for early disease detection and precision medicine applications. The present study was conducted to assess whether a cohesive biological context can be assigned to protein markers derived from public data mining, and whether mass spectrometry can be utilized to screen for the co-expression of functionally related biomarkers to be recommended for further exploration in clinical context. Cell cycle arrest/release experiments of MCF7/SKBR3 breast cancer and MCF10 non-tumorigenic cells were used as a surrogate to support the production of proteins relevant to aberrant cell proliferation. Information downloaded from the scientific public domain was queried with bioinformatics tools to generate an initial list of 1038 cancer-associated proteins. Mass spectrometric analysis of cell extracts identified 352 proteins that could be matched to the public list. Differential expression, enrichment, and protein-protein interaction analysis of the proteomic data revealed several functionally-related clusters of relevance to cancer. The results demonstrate that public data derived from independent experiments can be used to inform biological research and support the development of molecular assays for probing the characteristics of a disease.
Inferring evolutionary responses of Anolis carolinensis introduced into the Ogasawara archipelago using whole genome sequence data
Authors: Tamate Satoshi , Iwasaki Watal M. , Krysko Kenneth L. , Camposano Brian J. , Mori Hideaki , Funayama Ryo , Nakayama Keiko , Makino Takashi , Kawata Masakado 
Published: December 2017

AbstractInvaded species often can rapidly expand and establish in novel environments through adaptive evolution, resulting in devastating effects on native communities. However, it is unclear if genetic variation at whole-genomic levels is actually reduced in the introduced populations and which genetic changes have occurred responding to adaptation to new environments. In the 1960s,Anolis carolinensiswas introduced onto one of the Ogasawara Islands, Japan, and subsequently expanded its range rapidly throughout two of the islands. Morphological comparison showed that lower hindlimb length in the introduced populations tended to be longer than those in its native Florida populations. Using re-sequenced whole genomic data, we estimated that the effective population size at the time of introduction was actually small (less than 50). We also inferred putative genomic regions subject to natural selection after this introduction event using SweeD and a method based on Tajima’s D,πandFST. Five candidate genes that were potentially subject to selection were estimated by both methods. The results suggest that there were standing variations that could potentially contribute to adaptation to nonnative environments despite the founder population being small.