bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population
Authors: Chen Jingchun , Wu Jain-Shing , Mize Travis , Moreno Marvi , Hamid Mahtab , Servin Francisco , Bashy Bita , Zhao Zhongming , Jia Peilin , Tsuang Ming T. , Kendler Kenneth S. , Xiong Momiao , Chen Xiangning 
Published: September 2019

AbstractRecent studies imply that rare variants contribute to the risk of schizophrenia, however, the exact variants or genes responsible for this condition are largely unknown. In this study, we conducted whole genome sequencing (WGS) of 20 Chinese families. Each family consisted of at least two affected siblings diagnosed with schizophrenia and at least one unaffected sibling. We examined functional variants that were found in affected sibling(s) but not in unaffected sibling(s) within a family. Matching this criterion, a frameshift heterozygous deletion of CA (–/CA) at chromosome 18:24722722, also referred to as rs752084147, in the Carbohydrate Sulfotransferase 9 (CHST9) gene, was detected in two families. This deletion was confirmed by PCR-based Sanger sequencing. With the observed frequency of 0.00076 in Han Chinese population, we performed both case-control and family-based analyses to evaluate its association with schizophrenia. In the case-control analyses, Chi-square test P-value was 6.80e-12 and the P-value was 0.0008 after one million simulations. In family-based segregation analyses, segregation P-value was 7.72e-7 and simulated P-value was 5.70e-6. For both the case-control and family-based analyses, the CA deletion was significantly associated with schizophrenia in the Chinese population. Further investigation of this gene is warranted in the development of schizophrenia by utilizing larger and more ethnically diverse samples.
Validating mitochondrial electron transport chain content in individuals at clinical high risk for psychosis
Authors: Wu Abbie , Da Silva Tania , Jacobson Maya , Tagore Abanti , Lalang Nittha , Kiang Michael , Mizrahi Romina , Andreazza Ana C. 
Published: September 2019

AbstractAltered mitochondrial electron transport chain function has been implicated in the pathophysiology and etiology of schizophrenia. To date, our previously published study (i.e. first cohort) is still the only study to demonstrate that mitochondrial electron transport chain is not altered in white blood cells from individuals at clinical high risk for psychosis. Here, we aimed to replicate our previous findings with an independent set of samples and validate the levels of mitochondrial complex I-V content in individuals at clinical high risk for psychosis. We demonstrated that the second cohort (i.e. validation cohort) expressed similar results as the first cohort. We combined the first cohort study with the second cohort and once more validated a lack of differential levels in mitochondrial complex I-V content between the two groups. In addition, we were able to validate a correlation between complex III content and prodromal negative symptom severity when the two cohorts studies were combined. Additionally, a correlation between complex V content and prodromal disorganization symptom severity was found when the two cohorts were combined. In conclusion, our results showed that dysfunction of the mitochondrial electron transport chain is not detected in peripheral blood mononuclear cells of individuals in the putative prodromal stage of schizophrenia.
Proteomic profiling of extracellular vesicles allows for human breast cancer subtyping
Authors: Rontogianni Stamatia , Synadaki Eleni , Li Bohui , Liefaard Marte C. , Lips Esther H. , Wesseling Jelle , Wu Wei , Altelaar Maarten 
Published: September 2019

AbstractExtracellular vesicles (EVs) are a potential source of disease-associated biomarkers for diagnosis. In breast cancer, comprehensive analyses of EVs could yield robust and reliable subtype-specific biomarkers that are still critically needed to improve diagnostic routines and clinical outcome. Here, we show that proteome profiles of EVs secreted by different breast cancer cell lines are highly indicative of their respective molecular subtypes, even more so than the proteome changes within the cancer cells. Moreover, we detected molecular evidence for subtype-specific biological processes and molecular pathways, hyperphosphorylated receptors and kinases in connection with the disease, and compiled a set of protein signatures that closely reflect the associated clinical pathophysiology. These unique features revealed in our work, replicated in clinical material, collectively demonstrate the potential of secreted EVs to differentiate between breast cancer subtypes and show the prospect of their use as non-invasive liquid biopsies for diagnosis and management of breast cancer patients.
Differential effects of olive oil, soybean oil, corn oil and lard oil on carbon tetrachloride-induced liver fibrosis in mice
Authors: Gao Yanan , Li Xuguang , Gao Qiang , Fan Li , Jin Haobin , Guo Yueping 
Published: September 2019

Abstract
Olive oil could attenuate carbon tetrachloride (CCl4) induced liver fibrosis (LF) in mouse model. The present study aimed to evaluate the effects of other common oils on CCl4 induced LF. Healthy male ICR mice were administered with CCl4 intraperitoneally at 2.5 ml/kg twice a week for total 3 weeks. Mice were pre-treated with olive oil, soybean oil, corn oil or lard oil. After treatment, histopathological changes were observed using Masson trichrome staining, and alanine aminotransferase (ALT), aspartate aminotransferase (AST), malondialdehyde (MDA), hydroxyproline (HYP) and triglyceride (TG) were measured by commercial kits. The expression of LF related genes was detected by quantitative real-time PCR. We found that soybean oil or olive oil significantly reduced ALT and AST levels in serum, and MDA, HYP and TG levels in the liver, compared with corn oil or lard oil. Moreover, Masson trichrome staining and real-time PCR showed that the mice treated with CCl4 dissolved in soybean oil or olive oil had less fibrosis and apoptosis in the liver comparted to the mice treated with CCl4 dissolved in corn oil or lard oil. In conclusion, soybean oil but not corn or lard oil exerts protective effects against CCl4 induced LF in mice, possibly due to its antioxidant activity.
946 nm 25 mJ/3 ns Nd:YAG laser based on regenerative amplification of pulses
Authors: Kornev A.F. , Pokrovskiy V.P. , Kovyarov A.S. , Viktorov E.A. 
Published: September 2019

Regenerative amplification of 946 nm pulses which are sliced from 12 mW continuous wave laser diode is reported. Near‐transform‐limited 2.9 ns pulses with highly stable and smooth temporal shape were obtained with the energy of 25 mJ/50 Hz and M2 < 1.2.
On the recent parametric determination of an asteroseismological model for the DBV star KIC 08626021
Authors: De Gerónimo Francisco C. , Battich Tiara , Miller Bertolami Marcelo M. , Althaus Leandro G. , Córsico Alejandro H. 
Published: September 2019

Context.Asteroseismology of white dwarf stars is a powerful tool that allows us to reveal the hidden chemical structure of white dwarfs and infer details about their present and past evolution by comparing the observed periods with those obtained from appropriate stellar models. A recent asteroseismological study has reproduced the period spectrum of the helium-rich pulsating white dwarf KIC 08626021 with the unprecedented precision of (Pobs − Pmodel)/Pmodel <  10−8. The chemical structure derived from that asteroseismological analysis is notably different from that expected for a white dwarf according to currently accepted formation channels. It therefore poses a challenge to the theory of stellar evolution.Aims.We explore the relevant micro- and macrophysics processes that act during the formation and evolution of KIC 08626021 and might lead to a chemical structure similar to that found through asteroseismology. We quantify to which extent it is necessary to modify the physical processes that shape the chemical structure in order to reproduce the most important features of the asteroseismic model.Methods.We modeled the previous evolution of KIC 08626021 by exploring specific changes in the12C(α, γ)16O reaction rate, screening processes, microscopic diffusion, and convective boundary mixing during core-He burning.Results.We find that in order to reproduce the core chemical profile derived for KIC 0862602, the12C+αnuclear reaction rate has to be increased by a factor of ∼10 during the helium-core burning, and reduced by a factor of ∼1000 during the following helium-shell burning as compared with the standard predictions for this rate. In addition, the main chemical structures derived for KIC 0862602, such as the very thin helium-pure envelope, the mass of the carbon-oxygen core, and the pure C buffer, cannot be reconciled with our current knowledge of white dwarf formation.Conclusion.We find that within our current understanding of white dwarf formation and evolution, it is difficult to reproduce the most important asteroseismologically derived features of the chemical structure of KIC 08626021.
Inner and outer star forming regions over the disks of spiral galaxies
Authors: Rodríguez-Baras M. , Díaz A. I. , Rosales-Ortega F. F. 
Published: September 2019

Context.The H IIregions are all studied employing the same general prescriptions and models, independently of the regions location in the galaxy disk. However, observed discrepancies between physical properties of inner and outer regions may indicate systematic differences in their star formation processes due to the influence of their environments.Aims.Through the analysis of inner and outer H IIregion observed spectra, we aim to explore possible systematic differences between the physical properties (metallicity, mass, and age) of their ionising clusters in order to study how star formation proceeds in different environments.Methods.We analysed two samples of 725 inner and 671 outer regions, characterised in the first paper of this series. Their functional parameters (oxygen abundances, ionisation parameters, and effective temperatures) were estimated and this parameter grid is employed as input for the computation of 540 Cloudy photoionisation models. Observed regions are compared with model predictions using diagnostic and evolutionary diagrams.Results.Higher metallicities are confirmed for the inner regions, although there are important discrepancies between the diagnostic diagrams. Calibrations based on the N2 index may underestimate inner regions oxygen abundances due to the [N II] saturation at solar metallicities. The degeneracy between the age and ionisation parameter affects oxygen abundance calibrations based on the O3N2 index. Innermost regions seem to have enhanced N/O ratios with respect to the expected values considering secondary production of nitrogen, which indicate an increase in the slope of the relation between N/O and O/H. Ionisation parameter calibrations based on the [S II]/Hαratio are not valid for inner regions due to the observed bivalued behaviour of this ratio with O/H. Innermost regions have lower [O II]/[O III] ratio values than expected, indicating a possible non-linear relation betweenuandZ. Composite stellar populations (ionising and non-ionising) are present in both inner and outer regions, with an ionising contribution of around 1%. In considering the effects of evolution and underlying populations, inner regions show larger ionising cluster masses that possibly compose star-forming complexes. The most conservative lower limit for ionising cluster masses of outer regions indicate that they might be affected by stochastic effects. Equivalent widths indicate younger ages for outer regions, but degeneracy between evolution and underlying population effects prevent a quantitative determination. Nebular properties of the H IIregions are also derived: inner regions have larger angular sizes, lower filling factors, and larger ionised hydrogen masses.Conclusions.Systematic physical differences are confirmed between ionising clusters of inner and outer H IIregions. These differences condition the validity and range of reliability of oxygen abundance and ionisation parameter calibrations commonly applied to the study of H IIregions.
Morphologische Diagnostik und genetische Alterationen von Schilddrüsentumoren mit Follikelzelldifferenzierung
Authors: Schmid Kurt Werner , Herrmann Ken 
Published: September 2019

ZusammenfassungDie morphologische Diagnostik von Schilddrüsentumoren dient in erster Linie dem klinischen Management. Die Feinnadelbiopsie (FNB) soll eine Entscheidungshilfe für oder gegen eine Operation sein; der intraoperative Gefrierschnitt soll das Operationsausmaß mitbestimmen und Zweitoperationen vermeiden helfen. Die beiden letztgenannten Methoden haben aber beträchtliche Limitationen, sodass in vielen Fällen die morphologische Dignitätsbestimmung erst in der endgültigen Paraffinhistologie gelingt, wobei für die exakte Diagnosefindung auch der Einsatz der Immunhistochemie und zunehmend molekularpathologischer Analysen zur Verfügung stehen. Die klassische Unterteilung der Schilddrüsentumoren in benigne und maligne wurde nach der 2017 veröffentlichen WHO-Klassifikation um die Gruppe der Neoplasien mit unsicherem/(extrem) geringem Malignitätspotenzial erweitert. Durch die Etablierung der „nicht invasiven follikulären Neoplasie mit PTC-äquivalenten Kernmerkmalen (NIFTP)“ wird erstmalig aufgrund des erwiesenen indolenten biologischen Verhaltens eine Subgruppe von nach bisherigen Diagnosekriterien als gekapselte follikuläre Variante des papillären Karzinoms (FV-PTC) klassifizierte Tumoren nicht mehr als Krebs bezeichnet, wodurch den betroffenen Patienten sowohl eine Übertherapie als auch die psychologische Belastung durch die Krebsdiagnose erspart wird.Der in der Pathologie erhobene Befund von Schilddrüsenneoplasien beruht zwischenzeitlich auf einer Reihe durchaus subtiler morphologischer und/oder molekularpathologischer Kriterien. Dieser Befund ist aber der entscheidende Parameter des weiteren Managements der betroffenen Patienten/Patientinnen, was auch maßgeblich die Nuklearmedizin betrifft. Darüber hinaus bietet die Nuklearmedizin äußerst vielversprechende neue diagnostische und auch therapeutische Ansätze zur Behandlung des Schilddrüsenkarzinoms.
Ultrasound-Guided de Quervain's Tendon Release, Feasibility, and First Outcomes
Authors: Croutzet Pierre , Guinand Regis , Mares Olivier , Apard Thomas , Candelier Gilles , David Isabelle 
Published: September 2019

Abstract
Background de Quervain's syndrome is one of the main tendonitis of the wrist. The hypothesis of authors was that de Quervain's syndrome could be successfully treated with a specific ultrasound-guided percutaneous procedure, as it is for trigger finger.
Surgical Technique Identification of the subcompartmentalization of the first extensor compartment was performed first, using the Hiranuma's classification, prior to the surgery. Then, we assessed precisely the positions of the sensory branches of the radial nerve and drew the landmarks. Through a continuous ultrasound in-plane control, we performed a percutaneous retrograde section of each part of the first compartment of the extensors, using a dedicated surgical blade.
Methods In a cadaveric study, authors proposed to assess the feasibility and safety of a new and specific procedure and then assessed their first clinical cases. Fourteen specimen wrists were analyzed with ultrasound and the procedure was performed prior to an open control of the efficiency of the release, and safety for the superficial nerves. Then, we reported the results of the 22 first patients included in the clinical series.
Results In a cadaver laboratory, authors were able to identify with ultrasound the type of first compartment septation (subcompartmentalization) in 13 cases (n = 14). The misidentification induced one incomplete release. No damages of the superficial radial nerve were observed despite close relationship. In the small series (n = 22), the duration of surgery was 8 minutes (range: 4–18 minutes). It was performed in office surgery and no morbidities were noticed. All patients improved, from quickDASH preoperative score of 59 (range: 28–71) to quichDASH postoperative score of 9 (range: 0–25).
Conclusion Ultrasound-guided percutaneous release in the de Quervain's disease is a safe and reliable procedure without specific morbidity. Great care should be taken to avoid sensory nerve injuries and to identify the correct type of subcompartmentalization with a precise ultrasound evaluation.
Regional Contribution of Previable Infant Deaths to Infant Mortality Rates in the United States
Authors: Lee MacKenzie , Hall Eric S. , Taylor Meredith , DeFranco Emily A. 
Published: September 2019

Objective Lack of standardization of infant mortality rate (IMR) calculation between regions in the United States makes comparisons potentially biased. This study aimed to quantify differences in the contribution of early previable live births (<20 weeks) to U.S. regional IMR.
Study Design Population-based cohort study of all U.S. live births and infant deaths recorded between 2007 and 2014 using Centers for Disease Control and Prevention's (CDC's) WONDER database linked birth/infant death records (births from 17–47 weeks). Proportion of infant deaths attributable to births <20 vs. 20 to 47 weeks, and difference (ΔIMR) between reported and modified (births ≥20 weeks) IMRs were compared across four U.S. census regions (North, South, Midwest, and West).
Results Percentages of infant deaths attributable to birth <20 weeks were 6.3, 6.3, 5.3, and 4.1% of total deaths for Northeast, Midwest, South, and West, respectively, p < 0.001. Contribution of < 20-week deaths to each region's IMR was 0.34, 0.42, 0.37, and 0.2 per 1,000 live births. Modified IMR yielded less regional variation with IMRs of 5.1, 6.2, 6.6, and 4.9 per 1,000 live births.
Conclusion Live births at <20 weeks contribute significantly to IMR as all result in infant death. Standardization of gestational age cut-off results in more consistent IMRs among U.S. regions and would result in U.S. IMR rates exceeding the healthy people 2020 goal of 6.0 per 1,000 live births.
New Strategies to Tackle the Combined Biological and Social Context of Preterm Birth
Authors: Montoya-Williams Diana , Salloum Ramzi G. , Lorch Scott A. 
Published: September 2019

Objective Preterm birth rates in the population and associated racial inequities have remained relatively unchanged in the United States despite research aimed at prevention. This is potentially the result of the multifactorial pathophysiologic pathways that result in preterm birth, where biological and social drivers intersect in unique ways for different women. The field of dissemination and implementation (D&I) science may address this issue by promoting the contextually-aware uptake of science into health and health care delivery.
Study Design In this paper, we describe how the field of D&I science may afford new perspectives on preterm birth prevention to researchers and tools to design studies that translate clinical trial data into measurable changes at the level of the population. We discuss key examples where the perspectives and tools of D&I science have been used in conjunction with quality improvement methodology to change preterm birth rates in large population studies. We build on these case studies and suggest future D&I science-informed studies that could be explored.
Conclusion Incorporating D&I scientific principles into the design of studies to prevent preterm birth may allow future research to better address the varied ways in which social forces comingle with biological risk factors to result in preterm birth.
The Association between Positive Antenatal Depression Screening and Breastfeeding Initiation and Continuation
Authors: Stark Elisabeth L. , Shim Jessica , Ross Carolyn M. , Miller Emily S. 
Published: September 2019

Objective This study was aimed to determine the association between antenatal depression and breastfeeding initiation and continuation at 6 weeks postpartum.
Study Design This retrospective cohort study included all live-born deliveries after 24weeks' gestation at a single tertiary care institution between 2009 and 2014 with a documented antenatal depression screen using the Patient Health Questionnaire-9 (PHQ-9). During the study period, it was recommended that routine screening occur during both the first and third trimesters. A positive screen was defined as a PHQ-9 score ≥ 10. Breastfeeding initiation and continuation until 6 weeks' postpartum were compared between women with and without a positive screen using bivariable analyses. Stepwise backward elimination regressions were used to identify whether a positive screen was independently associated with breastfeeding rates after controlling for confounders.
Results Among the 2,871 women meeting inclusion criteria, 302 (10.5%) were screened positive for antenatal depression. After adjusting for confounders, there were no differences in breastfeeding initiation (adjusted odds ratio [aOR] = 0.78, 95% confidence interval [CI]: 0.52–1.16), but women with a positive antenatal depression screen were significantly less likely to continue breastfeeding at 6 weeks' postpartum (aOR= 0.67, 95% CI: 0.48–0.96).
Conclusion A positive antenatal depression, screened in the first or third trimester, is a significant risk factor for early breastfeeding cessation.
Nasendoscopic Findings of Velopharyngeal Sphincter in Operated Cleft Palate Patients: Is It Different than Normal Population
Authors: Sharma Akangsha , Sahu Shamendra Anand , Agrawal Karoon 
Published: September 2019

Abstract
Objective This study was aimed for nasendoscopic assessment of velopharyngeal sphinteric closure in patients with operated cleft palate and to compare it with normal population.
Design A cross-sectional study was done in a tertiary cleft care center in 30 patients with operated cleft palate after a minimum of 6 months of their surgery and 30 randomly selected volunteers with normal speech. Both groups were one-time evaluated by three observers using 70 degree rigid nasendoscope and/or pediatric fiber optic endoscope. Velopharyngeal sphincter closure characteristics in terms of pattern of closure, dominant element involved in the closure, degree of palatal movement, and completeness of the closure were evaluated, recorded, and compared between the groups.
Results In both groups, the most common pattern of closure is coronal and soft palate is the dominant mobile element in velopharyngeal closure. All normal subjects showed complete closure of the sphincter with good soft palate movement. But only 50% of the operated patients with cleft showed complete closure and even less than them had good movements of the soft palate.
Conclusions Although the pattern of the closure in the operated patients is similar to the normal subjects, the movement of the soft palate and completeness of the velopharyngeal sphincter closure still remain the problem in the operated palate patients.
Market-mediated responses confound policies to limit deforestation from oil palm expansion in Malaysia and Indonesia
Authors: Taheripour Farzad , Hertel Thomas W. , Ramankutty Navin 
Published: September 2019

SignificanceThe rapid expansion of oil palm in Malaysia and Indonesia (M&I) has contributed to record levels of deforestation, carbon emissions, and biodiversity loss. Sustainability certification schemes seeking to address this problem have fallen short of their stated goals, leading to calls for more aggressive measures. Here we explore 3 alternative conservation policies within a global economic framework and find that market-mediated responses confound the efficacy and distributional impacts of these policies. We suggest that simply limiting palm oil production or consumption is unlikely to halt deforestation in M&I in the absence of active forest conservation incentives. We also find that M&I would benefit economically by taking domestic action rather than waiting for others to act.