bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fibrinogen-Varianten: Biochemie, Molekularbiologie und Diagnostik
Authors: Henschen Agnes 
Published: June 2018

ZusammenfassungDas humane Fibrinogen hat ein Molekulargewicht von 340 kD und eine Struktur, die mit (Aα, Bβ, γ)2 beschrieben werden kann. Es ist ein außerordentlich heterogenes Protein, da zahlreiche Bereiche des Moleküls während oder nach der Biosynthese modifiziert werden, die Modifikationen gewöhnlich unvollständig sind und in einzelnen Molekülen unterschiedlich kombiniert sein können. Die bis jetzt bekannten Modifikationen sind: alternative Prozessierung bei der Synthese, Phosphorylierung, Sulfatierung, Hydroxylierung, Oxidierung, Amid-AmmoniakVerlust, Glykosylierung, proteolytischer Abbau und genetischer Polymorphismus. Hieraus kann berechnet werden, daß das Fibrinogen in mehr als einer Million nichtidentischer Formen im Blut jedes Menschen vorhanden ist. Bei einigen Modifikationen ist eine Beziehung zu Erkrankungen bekannt. Zusätzliche Modifikationen entstehen durch Mutationen und führen zu Dysfibrinogenämien, die schon bei mehr als 80 Familien in ihrer Struktur aufgeklärt wurden.
Molekularbiologische Grundlagen und Diagnostik der hereditären Defekte von Antithrombin III, Protein C und Protein S
Authors: Witt Irene 
Published: June 2018

ZusammenfassungDie enormen Fortschritte in der Molekularbiologie in den letzten Jahren ermöglichten sowohl die Aufklärung der Nukleotidsequenzen der Gene für Antithrombin III (AT III), Protein C (PROC) und Protein S (PROS) als auch die Identifizierung zahlreicher Mutationen bei hereditären Defekten dieser wichtigen Inhibitoren des plasmatischen Gerinnungssystems. Da die Gene für AT III (13,8 kb) und PROC (11,2 kb) nicht groß und relativ leicht zu analysieren sind, gibt es bereits umfangreiche »databases« der Mutationen (50, 73). Für AT III sind 79 und für RPOC 160 unterschiedliche Mutationen beschrieben.Sowohl beim AT-Ill-Mangel als auch beim Protein-C-Mangel hat die Mutationsaufklärung neue Erkenntnisse über die Struktur-Funktions-Beziehung der Proteine gebracht. Beim Protein-C-Mangel steht die klinische Relevanz der DNA- Analyse im Vordergrund, da die Diagnostik des Protein-C-Mangels auf der Proteinebene nicht immer zuverlässig möglich ist.Das Protein-S-Gen ist für die Analytik schwer zugänglich, da es groß ist (80 kb) und außerdem ein Pseudogen existiert. Es sind schon zahlreiche Mutationen bei Patienten mit Protein-S-Mangel identifiziert worden. Eine Database ist bisher nicht publiziert. Die klinische Notwendigkeit zur Mutationsaufklärung besteht ebenso wie beim Protein-C-Mangel. Es ist zu erwarten, daß zukünftig die Identifizierung von Mutationen auch beim Protein-S-Mangel beschleunigt vorangeht.
Sudden and Persistent Bradycardia: An Unexpected Indicator of Pin-Site Extradural Hematoma in a Pediatric Patient
Authors: Nandi Roneeta , Redhu Shruti , Patir Rana , Dash Hari Hara 
Published: June 2018

AbstractDepressed skull fracture and extradural hematoma are infrequent complications of skull pin fixation in children undergoing craniotomy. Neurosurgeons are often alerted about these complications by intraoperative brain swelling or postoperative neurological deterioration. We describe the development of pin-site extradural hematoma in a child on whom Mayfield skull clamp was applied during posterior fossa tumor excision. Sudden and persistent bradycardia observed by the anesthesiologist served as the sole warning sign. Such an on-table indicator of pin-site extradural hematoma has not been described earlier. The anesthesiologist must maintain vigilance and effective communication with surgical colleagues to ensure early detection and timely management of these pin-site complications.
Cell-Based Therapies in Vascularized Composite Allotransplantation
Authors: Mohan Anita , Morrison Shane , Tran Duy , Mardini Samir , Vyas Krishna 
Published: June 2018

Background Dendritic cells (DCs) are bone marrow-derived, professional antigen-presenting cells with tolerogenic function. The ability of DCs to regulate alloantigen-specific T cell responses and to promote tolerance has aligned them ideally for a role in vascularized composite allotransplantation (VCA). In this study, we summarize the current evidence for DC therapies for tolerance induction to alleviate the requirement for chronic immunosuppression.
Method A comprehensive and structured review of manuscripts published on VCA was performed using the MEDLINE and PubMed databases. All eligible studies published from the year 2000 to 2017 were included in the final results.
Result Nineteen original preclinical and clinical studies that employed cell therapy for VCA were included in this review. In vivo DC therapy was found to direct the alloimmune response toward either transplant rejection or tolerance in VCA models. While injection of mature DCs rapidly increases T-cell activity in humans and promotes transplant rejection, the injection of immature DCs acts as an immunosuppressant and inhibits T-cell activity. In addition to immature DCs, mesenchymal stem cells were also found to have a positive effect on allotransplantation of solid organs and bone marrow via cytokine expression which decreases the alloreactive effector lymphocytes and increases CD4+/CD25+/FoxP3 Tregs. Despite the promising findings, the efficacy of cell-based therapies varies greatly across studies, partly due to different methods of cell isolation and purification techniques, source, route and timing of administration, and combination immunosuppressive therapy.
Conclusion Additional research is needed to evaluate the efficacy and safety of DC and other cell-based therapeutic measures in human allotransplant recipients. Future direction will focus on the development of novel methods to reduce immunosuppression and develop more individualized management, as well as the clinical application of basic research in the mechanisms of immunologic tolerance.
Diabetes und Mundgesundheit
Authors: Kessler Diana 
Published: June 2018

ZUSAMMENFASSUNGDiabetes und Parodontitis sind chronische Erkrankungen mit hoher Prävalenz. Dabei ist es nicht nur so, dass der Diabetes einen Einfluss auf die Gesundheit des Zahnhalteapparates (des Parodonts) hat. Die Zusammenhänge sind nämlich bidirektional. Die Parodontitis, eine durch orale Bakterien verursachte entzündliche Erkrankung, wirkt sich auch auf die Blutzuckerspiegel des Diabetikers aus und erhöht sogar das Risiko für diabetes-assoziierte Folgeerkrankungen. Um beide Erkrankungen erfolgreich zu behandeln, müssen wir über die medizinischen Fachgrenzen hinaus zusammenarbeiten.
Grain boundary diffusion of magnetron sputter coated heavy rare earth elements in sintered Nd-Fe-B magnet
Authors: Wu Binghui , Zhang Qingke , Li Weidong , Ding Xuefeng , Yang Lijing , Ghafar Wattoo Abdul , Zhang Lijiao , Mao Shoudong , Song Zhenlun 
Published: June 2018

The diffusion of Tb or Dy heavy rare earth elements (HREEs) coated on sintered Nd-Fe-B magnets by a direct current (DC) magnetron sputtering and its influences on microstructure, magnetic properties and electrochemical properties of the magnets were investigated. The results reveal that the HREE diffuses into the magnet and substitutes some of the Nd to form a (Nd1-x,HREEx)2Fe14B shell. The HREE concentration along the direction perpendicular to the sputtered coating surface shows a dual-trend distribution, which was considered to be induced by a fast diffusion in the grain boundary phase and a slow diffusion in the grain phase. The diffusion of DC magnetron sputtered metallic Tb or Dy shows higher efficiency of HREE consumption and greater gain of the coercivity compared with diffusion sources prepared by some other coating methods or consisted of HREE compounds. The coercivity increases from 14.6 kOe for a 5 mm thick original specimen to 24.0 kOe and 19.5 kOe for the Tb and Dy diffused specimens when the coating thickness on a double surface of the specimen is about 12.0 μm. The HREE-diffused magnets also show better corrosion resistance.
At the request of the authors, this article is being retracted effective 8 July 2019.
Gentamicin inducesLAMB3nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
Authors: Lincoln Vadim , Cogan Jon , Hou Yingping , Hirsch Michaela , Hao Michelle , Alexeev Vitali , De Luca Michele , De Rosa Laura , Bauer Johann W. , Woodley David T. , Chen Mei 
Published: June 2018

SignificancePremature termination codons (PTCs) generated by nonsense mutations produce abnormal, short, or diminished proteins. Eighty-three percent of patients with Herlitz junctional epidermolysis bullosa (H-JEB), an inherited, incurable skin disease, harbor nonsense mutation(s) in genes encoding a structural protein (laminin 332) responsible for skin adherence. Gentamicin, a common antibiotic, was shown to induce readthrough of PTCs in various disease models. Using in vitro assays and 3D skin models, we found that H-JEB cells harboring nonsense mutations exposed to gentamicin produce full-length structural protein, deposit it correctly between skin layers, and exhibit reversal of other H-JEB–associated cellular abnormalities. Our findings indicate that gentamicin may present an immediate therapy for this otherwise fatal disease and other skin disorders caused by nonsense mutations.
Enrichment of extracellular vesicles from human synovial fluid using size exclusion chromatography
Authors: Foers Andrew D. , Chatfield Simon , Dagley Laura F. , Scicluna Benjamin J. , Webb Andrew I. , Cheng Lesley , Hill Andrew F. , Wicks Ian P. , Pang Ken C. 
Published: June 2018

ABSTRACTAs a complex biological fluid, human synovial fluid (SF) presents challenges for extracellular vesicle (EV) enrichment using standard methods. In this study of human SF, a size exclusion chromatography (SEC)‐based method of EV enrichment is shown to deplete contaminants that remain after standard ultracentrifugation‐based enrichment methods. Specifically, considerable levels of serum albumin, the high‐density lipoprotein marker, apolipoprotein A‐I, fibronectin and other extracellular proteins and debris are present in EVs prepared by differential ultracentrifugation. While the addition of a sucrose density gradient purification step improved purification quality, some contamination remained. In contrast, using a SEC‐based approach, SF EVs were efficiently separated from serum albumin, apolipoprotein A‐I and additional contaminating proteins that co‐purified with high‐speed centrifugation. Finally, using high‐resolution mass spectrometry analysis, we found that residual contaminants which remain after SEC, such as fibronectin and other extracellular proteins, can be successfully depleted by proteinase K. Taken together, our results highlight the limitations of ultracentrifugation‐based methods of EV isolation from complex biological fluids and suggest that SEC can be used to obtain higher purity EV samples. In this way, SEC‐based methods are likely to be useful for identifying EV‐enriched components and improving understanding of EV function in disease.
Unraveling the role of low-frequency mutated genes in breast cancer
Authors: Lusito Eleonora , Felice Barbara , D’Ario Giovanni , Ogier Alessandro , Montani Francesca , Di Fiore Pier Paolo , Bianchi Fabrizio 
Published: June 2018

Abstract

Motivation
Breast cancer is the most commonly diagnosed malignancy in women and the second cause of cancer death in developed countries. While advancements in early detection and therapeutic options have led to a significant decrease in mortality, response to treatment is affected by the genetic heterogeneity of the disease. Recent genome-wide DNA mutation analyses revealed the existence of hundreds of low-frequency mutated genes, in addition to known cancer drivers: a finding that is prompting research into the impact of these genes on the pathogenesis of the disease.

Results
Herein, we describe a strategy towards the characterization of the role of low-frequency mutated genes in breast cancer. Through the combined analyses of publicly available gene expression and mutational datasets, we identified several Cancer Gene Modules (CMs) that we re-organized in Gene Regulatory Networks (GRN) enriched in low-frequency mutated genes. Importantly, these low-frequency mutated genes were mutually exclusive with known cancer drivers. Finally, we provide evidence that gene expression analysis of these mutated GRNs can predict resistance/sensitivity to chemotherapeutic drugs for breast cancer treatment.

Availability and implementation
Datasets are available at https://www.ncbi.nlm.nih.gov/geo/ and at https://www.ebi.ac.uk/ega/datasets/. Molecular signatures and GSEA software are available at http://www.gsea-msigdb.org/gsea/index.jsp. Source codes are available at https://github.com/EleonoraLusito/Reverse_Engineering_BC_GRNs.

Supplementary information
Supplementary data are available at Bioinformatics online.
GeneCT: a generalizable cancerous status and tissue origin classifier for pan-cancer biopsies
Authors: Sun Kun , Wang Jiguang , Wang Huating , Sun Hao 
Published: June 2018

Abstract

Motivation
Tissue biopsy is commonly used in cancer diagnosis and molecular studies. However, advanced skills are required for determining cancerous status of biopsies and tissue origin of tumor for cancerous ones. Correct classification is essential for downstream experiment design and result interpretation, especially in molecular cancer studies. Methods for accurate classification of cancerous status and tissue origin for pan-cancer biopsies are thus urgently needed.

Results
We developed a deep learning-based classifier, named GeneCT, for predicting cancerous status and tissue origin of pan-cancer biopsies. GeneCT showed high performance on pan-cancer datasets from various sources and outperformed existing tools. We believe that GeneCT can potentially facilitate cancer diagnosis, tumor origin determination and molecular cancer studies.

Availability and implementation
GeneCT is implemented in Perl/R and supported on GNU/Linux platforms. Source code, testing data and webserver are freely available at http://sunlab.cpy.cuhk.edu.hk/GeneCT/.

Supplementary information
Supplementary data are available at Bioinformatics online.
How do universities implement the Health Promoting University concept?
Authors: Suárez-Reyes Mónica , Muñoz Serrano Mónica , Van den Broucke Stephan 
Published: June 2018

Summary
The Health Promoting University (HPU) concept encourages universities to incorporate health into the university culture, processes and policies in an effort to promote the health of the university community. Universities worldwide have adopted the approach and a framework for action has been developed to guide universities to become a HPU. However, information on how universities translate the framework into actions is scarce. This study explored the way in which 54 universities from 25 countries across the world implemented the HPU framework. An online questionnaire was used to assess the action areas and items of work addressed by the universities and to determine their adherence to the components of the HPU framework: use of the whole systems approach; multiservice collaboration; recognition by the university authorities; funding availability; membership of a HPU network and evaluation of the initiative. The results showed that these components were addressed by most universities. A Multi Correspondence and cluster analysis identified four types of universities based on the implementation of the components: ‘emerging’ HPUs that are not recognized by the university authorities and tend to not apply the whole systems approach or evaluation of the initiative, and ‘established’ HPUs that are recognized by the authorities, apply the whole systems approach and evaluate the initiative but that differ with regard to funding and membership of a HPU network. These results demonstrate that universities implement the HPU framework for action differently in order to become a Health Promoting University.
Predictors of Varenicline Adherence Among Cancer Patients Treated for Tobacco Dependence and its Association With Smoking Cessation
Authors: Crawford Grace , Weisbrot Jessica , Bastian Joseph , Flitter Alex , Jao Nancy C , Carroll Allison , Kalhan Ravi , Leone Frank , Hitsman Brian , Schnoll Robert 
Published: June 2018

Abstract

Introduction
The degree to which smokers adhere to pharmacotherapy predicts treatment success. The development of interventions to increase adherence requires identification of predictors of treatment adherence, particularly among specific clinical populations.

Methods
Using data from a 12-week open-label phase of a clinical trial of varenicline for tobacco dependence among cancer patients (N = 207), we examined: (1) the relationship between self-reported varenicline adherence and verified smoking cessation and (2) demographic and disease-related variables, and early changes in cognition, affect, withdrawal, the reinforcing effects of smoking, and medication side effects, as correlates of varenicline adherence.

Results
At the end of 12 weeks, 35% of the sample had quit smoking and 52% reported taking ≥80% of varenicline. Varenicline adherence was associated with cessation (p &lt; .001): 58% of participants who were adherent had quit smoking versus 11% of those who were not. Participants who experienced early reductions in depressed mood and satisfaction from smoking and experienced an increase in the toxic effects of smoking, showed greater varenicline adherence (p &lt; .05); the relationship between greater adherence and improved cognition, reduced craving, and reduced sleep problems and vomiting approached significance (p &lt; .10).

Conclusions
Among cancer patients treated for tobacco dependence with varenicline, adherence is associated with smoking cessation. Initial changes in depressed mood and the reinforcing effects of smoking are predictive of adherence.

Implications
The benefits of varenicline for treating tobacco dependence among cancer patients may depend upon boosting adherence by addressing early signs of depression and reducing the reinforcing dimensions of cigarettes.
Hookah Use Among US Youth: A Systematic Review of the Literature From 2009 to 2017
Authors: Cooper Maria , Pacek Lauren R , Guy Mignonne C , Barrington-Trimis Jessica L , Simon Patricia , Stanton Cassandra , Kong Grace 
Published: June 2018

Abstract

Introduction
Given the US Food and Drug Administration (FDA)’s authority to regulate hookah, more research is needed to inform regulations intended to prevent youth from using hookah. This systematic review summarizes and assesses the literature related to hookah use among adolescents (11 to ≤18 years of age) in the United States from 2009 to 2017.

Methods
Database searches yielded 867 peer-reviewed articles. After duplicates were removed, authors reviewed 461 articles for inclusion. Included articles (n = 55) were coded for study themes, study quality, and their relevance to FDA’s research priorities. A qualitative synthesis is presented.

Results
The following themes were identified: (1) prevalence of hookah use (n = 42), (2) tobacco use transitions (n = 7), (3) sociodemographic correlates (n = 35), (4) psychosocial risk factors (n = 21), (5) concurrent use of other tobacco products (n = 31), (6) concurrent use of other substances (n = 9), and (7) other (n = 15)—which includes low prevalence themes. The qualitative synthesis showed increasing rates of hookah use. Older age, male gender, positive social normative beliefs, higher peer use, as well as lower perceived risk were associated with hookah use. Longitudinal studies of youth hookah use showed bidirectional relationships between use of hookah and other tobacco products. All articles fell within FDA’s research priority related to “behavior,” and three priorities (“impact analysis,” “health effects,” and “toxicity”) have not been explored for hookah use among US youth since 2009.

Conclusions
The prevalence of hookah use among youth in the United States is increasing, thus more research is needed to inform policies targeted to protect this vulnerable population.

Implications
This study represents a novel contribution to our understanding of hookah use among youth in the United States from 2009—the year that the Family Smoking Prevention and Tobacco Control Act was passed—to 2017. In recent years, hookah has become a more popular tobacco product among US youth; however, to date, no systematic reviews of hookah use among this population exist. Results highlight implications for future US FDA regulatory policy and identify gaps in research to be addressed in future studies.
Hybrid semiparametric systems for quantitative sequence-activity modeling of synthetic biological parts
Authors: Portela Rui M C , von Stosch Moritz , Oliveira Rui 
Published: June 2018

Abstract
Predicting the activity of modified biological parts is difficult due to the typically large size of nucleotide sequences, resulting in combinatorial designs that suffer from the “curse of dimensionality” problem. Mechanistic design methods are often limited by knowledge availability. Empirical methods typically require large data sets, which are difficult and/or costly to obtain. In this study, we explore for the first time the combination of both approaches within a formal hybrid semiparametric framework in an attempt to overcome the limitations of the current approaches. Protein translation as a function of the 5’ untranslated region sequence in Escherichia coli is taken as case study. Thermodynamic modeling, partial least squares (PLS) and hybrid parallel combinations thereof are compared for different data sets and data partitioning scenarios. The results suggest a significant and systematic reduction of both calibration and prediction errors by the hybrid approach in comparison to standalone thermodynamic or PLS modeling. Although with different magnitudes, improvements are observed irrespective of sample size and partitioning method. All in all the results suggest an increase of predictive power by the hybrid method potentially leading to a more efficient design of biological parts.
ACOG Clinical Updates Summary: Incidental Radiologic Findings
Authors: Olpin Jeffrey , Linstroth Laura 
Published: June 2018

Abstract:
Over the past several decades, the use of cross-sectional imaging has steadily increased largely because of increasing refinements in imaging technology. The progressive improvement in both spatial and temporal resolution of imaging modalities over the years has enabled radiologists to diagnose and characterize disorders with increasing accuracy. However, improved resolution has led to the increased detection of imaging findings that may or may not be clinically relevant. Such incidental findings or “incidentalomas” may be difficult to differentiate from clinically relevant lesions. Radiologists may provide disparate recommendations regarding incidental or indeterminate findings when interpreting results of gynecologic and obstetric imaging examinations in routine clinical practice. Vague recommendations pose challenges for referring clinicians who are unable to determine the clinical relevance of such lesions. Therefore, a general awareness of incidental lesions for any given abdominal or thoracic organ is important for obstetrician–gynecologists involved in the management of patients who require imaging studies. The aim of this monograph is to aid obstetrician–gynecologists in the detection, characterization, and management of incidentally detected lesions that may be encountered on routine women’s imaging examinations.