bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantitative proteomics identifies altered O‐GlcNAcylation of structural, synaptic and memory‐associated proteins in Alzheimer's disease
Authors: Wang Sheng , Yang Feng , Petyuk Vladislav A , Shukla Anil K , Monroe Matthew E , Gritsenko Marina A , Rodland Karin D , Smith Richard D , Qian Wei‐Jun , Gong Cheng‐Xin , Liu Tao 
Published: June 2017

AbstractProtein modification by O‐linked β‐N‐acetylglucosamine (O‐GlcNAc) is emerging as an important factor in the pathogenesis of sporadic Alzheimer's disease (AD); however, detailed molecular characterization of this important protein post‐translational modification at the proteome level has been highly challenging, owing to its low stoichiometry and labile nature. Herein, we report the most comprehensive, quantitative proteomics analysis for protein O‐GlcNAcylation in postmortem human brain tissues with and without AD by the use of isobaric tandem mass tag labelling, chemoenzymatic photocleavage enrichment, and liquid chromatography coupled to mass spectrometry. A total of 1850 O‐GlcNAc peptides covering 1094 O‐GlcNAcylation sites were identified from 530 proteins in the human brain. One hundred and thirty‐one O‐GlcNAc peptides covering 81 proteins were altered in AD brains as compared with controls (q < 0.05). Moreover, alteration of O‐GlcNAc peptide abundance could be attributed more to O‐GlcNAcylation level than to protein level changes. The altered O‐GlcNAcylated proteins belong to several structural and functional categories, including synaptic proteins, cytoskeleton proteins, and memory‐associated proteins. These findings suggest that dysregulation of O‐GlcNAcylation of multiple brain proteins may be involved in the development of sporadic AD. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives
Authors: Agather Aime , Rietzler Jennifer , Reiser Catherine A. , Petty Elizabeth M. 
Published: June 2017

AbstractThe Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi‐structured interview was designed to address genetic counselors’ experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors’ interviews were transcribed and analyzed for emergent themes. Each of the counselors had served Hmong patients in a variety of clinics and possessed counseling experience ranging from approximately one to greater than 20 years. Interviews highlighted strengths and challenges in genetic counseling sessions with Hmong patients with limited English proficiency in each of five categories: 1) relevant training during graduate school, 2) session preparation, 3) content of the counseling session, 4) perception of Hmong culture, and 5) reflections on working with Hmong interpreters. Cultural awareness and education in training programs were highlighted by all genetic counselors as valued components to patient care. All interviewees had worked with professional Hmong medical interpreters, but had different expectations for the interpreter with whom they worked. To help improve genetic services for Hmong individuals in the United States, we offer suggestions to improve some of the challenges mentioned, and recommend further studies to investigate the genetic counselor and interpreter relationship.
Using comparative sociolinguistics to inform European minority language policies: Evidence from contemporary Picard and regional French
Authors: Auger Julie , Villeneuve Anne-José 
Published: June 2017

AbstractWe argue that an evaluation of morphosyntactic convergence between Picard and French must consider multiple variables, comparing rates of (co-)occurrence of Picard-like and French-like variants and linguistic constraints across the two varieties. Contemporary oral data from interviews with Picard–French bilinguals and French monolinguals were analyzed and contrasted with older Picard data. While future temporal reference in Picard and in French appear similar based on frequency, linguistic conditioning reveals differences across varieties and over time. Auxiliary selection displays clearer Picard–French distinctions, especially when considering the effect of linguistic factors. The intersection of variables shows that the differences between Picard and French are qualitative and not simply quantitative. In the context of the debate over the status of Northern France's obsolescent varieties, we provide empirical evidence for a mental grammar in Picard distinct from that of French, and show the relevance of comparative sociolinguistics for language planning.
Linear Stability Analysis of Journal Bearings Lubricated With a Non-Newtonian Rabinowitsch Fluid
Authors: Lin J. R. , Hung T. C. , Lin C. H. 
Published: June 2017

AbstractThe linear stability boundaries of journal bearings lubricated with a non-Newtonian fluid have been investigated in this paper. Based on the Rabinowitsch fluid model, a non-Newtonian dynamic Reynolds equation for journal bearings is derived and then applied to analyze the linear dynamic characteristics of short journal bearings. Comparing with the Newtonian-lubricant case, the non-Newtonian rheology of dilatant lubricants provides a larger area of linearly stable region. However, the non-Newtonian properties of pseudo-plastic lubricants results in a reverse trend for the short journal bearing.
Continuity and Change in the Contemporary Canadian Feminist Movement
Authors: O'Neill Brenda 
Published: June 2017

AbstractThis article examines how the changing environment faced by and context within the Canadian feminist movement is reflected in the beliefs and strategies of recruits to the movement at a given point in time. The framework for the investigation is Whittier's generational approach (1997) that posits that different political generations—defined as cohorts of recruits who join a social movement during distinctive periods of protest—introduce change to its collective identity given the formative experiences faced by each generation. Using an original large sample data set, I provide evidence that the changes experienced by the Canadian feminist movement from the 1980s onwards are reflected in noticeable shifts in the collective identity and activist strategies of subsequent waves of feminist recruits. The findings suggest that further research into cohort recruitment and replacement is essential for understanding the forces at play in shaping the contemporary Canadian feminist movement.
Functional PIN1 promoter polymorphisms associated with risk of nasopharyngeal carcinoma in Southern Chinese populations
Authors: Zeng Liuyan , Luo Shengqun , Li Xin , Lu Mengxuan , Li Huahui , Li Tong , Wang Guanhua , Lyu Xiaoming , Jia Wenrui , Dong Zigang , Jiang Qiang , Shen Zhihua , Huang Guo-Liang , He Zhiwei 
Published: June 2017

AbstractOur previous work reported the association between two single nucleotide polymorphisms (SNPs) in PIN1 promoter and nasopharyngeal carcinoma (NPC) risk with a small sample size in a low incidence area. This study investigated the association between the two SNPs and NPC risk in 733 patients and 895 controls from a high incidence area. The results indicated the genotype and allele frequencies of -842G > C and -667C > T were both significantly different between patients and controls even using the resampling statistics. The -842GC and -667TT genotypes showed a significantly increased risk of NPC (OR = 1.977, 95% CI = 1.339–2.919, P = 0.001 and OR = 1.438, 95% CI = 1.061–1.922, P = 0.019, respectively). Compared to the most common -842G-667C haplotype, -842G-667T haplotype and -842C-667C haplotype showed a significantly increased risk of NPC (OR = 1.215, 95% CI = 1.053–1.402, P = 0.008 and OR = 2.268, 95% CI = 1.530–3.362, P = 0.001, respectively). Further reporter gene expression suggested that variant -842C-667C and -842G-667T were associated with an enhanced transcriptional activity. In conclusion, our findings suggest that -842G > C and -667C > T in PIN1 promoter are associated with NPC risk; as well as the promoter activity is mediated by functional PIN1 variants.
Female Genomics: Infertility and Overall Health
Authors: Joshi Nikhil , Chan Jessica 
Published: June 2017

AbstractFemale infertility is a complex disease linked to multiple etiologies including genetic factors. Owing to the multifactorial nature of infertility, it is often difficult to identify single causative genes. Despite this challenge, investigations into the genetic causes of infertility have been performed to shed light on the etiology and for the possibility of developing personalized medical approaches to therapy. Multiple techniques have been utilized to better characterize the genetic origins of this disease, including genome-wide association studies. We present here a review of the genetic causes of female infertility, detailing some of the more recent findings in the genetics of polycystic ovary syndrome, endometriosis, primary ovarian insufficiency, hypothalamic amenorrhea, leiomyomas, and Mullerian anomalies.
How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility
Authors: Nagirnaja Liina , Vigh-Conrad Katinka , Conrad Donald 
Published: June 2017

AbstractStudying conditions that are comorbid with infertility can provide a picture of the overall health of a patient population that is younger than the typical cases of age-related diseases that preoccupy our health care system. If strong predictive relationships could be established between infertility and life-threatening disease, interventions can be established early in life for at-risk individuals. Here, we discuss how genomic tools can be used to identify diseases and traits that are likely to be comorbid with male infertility. We divide these approaches broadly into two categories: direct and indirect. Direct approaches require knowledge of the specific genetic variants associated with male infertility, while indirect approaches can work with only gene lists, or even no a priori knowledge of disease–gene architecture. Using existing data from human and mouse studies, we demonstrate that one indirect approach based on gene networks provides support for the recent epidemiological findings that infertility is a risk factor for cancer and cardiovascular disease. Finding comorbidities of male infertility is an important goal for the reproductive medicine community. We outline existing resources that will play a valuable role in this quest, and describe new resources that must be developed for maximum progress.
High Tibial Osteotomy following Biologic Replacement of the Knee
Authors: Stannard James , Stannard James 
Published: June 2017

AbstractBiologic unicondylar replacement with fresh osteoarticular allografts of the femoral condyle and tibial plateau plus a meniscus transplant provides an option for young or active patients with severe articular cartilage loss. The timing of osteotomy procedures to correct malalignment either before, concurrent, or after allograft implantation has become an area of research interest. Concurrent osteotomies and allograft transplantation have become increasingly popular due to the decreased patient morbidity from multiple surgeries that require a period of toe-touch weight bearing (TTWB) postoperatively. We discuss here our techniques for correcting malalignment, which concurrently repair major bipolar knee lesions while transplanting the meniscus. We prefer to perform a simultaneous biologic unicondylar replacement with an osteotomy, if needed. Weight bearing alignment radiographs should be obtained 6 weeks following surgery to confirm the intraoperative findings that were obtained using fluoroscopy and the alignment rod. If malalignment persists and the biologic grafts are overloaded, a staged osteotomy should be performed as soon as possible.
Subgroup Analysis of Patients with Cancer in XALIA: A Noninterventional Study of Rivaroxaban versus Standard Anticoagulation for VTE
Authors: Ageno Walter , Mantovani Lorenzo , Haas Sylvia , Kreutz Reinhold , Monje Danja , Schneider Jonas , van Eickels Martin , Gebel Martin , Turpie Alexander 
Published: June 2017

Background The noninterventional XALIA study compared rivaroxaban with standard anticoagulation for deep vein thrombosis treatment. This substudy describes the demographics, clinical characteristics, and outcomes of the patients with cancer.
Methods Therapy type, dose, and duration were at the physician's discretion. The cohorts identified were rivaroxaban (rivaroxaban alone or after heparin or fondaparinux for ≤48 hours); early switchers (rivaroxaban after heparin or fondaparinux for >48 hours to 14 days and/or a vitamin K antagonist [VKA] for 1–14 days); standard anticoagulation (heparin or fondaparinux and a VKA); low-molecular-weight heparin (LMWH) alone; and miscellaneous (other heparins, fondaparinux alone, VKA alone). Primary outcomes were major bleeding, recurrent venous thromboembolism, and all-cause mortality.
Results In XALIA, 587 patients (11.4% of the XALIA cohort) were with cancer: 146 (24.9%) rivaroxaban, 30 (5.1%) early switchers, 141 (24.0%) standard anticoagulation, 223 (38.0%) LMWH, and 47 (8.0%) miscellaneous. Patients with gastrointestinal or lung cancer more commonly received LMWH than rivaroxaban; the opposite occurred in patients with breast or genitourinary cancer. Rates of primary outcome in the rivaroxaban group were as follows: major bleeding, 1.4% (n = 2); recurrent venous thromboembolism, 3.4% (n = 5); and all-cause mortality, 4.8% (n = 7).
Conclusion In XALIA, physicians treated cancer-associated thrombosis with various anticoagulant regimens, most commonly LMWH. In addition, the choice of anticoagulant varied with cancer type. In rivaroxaban-treated patients, rates for the primary outcomes were low, suggesting that patients administered rivaroxaban were a good prognosis group.
Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study
Authors: Hein A. , Rack B. , Li L. , Ekici A. , Reis A. , Lux M. , Cunningham J. , Rübner M. , Fridley B. , Schneeweiss A. , Tesch H. , Lichtenegger W. , Fehm T. , Heinrich G. , Rezai M. , Beckmann M , Janni W. , Weinshilboum R. , Wang L. , Fasching P. , Häberle L. 
Published: June 2017

AbstractLarge-scale genotyping studies have identified over 70 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. However, knowledge regarding genetic risk factors associated with the prognosis is limited. The aim of this study was therefore to investigate the prognostic effect of nine known breast cancer risk SNPs. BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277(CASP8), rs2981582(FGFR2), rs13281615(8q24), rs3817198(LSP1), rs889312(MAP3K1), rs3803662(TOX3), rs13387042(2q35), rs4973768(SLC4A7), rs6504950(COX11). Cox proportional hazards models were used to test the SNPsʼ association with overall survival (OS) and progression-free survival (PFS). Additional analyses were carried out for molecular subgroups. rs3817198 in LSP1 (lymphocyte-specific protein 1) was the only SNP that significantly influenced OS (p = 0.01) and PFS (p < 0.01) in the likelihood ratio test comparing the genetic survival model with the clinical survival model. In the molecular subgroups, triple-negative patients with two minor alleles in rs3817198 had a much better prognosis relative to OS (adjusted HR 0.03; 95% CI 0.002 – 0.279) and PFS (HR 0.09; 95% CI 0.02 – 0.36) than patients with the common alleles. The same effect on PFS was shown for patients with luminal A tumors (HR 0.19; 95% CI 0.05 – 0.84), whereas patients with luminal B tumors had a poorer PFS with two minor alleles (HR 2.13; 95% CI 1.02 – 4.40). The variant in rs3817198 has a prognostic effect particularly in the subgroup of patients with triple-negative BC, suggesting a possible link with immunomodulation and BC.
Entwicklung einer kraftausdauerorientierten Testbatterie als Entscheidungshilfe für eine leistungsorientierte Gruppenzuweisung in der rehabilitativen Sporttherapie bei muskuloskeletalen Krankheiten
Authors: Golla André , Mattukat Kerstin , Ehlebracht-König Inge , Kluge Karin , Pfeifer Klaus , Mau Wilfried 
Published: June 2017

Zusammenfassung
Hintergrund Vor dem Hintergrund des breiten Leistungsniveaus von Patienten in der medizinischen Rehabilitation und dem trainingswissenschaftlichen Anspruch einer optimalen Belastungsdosierung fehlt es bislang an praxistauglichen Entscheidungshilfen für eine leistungsorientierte Ausgestaltung von sport- und bewegungstherapeutischen Gruppenangeboten.
Methoden Daher wurde eine kraftausdauerorientierte, diagnoseübergreifende Testbatterie für die Unterteilung von Rehabilitanden in 2 unterschiedliche Leistungsgruppen entwickelt (moderat vs. intensiv belastbar). An einer Stichprobe von 163 Rehabilitanden mit verschiedenen muskuloskeletalen Krankheiten (Rückenschmerzen, chronischen Polyarthritiden bzw. Spondyloarthritiden) wurden die Zuteilungsergebnisse der Testbatterie mit dem Standardverfahren, d. h. einer Unterteilung durch ärztliche Einschätzung, anhand von funktionsbezogenen Parametern verglichen.
Ergebnisse Jeder dritte Rehabilitand wurde durch die beiden Beurteilungsvarianten (Arzt vs. Testbatterie) unterschiedlich bewertet. Bei der testbasierten Unterteilung traten deutlich größere Unterschiede zwischen den moderat und intensiv belastbaren Rehabilitanden bzgl. der gemessenen und der fragebogenbasierten Funktionsparameter auf als bei der Unterteilung auf Basis der ärztlichen Begutachtung.
Schlussfolgerung Die durchgeführte Analyse liefert Hinweise auf eine stärkere Differenzierung des trainingsbezogenen Leistungsvermögens durch eine testbasierte Einschätzung im Vergleich zu einer ärztlichen Beurteilung im Rahmen der Anamnese und Aufnahmeuntersuchung. Für spezifische Therapieentscheidungen könnten die Ergebnisse solcher Entscheidungshilfen wertvolle Informationen liefern. Insbesondere für die klinikinterne Entwicklung von sport- und bewegungstherapeutischen Entscheidungshilfen kann die beschriebene Testentwicklung eine Orientierung darstellen.
Isokinetische Kraftmessung in Abhängigkeit von der attestierten Arbeitsunfähigkeit orthopädischer Rehabilitanden mit degenerativen Kniegelenkserkrankungen
Authors: Lohss Regine , Geissler Norbert , Thiel Michael , Göhle Michael , Egen Christoph , Gutenbrunner Christoph 
Published: June 2017

Zusammenfassung
Fragestellung Untersucht wurde die Veränderung des maximalen isokinetischen Drehmoments am Kniegelenk im Rehabilitationsverlauf in Abhängigkeit von der ärztlich attestierten Arbeitsunfähigkeit. Weiterhin wurde analysiert, ob es einen Einfluss der Arbeitsunfähigkeit auf die während der isokinetischen Testung ermittelten Variationskoeffizienten gibt.
Material und Methoden Für die Pilotstudie wurden männliche Rehabilitanden zwischen 18 und 65 Jahren mit chronisch degenerativen Kniegelenkserkrankungen in einem orthopädischen Rehabilitationszentrum rekrutiert. Die Patienten wurden bei Rehabilitationsaufnahme gemäß der im Rahmen der kassenärztlichen Versorgung festgestellten Arbeitsunfähigkeit in arbeitsfähige und arbeitsunfähige Patienten aufgeteilt. Die Messungen des maximalen isokinetischen Drehmoments erfolgten mittels des Geräts BIODEX am betroffenen Kniegelenk zu Beginn und Ende der Rehabilitation in Flexion und Extension bei Winkelgeschwindigkeiten von 90°/s und 150°/s.
Ergebnisse Eingeschlossen wurden 60 Patienten mit einem durchschnittlichen Alter von 49,6 Jahren. 43,3% der Patienten waren zu Rehabilitationsbeginn arbeitsunfähig. Die arbeitsfähigen Rehabilitanden verbesserten sich signifikant hinsichtlich des maximalen Drehmoments in beiden Winkelgeschwindigkeiten und Bewegungsrichtungen. Die arbeitsunfähigen Rehabilitanden verbesserten sich signifikant in Bezug auf die Flexionsbewegung beider Winkelgeschwindigkeiten. Zwischen den arbeitsfähigen und arbeitsunfähigen Rehabilitanden gab es keinen signifikanten Unterschied hinsichtlich der Kraftveränderung. Die im Rahmen der kassenärztlichen Versorgung festgestellte Arbeitsunfähigkeit hatte unter Berücksichtigung weiterer Kontrollvariablen keinen signifikanten Einfluss auf die Veränderung des maximalen Drehmoments und der Variationskoeffizienten.
Diskussion und Schlussfolgerung Im Rahmen der orthopädischen Rehabilitation verbesserten sich sowohl arbeitsfähige als auch arbeitsunfähige Rehabilitanden hinsichtlich des maximalen isokinetischen Drehmoments am betroffenen Kniegelenk, wobei die Verbesserung der arbeitsunfähigen Patienten in die Extension nicht signifikant war. Sowohl die attestierte Arbeitsunfähigkeit als auch die Variationskoeffizienten hatten keinen signifikanten Einfluss auf die isokinetische Kraftmessung. Weitere Analysen sollten sich insbesondere auf den Zusammenhang zwischen der Arbeitsunfähigkeitsdauer und der Ergebnisse funktioneller Assessments beziehen.
Endoprothetischer Gelenkersatz und Sport
Authors: Oehler Nicola , Schmidt T. , Niemeier Andreas 
Published: June 2017

Zusammenfassung
Hintergrund Es finden sich zunehmend Patienten mit sportlichem Funktionsanspruch, für die nicht nur die Frage nach grundsätzlicher Sportfähigkeit nach Endoprothesenimplantation, sondern auch nach dem erreichbaren Sportniveau im Sinne der Rückkehr zu präoperativer sportlicher Aktivität bedeutsam ist. Dieser Artikel soll einen Überblick über neuere Daten zu folgenden Fragen hinsichtlich Hüft-, Knie und Schulterendoprothetik geben: (1) Welche Auswirkungen hat sportliche Aktivität auf Endoprothesen? (2) Welches Sportniveau ist nach endoprothetischer Versorgung erreichbar? (3) Welche Empfehlungen können zu sportlicher Aktivität mit Endoprothese gegeben werden?
Methoden PubMed basierte Literaturrecherche. Narrativer Review mit Fokus auf aktuellen Daten aus den Jahren 2010–2016.
Ergebnisse Die allgemein bekannte Empfehlung zu Low-impact-Sportarten mit moderater Intensität wie Wandern, Schwimmen, Radfahren, Golfbehält ihre Gültigkeit für sämtliche Prothesentypen an allen Gelenken. Hier ist unstrittig, dass die positiven die negativen Effekte überwiegen. Nach Implantation von HTEP und KTEP findet die Mehrheit der prä-OP aktiven Patienten nach 3–6 Monaten wieder zu sportlicher Aktivität zurück, wenn auch mit klarer Tendenz zu niedrigerer Intensität und einer Verschiebung von high impact hin zu low impact. Wichtige offene Fragen beziehen sich auf die Effekte von mit hoher Intensität betriebenen Low-impact-Sportarten, auf High-impact-Sportarten, auf sportartspezifische Wirkungen sowie auf prothesentypspezifische Möglichkeiten. Hier sind die Grenzen zwischen positiven und negativen Effekten von sportlicher Belastung unterschiedlicher Intensität erst beginnend untersucht. Neue Daten weisen darauf hin, dass allgemein eine höhere sportliche Leistungsfähigkeit erreichbar ist, als traditionell empfohlen wird. Frühe Ergebnisse unikondylärer Knieprothesen übertreffen die bikondylärer Prothesen deutlich. Schulterendoprothesen zeigen entgegengesetzt zu Expertenempfehlungen die höchsten postoperativen Aktivitätslevel nach inverser und anatomischer TEP und die geringste Sportaktivität nach Hemiprothesen.
Schlussfolgerung Bisherige Expertenempfehlungen und faktische Möglichkeiten des Sportniveaus nach Endoprothesenimplantation divergieren z. T. erheblich. Es bleibt durch zukünftige Studien zu definieren, welches Sportniveau unter Verwendung moderner abriebarmer Gleitpaarungen und Prothesendesigns in welcher Sportart mit welcher Prothese ein positives Nutzen-Risiko-Verhältnis darstellt.