bluuebunny/crossref_metadata_2025_split huggingface dataset:
Of the multiple mechanisms leading to type 1 diabetes, T cell receptor revision may play a prominent role (is type 1 diabetes more than a single disease?)
Authors: Wagner D H 
Published: June 2016

SummaryA single determinant factor for autoimmunity does not exist; disease development probably involves contributions from genetics, the environment and immune dysfunction. Type 1 diabetes is no exception. Genomewide-associated studies (GWAS) analysis in T1D has proved disappointing in revealing contributors to disease prediction; the only reliable marker has been human leucocyte antigen (HLA). Specific HLAs include DR3/DR4/DQ2/DQ8, for example. Because HLA molecules present antigen to T cells, it is reasonable that certain HLA molecules have a higher affinity to present self-antigen. Recent studies have shown that additional polymorphisms in HLA that are restricted to autoimmune conditions are further contributory. A caveat is that not all individuals with the appropriate ‘pro-autoimmune’ HLA develop an autoimmune disease. Another crucial component is autoaggressive T cells. Finding a biomarker to discriminate autoaggressive T cells has been elusive. However, a subset of CD4 helper cells that express the CD40 receptor have been described as becoming pathogenic. An interesting function of CD40 on T cells is to induce the recombination-activating gene (RAG)1/RAG2 T cell receptor recombination machinery. This observation is contrary to immunology paradigms that changes in TCR molecules cannot take place outside the thymic microenvironment. Alteration in TCR, called TCR revision, not only occurs, but may help to account for the development of autoaggressive T cells. Another interesting facet is that type 1 diabetes (T1D) may be more than a single disease; that is, multiple cellular components contribute uniquely, but result ultimately in the same clinical outcome, T1D. This review considers the process of T cell maturation and how that could favor auto-aggressive T cell development in T1D. The potential contribution of TCR revision to autoimmunity is also considered.
The role of carers in supporting the progress of care leavers in the world of work
Authors: Gilligan Robbie , Arnau‐Sabatés Laura 
Published: June 2016

AbstractThe aim of this component of a preliminary cross‐national study (Ireland and Catalonia) of care leavers' experience in the world of work is to explore how carers may influence the entry of young people in care into the world of work and how they may also influence the young people's progress in that world. A total of 22 care leavers, aged 23–33 years, were recruited on the basis of their having substantial employment experience since leaving care. Evidence from the interviews reveals the importance of the role of carers in the work‐related progression of the young care leavers, especially in relation to gaining work experience while they were still in care. The qualitative analysis shows that carers were influential in promoting (and sometimes hindering) progress in work and education. Carers were often reported to play an important role in opening up opportunities, giving support (modelling skill development, giving practical help, etc.), being role models and cultivating the young person's agency. On the basis of these findings, we propose an initial conceptualization of carer roles in positive work support.
Home on a care order: who the children are and what the care order is for
Authors: Fargas‐Malet Montserrat , McSherry Dominic , Pinkerton John , Kelly Greg 
Published: June 2016

AbstractCompared to children in other placements, there is much less known about the characteristics and needs of children in the UK who are returned to their birth parents with a care order still in place. That is in spite of evidence to suggest they face more difficulties than young people in other placements. Based on a 2009 census of looked after children in Northern Ireland, just under 10% (n = 193) were found to be living at home under a care order. Case file reviews were conducted for a quarter of these young people (n = 47) to generate descriptive statistics showing a very diverse population. That was followed by semi‐structured interviews with members of eight families (ten children and eight birth parent/s), providing transcripts for thematic analysis. Nearly half of the young people whose case files were reviewed had experienced at least one home placement breakdown, but nearly two thirds had a stable last home placement. Care orders appeared to serve two functions: to give legal authority to social services for the monitoring of placements, and to facilitate family access to family support services. Replacing some care orders with supervision orders might better align legal status and actual function.
Comparable responses of osteoblast lineage cells to microstructured hydrophilic titanium–zirconium and microstructured hydrophilic titanium
Authors: Lotz Ethan M. , Olivares‐Navarrete Rene , Hyzy Sharon L. , Berner Simon , Schwartz Zvi , Boyan Barbara D. 
Published: June 2016

AbstractObjectivesAlthough titanium (Ti) is commonly used for dental implants, Ti alloy materials are being developed to improve their physical material properties. Studies indicate that osteoblast differentiation and maturation of human mesenchymal stem cells (MSCs) and normal human osteoblasts (NHOsts) respond to microstructured Ti and titanium–aluminum–vanadium (Ti6Al4V) surfaces in a similar manner. The goal of this study was to determine whether this is the case for osteoblast lineage cells grown on microstructured TiZr surfaces and whether their response is affected by surface nanotexture and hydrophilicity.Materials and MethodsGrade 4 Ti and TiZr (13–17% Zr) disks were modified by large grit sand‐blasting and acid‐etching with storage in saline solution, resulting in a complex microstructured and hydrophilic surface corresponding to the commercially available implants SLActive® and Roxolid® SLActive® (Institut Straumann AG, Basel, Switzerland). The subsequent Ti modSLA and TiZr modSLA surfaces were characterized and osteogenic markers were measured.ResultsEvaluation of physical parameters revealed that the fabrication method was capable of inducing a microstructured and hydrophilic surface on both the Ti and TiZr disks. Overall, the surfaces were similar, but differences in nanostructure morphology/density and surface chemistry were detected. On Ti modSLA and TiZr modSLA, osteoblastic differentiation and maturation markers were enhanced in both MSCs and NHOsts, while inflammatory markers decreased compared with TCPS.ConclusionsThese results indicate a similar positive cell response of MSCs and NHOsts when cultured on Ti modSLA and TiZr modSLA. Both surfaces were hydrophilic, indicating the importance of this property to osteoblast lineage cells.
Identification of oral bacteria on titanium implant surfaces by 16S rDNA sequencing
Authors: de Melo Fabiana , do Nascimento Cássio , Souza Diogo Onofre , de Albuquerque Rubens F. 
Published: June 2016

AbstractObjectiveTo characterize the profile of microbial communities colonizing titanium implants with different surface treatments after exposure to the oral environment at the genus or higher taxonomic level.Material and methodsSixteen titanium disks, machined or sandblasted large‐grit and acid‐etched (SLA), were mounted on removable intraoral splints worn by four patients. After 24 h of intraoral exposure, biofilm samples were collected from disks and supra/subgingival teeth areas. The 16S rDNA genes from each sample were amplified, sequenced with the Miseq Illumina instrument and analyzed.ResultsA total of 29 genera and seven more inclusive taxa, representing the phyla Firmicutes, Proteobacteria, Fusobacteria, Bacteroidetes, Actinobacteria and candidate division TM7 were identified in both titanium surfaces and teeth. No differences were found in relation to the operational taxonomic units (OTUs) and microbial diversity, assessed by Chao 1 and Shannon indices, when comparing SLA and machined titanium surfaces.ConclusionsMachined and SLA surfaces are colonized by similar numbers of prokaryotic OTUs after 24 h of exposure to the oral environment. Higher complexity of the titanium surface topography in the initial phase of biofilm maturation does not seem to significantly influence the colonizing microbiota.
Evaluation of non‐coding variation in GLUT1 deficiency
Authors: Liu Yu‐Chi , Lee Jia Wei Audrey , Bellows Susannah T , Damiano John A , Mullen Saul A , Berkovic Samuel F , Bahlo Melanie , Scheffer Ingrid E , Hildebrand Michael S ,   Clinical Group
Published: June 2016

AimLoss‐of‐function mutations in SLC2A1, encoding glucose transporter‐1 (GLUT‐1), lead to dysfunction of glucose transport across the blood–brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebrospinal fluid [CSF] glucose <2.2mmol/L) do not have mutations. We hypothesized that GLUT1 deficiency could be due to non‐coding SLC2A1 variants.MethodWe performed whole exome sequencing of one proband with a GLUT1 phenotype and hypoglycorrhachia negative for SLC2A1 sequencing and copy number variants. We studied a further 55 patients with different epilepsies and low CSF glucose who did not have exonic mutations or copy number variants. We sequenced non‐coding promoter and intronic regions. We performed mRNA studies for the recurrent intronic variant.ResultsThe proband had a de novo splice site mutation five base pairs from the intron–exon boundary. Three of 55 patients had deep intronic SLC2A1 variants, including a recurrent variant in two. The recurrent variant produced less SLC2A1 mRNA transcript.InterpretationFasting CSF glucose levels show an age‐dependent correlation, which makes the definition of hypoglycorrhachia challenging. Low CSF glucose levels may be associated with pathogenic SLC2A1 mutations including deep intronic SLC2A1 variants. Extending genetic screening to non‐coding regions will enable diagnosis of more patients with GLUT1 deficiency, allowing implementation of the ketogenic diet to improve outcomes.
Thrombotic risk correlates with mutational status in true essential thrombocythemia
Authors: Bertozzi Irene , Peroni Edoardo , Coltro Giacomo , Bogoni Giulia , Cosi Elisabetta , Santarossa Claudia , Fabris Fabrizio , Randi Maria L. 
Published: June 2016

AbstractBackgroundTrue essential thrombocythemia (ET) may carry one of the known driver mutations (JAK2, MPL and CALR) or none of them [in triple‐negative (3NEG) cases]. The patients' mutational status seems to delineate the clinical manifestations of ET.Materials and methodsWe report the data of 183 patients diagnosed with ET strictly according to the WHO 2008 criteria and with a full molecular diagnosis, including the following: 114 patients (62·3%) with JAK2V617F; 25 (13·7%) with CALR type 1 and 19 (10·4%) with CALR type 2; 3 (1·6%) with MPL; 22 (12%) who were 3NEG. Thrombotic risk was assessed by means of the IPSET‐thrombosis score (IPSET‐T).ResultsCALR and 3NEG patients had lower haemoglobin levels and leucocyte count than JAK2 patients. CALR patients, and those with type 2 in particular, had higher mean platelet counts and had extreme thrombocytosis more often than any of the other groups. Based on their IPSET‐T stratification, 3NEG‐ and CALR‐mutated patients belonged more frequently to the low‐risk group and had a significant more favourable thrombosis‐free survival rate than those with JAK2 mutation.ConclusionThese findings indicate that the three different molecular markers have a significant impact on the clinical course of true ET, giving rise to different phenotypes of the same disease.
Cold snaps, heatwaves, and arthropod growth
Authors: ROITBERG BERNARD D. , MANGEL MARC 
Published: June 2016

1. Arthropod performance is a non‐linear function of temperature, and thus global climate change may impact arthropods in a variety of non‐obvious ways.2. In this paper, the well‐known thermal performance curve is reviewed briefly and attention is drawn to the importance of variance in temperature, particularly major weather events such as cold snaps and heatwaves.3. A model is developed that considers the asymmetry between cold and heat stress and, particularly, the different timescales of recovery from these stressors: near‐instantaneous for cold and lagged effects from heat.4. Growth rate is evaluated as a function of weather‐event intensity and length. Including the timescale asymmetry exacerbates both heat stress and, to a much lesser degree, cold stress.
The first Team Haemophilia Education meeting, 2015, Amsterdam, The Netherlands
Authors: Berntorp Erik , Hart Daniel , Mancuso Maria Elisa , d'Oiron Roseline , Perry David , O'Mahony Brian , Kaczmarek Radoslaw , Crato Miguel , Pasi John , Miners Alec , Carlsson Katarina Steen , Kitchen Steve , Boehlen Françoise , Giangrande Paul , Cebura Elizabete , Uitslager Nanda , Osooli Mehdi , Janeckova Daniela , Haldon Rosie , Rivolta Gianna Franca 
Published: June 2016

AbstractHaemophilia remains a complex disorder to diagnose and manage, requiring close cooperation between multidisciplinary healthcare professionals. There are still many unmet challenges in haemophilia care. The first Team Haemophilia Education (THE) meeting, held on 7–8 May 2015 in Amsterdam, The Netherlands, aimed to promote the optimal care of haemophilia patients through education of the multidisciplinary treatment team. This was achieved by reviewing the latest developments in haemophilia management, considering how these can be implemented in the clinic to improve patient care and providing a platform for networking and debate for all haemophilia treatment team members. Haemophilia treatment centres from several countries were asked to complete a premeeting online questionnaire to establish the biggest challenges that they face when managing patients. The concerns expressed were used to develop the agenda, which comprised a combination of formal presentations, case studies and informal workshops covering such topics as pharmacokinetics, laboratory assays and tailoring of treatment to individual patients. This report is a summary of the key developments in haemophilia care presented by various investigators and healthcare professionals at THE meeting 2015.
Mass emergence of a specialist sawfly species on unpalatable herbs under severe feeding pressure by sika deer
Authors: Nakahama Naoyuki , Yamasaki Michimasa , Takayanagi Atsushi 
Published: June 2016

AbstractIn recent years, the increase in sika deer populations has had a significant impact on forest ecosystems. Many studies have reported that this increase has led to the dominance of plants unpalatable to the deer; however, few studies have investigated the effects of this dominance on the specialist sawfly species that feed on the unpalatable plants. We observed the mass emergence of Aglaostigma amoorensis (Hymenoptera: Tenthredinidae), a rare specialist sawfly of the false helleborine Veratrum plants unpalatable to sika deer, in areas under severe feeding pressure by sika deer. An exponential increase in the number of emergent A. amoorensis adults was observed to occur with an increase in Veratrum album patch sizes. In addition, the increase in the A. amoorensis density had a negative effect on reproductive success of V. album. Our findings suggest that the relative abundance of specialist sawfly to the host‐plant abundance has changed for successive years after sika deer irruption.
Creating “Bright, Positive” Selves: Discourses of Self and Emotion in a Japanese Public‐Speaking Course
Authors: Dunn Cynthia Dickel 
Published: June 2016

AbstractThis article examines emotion pedagogy and technologies of the self in two Japanese settings: public‐speaking classes and business‐etiquette training for new employees. Data were gathered through participant‐observation and selective audio recording in both settings. The emotion pedagogy found in these classes aims at polishing the public presentation of self as akarui “bright” and sekkyokuteki “active.” The training focuses less on the interpretation of inner feelings or competence in a psychologized emotion register than on inculcating habits of thought and behavior which allow clients to function affectively and effectively within their social contexts. The study demonstrates how the late‐modern reflexive project of self‐fashioning can be embedded in institutional contexts and carried out through metapragmatically explicit emotion pedagogy focusing on the public presentation of self.
Plant invasion is associated with higher plant–soil nutrient concentrations in nutrient‐poor environments
Authors: Sardans Jordi , Bartrons Mireia , Margalef Olga , Gargallo‐Garriga Albert , Janssens Ivan A. , Ciais Phillipe , Obersteiner Michael , Sigurdsson Bjarni D. , Chen Han Y. H. , Peñuelas Josep 
Published: June 2016

AbstractPlant invasion is an emerging driver of global change worldwide. We aimed to disentangle its impacts on plant–soil nutrient concentrations. We conducted a meta‐analysis of 215 peer‐reviewed articles and 1233 observations. Invasive plant species had globally higher N and P concentrations in photosynthetic tissues but not in foliar litter, in comparison with their native competitors. Invasive plants were also associated with higher soil C and N stocks and N, P, and K availabilities. The differences in N and P concentrations in photosynthetic tissues and in soil total C and N, soil N, P, and K availabilities between invasive and native species decreased when the environment was richer in nutrient resources. The results thus suggested higher nutrient resorption efficiencies in invasive than in native species in nutrient‐poor environments. There were differences in soil total N concentrations but not in total P concentrations, indicating that the differences associated to invasive plants were related with biological processes, not with geochemical processes. The results suggest that invasiveness is not only a driver of changes in ecosystem species composition but that it is also associated with significant changes in plant–soil elemental composition and stoichiometry.
Validity of cluster headache diagnoses in an electronic health record data repository
Authors: Rizzoli Paul , Loder Elizabeth , Joshi Shivang 
Published: June 2016

BackgroundCluster headache (CH) is uncommon, so electronic searches of large medical record databases provide an important opportunity to identify a sufficient number of patients for research, patient registries, or quality improvement work. However, the accuracy of CH diagnoses recorded in electronic health record (EHR) databases is unknown. The Research Patient Data Registry (RPDR) warehouses information from EHR of two academic medical centers in Boston. We assessed the validity of CH diagnoses in the RPDR as well as the sensitivity of International Classification of Headache Disorders (ICHD) diagnostic criteria in relation to the gold standard of expert clinician diagnosis of CH.MethodsIn 2013, we queried RPDR to identify all patients diagnosed with CH diagnosed by headache specialists from 2002 to 2012. We sought to determine the positive predictive value (PPV) of an EHR diagnosis of CH relative to a headache expert's clinical impression as the gold standard. We also calculated the sensitivity of ICHD‐2 CH criteria compared with the gold standard of expert‐diagnosed CH cases.ResultsRPDR queries identified 170 patients with a diagnosis of CH. Two researchers carried out a detailed chart review searching for information to support or refute this diagnosis. In 58 cases, the diagnosis of CH was determined to be inaccurate due to data entry errors. The PPV of an RPDR diagnosis of CH was 63% (95% CI 54‐71%) and the sensitivity of ICHD‐2 criteria compared with the gold standard of expert diagnosis was 77% (95% CI 69‐82%).ConclusionsThe PPV of EHR diagnoses of CH is modest. Data entry errors are common, and only about three‐fourths of CH cases diagnosed by expert clinicians meet ICHD criteria for CH. Thus, EHR searches for patients with CH frequently will result in false positives. This has implications for activities such as research, quality improvement efforts, or disease registries that rely on EHR searches to identify patients. Further work is needed to develop high quality phenotypic algorithms so that the research potential of EHRs can be realized.
Autonomic Nervous System and the Liver
Authors: Mizuno Kei , Ueno Yoshiyuki 
Published: June 2016

AbstractThe liver is innervated by both the sympathetic and the parasympathetic nerve systems. These nerves are derived from the splanchnic and vagal nerves that surround the portal vein, hepatic artery, and bile duct. The afferent fiber delivers information regarding osmolality, glucose level, and lipid level in the portal vein to the central nervous system (CNS). In contrast, the efferent fiber is crucial in the regulation of metabolism, blood flow, and bile secretion. Furthermore, liver innervation has been associated with hepatic fibrosis, regeneration, and circadian rhythm. Knowledge of these mechanisms can be applied for potential liver disease treatment.
USP6 gene rearrangement in nodular fasciitis and histological mimics
Authors: Shin Christina , Low Irene , Ng Daniel , Oei Paul , Miles Carina , Symmans Pennie 
Published: June 2016

AimsNodular fasciitis is known to be a benign mimic of sarcoma, both clinically and histologically. Accurate diagnosis, particularly on small biopsies, remains a challenge, as the morphology can be varied and the immunophenotype is essentially non‐specific. Recently, rearrangement of the ubiquitin‐specific protease 6 (USP6) gene has been reported as a recurrent and specific finding in nodular fasciitis. The aim of this this study was to evaluate the diagnostic utility of USP6 fluorescence in‐situ hybridization (FISH) analysis in a subset of spindle‐cell proliferations in which nodular fasciitis enters into the differential diagnosis.Methods and resultsA database search was performed at the Middlemore Hospital Histopathology Department. All in‐house cases diagnosed between 2002 and March 2014 in which nodular fasciitis was considered as a differential diagnosis were retrospectively identified. Twenty cases were retrieved, reviewed and categorized as ‘definite’, ‘possible’ or ‘definitely not’ nodular fasciitis by consensus morphological opinion of three experienced pathologists. FISH analysis for USP6 rearrangement was performed in each case, with a commercially available break‐apart probe. Of seven cases that were morphologically categorized as ‘definite’ nodular fasciitis, six were FISH‐positive and one was FISH‐negative. Of four cases categorized as ‘possible’ nodular fasciitis, one was FISH‐positive and three were FISH‐negative. Nine cases categorized as ‘definitely not’ nodular fasciitis were all FISH‐negative. In the morphologically definitive cases, FISH analysis for USP6 had a sensitivity of 86% and specificity of 100% for a diagnosis of nodular fasciitis. The positive predictive value was 100%, and the negative predictive value 90%.ConclusionsUSP6 FISH is a useful ancillary test in cases where nodular fasciitis is a potential diagnostic consideration.
The Elusive Predictive Ability of Global Inflation
Authors: Medel Carlos A. , Pedersen Michael , Pincheira Pablo M. 
Published: June 2016

AbstractIn this paper we analyse the utility of international measures of inflation in predicting local ones. To that end, we consider a set of 31 OECD economies for which monthly inflation data are available. Three main conclusions emerge. First, there is an important share of countries for which relatively robust evidence of predictability is found for both core and headline inflation. Second, the share of countries for which there is evidence of robust predictability is about the same for core and headline inflation, although gains in root‐mean‐squared prediction error are higher for headline inflation. Third, while the evidence indicates that an international inflation factor may be a useful predictor for several countries, it also indicates that, for many countries as well, predictability is either questionable, undetectable, non‐robust or simply non‐existent.