bluuebunny/crossref_metadata_2025 huggingface dataset:
Small steps towards a comprehensive approach after Lisbon
Authors: Sellier Elodie
Published: April 2018

This article examines the changes brought about by the Lisbon Treaty (LT) in the overall institutional architecture of the European Union’s Common Foreign and Security Policy (CFSP), alongside their impact on the operation of the internal–external nexus in counterterrorism (CT) policies. It argues that the inclusion of CFSP actors in the making and implementation process of CT policies eased the legal, institutional and policy boundaries between the CFSP and the field of Justice and Home Affairs (JHA). This is despite the specific status granted to the CFSP in the Treaties, the former remaining subject to intergovernmental procedures and unanimity in decision-making, even after the strides towards the ‘communautarization’ of policies achieved by the LT, in Police and Judicial Cooperation in Criminal Matters in particular. Central to the analysis is the interplay and division of competences between ‘new’ CFSP actors endowed with a coherence mandate, such as the European External Action Service and the upgraded office of High Representative, and ‘old’, pre-Lisbon, CT actors, JHA structures and member states in particular. This article finds that the involvement of the CFSP and more particularly its defence component, that is, the Common Defence and Security Policy, to realize CT objectives ‘affected’ the very content of foreign and security policies and heralded a process of ‘judiciarization’ of CSDP missions deployed in third countries resulting from the integration of criminal justice and law components in their mandate. The article concludes that the ensuing blurring of frontiers between the realms of CSDP and JHA raises fundamental rights concerns as to the judicial remedies available to individuals suspected or accused of terrorist activities.
The value of fast-acting insulin aspart compared with insulin aspart for patients with diabetes mellitus treated with bolus insulin from a UK health care system perspective
Authors: Leelarathna Lalantha , Ashley Donna , Fidler Carrie , Parekh Witesh
Published: April 2018

Background:

Fast-acting insulin aspart is a new formulation of the rapid-acting insulin analogue insulin aspart and represents an advancement over current rapid-acting insulin analogues in terms of onset of action and postprandial glucose control. The objective of the current analysis was to demonstrate the cost impact of prescribing fast-acting insulin aspart instead of insulin aspart, to highlight the value of fast-acting insulin aspart for the treatment of people with diabetes requiring mealtime insulin.

Methods:

A cost-impact analysis was conducted from the perspective of the UK National Health Service (NHS). The analysis excluded patients’ out-of-pocket expenses, carers’ costs and lost productivity. The time horizon of the analysis was 1 year, and no discounting was therefore applied.

Results:

The displacement of insulin aspart with fast-acting insulin aspart is cost neutral for the UK NHS. Fast-acting insulin aspart is at price parity to insulin aspart in terms of the vial and Penfill® cartridge and is available in the FlexTouch® pen at the same price as the insulin aspart FlexPen® (and thus cheaper than the insulin aspart FlexTouch® pen). Patients using the insulin aspart FlexPen® will be upgraded to the FlexTouch® pen device, which is preferred by patients and healthcare professionals, on switching to fast-acting insulin aspart, at no additional cost.

Conclusions:

Fast-acting insulin aspart offers additional clinical benefit but at no additional cost when compared with insulin aspart, and thus provides value to the UK NHS.
Characteristics and outcomes associated with 30-day readmissions following acute coronary syndrome 2000–2013: the Acute Coronary Syndrome Israeli Survey
Authors: Litovchik Ilia , Pereg David , Shlomo Nir , Vorobeichik Dina , Beigel Roy , Iakobishvili Zaza , Vered Zvi , Goldenberg Ilan , Minha Sa’ar
Published: April 2018

Background:

Readmissions following acute myocardial infarction are associated with poor outcomes and a heavy economic burden. There are few evidence-based data on the characteristics and outcomes of patients readmitted following acute coronary syndrome. We explored the incidence and outcomes of patients readmitted after an acute coronary syndrome in the past decade.

Methods:

The study population comprised all acute coronary syndrome patients who were enrolled and prospectively followed up in the biennial Acute Coronary Syndrome Israeli Survey from 2000 to 2013. Multivariate analysis identified factors independently associated with readmission and long-term mortality.

Results:

There were 13,010 study patients, of whom 556 (4.2%) had an unplanned readmission within 30 days of the index event. Stent thrombosis during the index hospitalisation (odds ratio (OR) 8.43; 95% confidence interval (CI) 4.11–16.07; P<0.001), female sex (OR 1.34; 95% CI 1.1–1.63; P=0.003), older age (>65 years; OR 1.28; 95% CI 1.06–1.55; P=0.011), and lack of dual-antiplatelet therapy (OR 1.52; 95% CI 1.25–1.86; P<0.001) were independently associated with readmission. Readmitted patients were less likely to have been treated with guideline-directed medical therapy during hospitalisation and at discharge, and were less likely to have undergone coronary angiography. A strong trend towards decline in readmission rates following acute coronary syndrome was observed between 2000 and 2013 ( P<0.001). However, the association between readmission and poor long-term outcome was more pronounced among patients readmitted during more recent years (2008–2013).

Conclusions:

Patients readmitted to hospital following acute coronary syndrome comprise an undertreated, high-risk cohort. Our findings indicate that despite a significant decline in readmission rates following acute coronary syndrome over the past decade, readmission within 30 days following acute coronary syndrome still portends a grave outcome.
Investing in college students: the role of the fitness tracker
Authors: Schaben Jodee A. , Furness Stacy
Published: April 2018

Fitness trackers are becoming a popular way to encourage physical activity and impact health behaviors. Although many college students may own and use fitness trackers, they remain a high-risk group in terms of rates of obesity and lack of physical activity. In this study, college students were provided with fitness trackers to self-monitor step count. Pre- and post-measures of body composition, resting heart rate and blood pressure, knowledge of physical activity behaviors and perception of wellness were used to determine the impact of the fitness trackers. The research was completed in two phases: phase one with completely voluntary participation and phase two as a part of a required general education wellness course. Results did not indicate a significant change in step count over 12 weeks nor did they show positive change in body measurements; however, there were indicators of activity benefits. Knowledge and perception of wellness were not positively impacted in the voluntary study; however, when the education component was required, some increases in knowledge and perception of wellness were shown in the general education course. Many lessons were learned in the study that should be considered when planning future research with fitness trackers in the college-age setting.
One-Stage Repair of Tetralogy of Fallot and Pseudoaneurysm of the Ascending Aorta After Central Shunt
Authors: Katewa Ashish , Anand Kanwaljeet , Sahu Balswaroop
Published: April 2018

Pseudoaneurysm of the ascending aorta following a central aortopulmonary shunt is a rare and potentially fatal complication. Loss of pulmonary artery continuity is another complication following an aortopulmonary shunt. We report an unusual combination of these two complications following an aortopulmonary shunt performed in a child with tetralogy of Fallot. This was managed successfully along with intracardiac repair of tetralogy of Fallot incorporating only the left pulmonary artery.
Two Cases of Aortic Root Replacement After Fontan Completion
Authors: Suzuki Kenji , Sakamoto Takahiko , Hibino Narutoshi , Aomi Shigeyuki , Shin’oka Toshiharu , Yamazaki Kenji
Published: April 2018

Aortic root dilatation is a well-known complication in patients with congenital aortic valve malformation, tetralogy of Fallot, or a double outlet right ventricle. We report two rare patients who underwent composite graft replacement of the aortic root with a mechanical valve, the so-called Bentall-type operation, after Fontan completion. The pathological examination on the resected aortic wall revealed mucoid degeneration in tunica media and elastic fiber fragmentation. Our report emphasizes the need for close observation of these patients over a long-term period.
Development and Validation of a Short Version of the Anterior Cruciate Ligament Return to Sport After Injury (ACL-RSI) Scale
Authors: Webster Kate E. , Feller Julian A.
Published: April 2018

Background:

The Anterior Cruciate Ligament Return to Sport After Injury (ACL-RSI) scale was developed to measure an athlete’s psychological readiness to return to sport after anterior cruciate ligament (ACL) injury and reconstruction surgery. The scale is being used with increasing frequency in both research and clinical settings.

Purpose:

To generate and validate a short version of the ACL-RSI scale.

Study Design:

Cohort study (diagnosis); Level of evidence, 2.

Methods:

The ACL-RSI scale was administered to 535 patients who had undergone ACL reconstruction surgery. Reliability (Cronbach alpha) was determined and factor analysis of the full scale was undertaken along with a process of item selection and elimination. A second group of 250 patients participated in a predictive validation analysis. This group completed the ACL-RSI scale at 6 months and reported return-to-sport outcomes 12 months following ACL reconstruction surgery. The predictive validity of both scales (full and short versions) was assessed by use of receiver operating characteristic (ROC) curve statistics.

Results:

The scale was found to have high internal consistency (Cronbach alpha, 0.96), which suggested that item redundancy was present. After an item selection process, the scale was reduced to a 6-item format. Cronbach alpha for the short version was 0.92, and factor analysis confirmed the presence of 1 factor accounting for 71% of the total variance. Scores for the short version were significantly different between patients who had and those who had not returned to sport. Six-month ACL-RSI scores for both the full and short versions had fair to good predictive ability for 12-month return-to-sport outcomes (full version: area under ROC curve, 0.77 [95% CI, 0.7-0.8]; short version: area under ROC curve, 0.75 [95% CI, 0.7-0.8]).

Conclusion:

A 6-item short version of the ACL-RSI scale was developed from a large cohort of patients undergoing ACL reconstruction. The short version appears to be as robust as the full version for discriminating between and predicting return-to-sport outcomes. The short version of the ACL-RSI may be of use in busy clinical settings to help identify athletes who may find return to sport challenging.
Assessing Knowledge Regarding Managing Congestive Health Failure Symptoms: Differences in Patient and Professional Scores
Authors: Berrios-Thomas Saskia , Engel Rafael , McCall Janice , Rosen Daniel
Published: April 2018

Objective:

To assess whether patients with congestive heart failure (CHF) and health coaches agree about patient knowledge of health-enhancing practices related to CHF after ongoing telehealth coaching.

Methods:

Forty patients with CHF and eligible for both Medicare and Medicaid were recruited from a regional managed care organization for this pilot study. Telecoaching sessions via a health insurance portability and accountability act(HIPAA)-compliant tablet-based platform focused on educational information designed to improve patient self-care. Social workers administered the 13-item Member Confidence Measure at baseline and at 30 and 180 days into the intervention. Patients and social workers provided separate ratings.

Results:

As expected at baseline, patient and coach scores differed, with patients reporting higher perceived knowledge scores ( P < .01). Contrary to expectation, patient and coach scores did not converge at 30 and 180 days. Patient scores continued to increase at 30 and 180 days, while coaches’ scores increased at 30 days, but not at 180 days.

Conclusion:

Overall, patients continued to overrate their understanding about CHF. A telecoaching platform provides an opportunity to enhance patient’s knowledge of their chronic disease and for patients to sustain that knowledge over time.

Practice Implications:

Addressing a patient’s misperception of their knowledge to manage a chronic disease is critical for enhancing well-being. Coaches’ scores did increase at 30 days suggesting that telecoaching is effective, but more monitoring may be required to ensure that these gains persist over time.
Bridging the Chasm: Challenges, Opportunities, and Resources for Integrating a Dissemination and Implementation Science Curriculum into Medical Education
Authors: Ginossar Tamar , Heckman Carolyn J , Cragun Deborah , Quintiliani Lisa M , Proctor Enola K , Chambers David A , Skolarus Ted , Brownson Ross C
Published: April 2018

Background:

Physicians are charged with implementing evidence-based medicine, yet few are trained in the science of Dissemination and Implementation (D&I). In view of the potential of evidence-based training in D&I to help close the gap between research and practice, the goal of this review is to examine the importance of D&I training in medical education, describe challenges to implementing such training, and provide strategies and resources for building D&I capacity.

Methods:

We conducted (1) a systematic review to identify US-based D&I training efforts and (2) a critical review of additional literature to inform our evaluation of the challenges and opportunities of integrating D&I training in medical education.

Results:

Out of 269 unique articles reviewed, 11 described US-based D&I training. Although vibrant and diverse training opportunities exist, their capacity is limited, and they are not designed to meet physicians’ needs. Synthesis of relevant literature using a critical review approach identified challenges inherent to changing medical education, as well as challenges related to D&I science. Finally, selected strategies and resources are available for facilitating incorporation of D&I training into medical education and overcoming existing challenges.

Conclusions:

Integrating D&I training in the medical education curriculum, and particularly in residency and fellowship training, holds promise for bridging the chasm between scientific discoveries and improved patient care and outcomes. However, unique challenges should be addressed, including the need for greater evidence.
Shifting shorelines: Land reclamation and economic blackmail in industrial South Chicago
Authors: Taft Chloe E.
Published: April 2018

This article takes an urban political ecological approach to a historical case study to show how corporations shape both material and economic landscapes to make them appear “natural” and stable when they are anything but. In the early twentieth century, Illinois Steel dumped waste into Lake Michigan at its South Chicago plant to surreptitiously expand its landholdings. The company leveraged a legal claim to the land—a claim that it materially produced out of slag—along with threats to move its operations to Indiana as bargaining chips to avoid further community pushback or regulatory intervention. This research modifies the typical chronology of “the runaway factory,” most often associated with the late twentieth century, to show that economic blackmail was instrumental to the process of industrialization itself. I treat the archive of South Chicago’s shifting shoreline as a muddy artifact of multiple and often contradictory social and political claims rather than a record of biophysical reality. By illustrating specific materializations of global capitalism in an unstable landscape, I argue that processes of disinvestment that transformed industrial communities over the course of the twentieth century were not part of a natural evolution but were contested, uneven, and actively pursued.
Complementary and Alternative Medicine: A Cross-Sectional Observational Study in Pediatric Inpatients
Authors: Dhankar Mukesh
Published: April 2018

The aim was to study the prevalence of complementary and alternative medicine use in acutely sick hospitalized children and factors associated with it. This is a cross-sectional, hospital-based study in a tertiary care center of Delhi, India. Children admitted to a pediatric unit during the study period were assessed using a specially designed questionnaire. Out of the total 887 admitted children, 161 (18.1%) were using complementary and alternate medicine in one form or another. Of these, 113 (70.2%) were using complementary and alternate medicine for the current illness directly leading to admission and the remaining 48 (29.8%) had used complementary and alternate medicine in past. The common complementary and alternate medicine use observed in our study was combined ayurveda and spiritual approach (25.5%), ayurveda (24.8%), spiritual (21.7%), homeopathic (13%), and 47.2% of children were using spiritual approach in form of Jhada (tying piece of cloth on arm or leg or keeping a knife by the side of child). The significant factors associated with complementary and alternate medicine use were younger age, female gender, and father being employed. Complementary and alternate medicine is commonly used even in acutely sick children.
MiR-10a-5p targets TFAP2C to promote gemcitabine resistance in pancreatic ductal adenocarcinoma
Authors: Xiong Guangbing , Huang Hua , Feng Mengyu , Yang Gang , Zheng Suli , You Lei , Zheng Lianfang , Hu Ya , Zhang Taiping , Zhao Yupei
Published: April 2018

Background

By regulating target genes, microRNAs play essential roles in carcinogenesis and drug resistance in human pancreatic ductal adenocarcinoma (PDAC). Previous studies have shown that microRNA-10a-5p (miR-10a-5p) is overexpressed in PDAC and acts as an oncogene to promote the metastatic behavior of PDAC cells. However, the role of miR-10a-5p in PDAC chemoresistance remains unclear.

Methods

The effects of miR-10a-5p on biological behaviors were analyzed. MiR-10a-5p and TFAP2C levels in tissues were detected, and the clinical value was evaluated.

Results

We found that miR-10a-5p is up-regulated in gemcitabine-resistant PDAC cells and enhances PDAC cell gemcitabine resistance in vitro and vivo. Meanwhile, we also determined that miR-10a-5p promotes the migratory and invasive ability of PDAC cells. Next, we confirmed that transcription factor activating protein 2 gamma (TFAP2C) is a target of miR-10a-5p, and TFAP2C overexpression resensitizes PDAC cells to gemcitabine, which is initiated by miR-10a-5p. Further studies revealed that TFAP2C also decreased PDAC cell migration and invasion capability. Finally, survival analysis demonstrated that high miR-10a-5p expression levels and low TFAP2C expression levels were both independent adverse prognostic factors in patients with PDAC.

Conclusion

Together, these results indicate that miR-10a-5p/TFAP2C may be new therapeutic target and prognostic marker in PDAC.
Monocular enucleation alters retinal waves in the surviving eye
Authors: Failor Samuel Wilson , Ng Arash , Cheng Hwai-Jong
Published: April 2018

Background

Activity in neurons drives afferent competition that is critical for the refinement of nascent neural circuits. In ferrets, when an eye is lost in early development, surviving retinogeniculate afferents from the spared eye spread across the thalamus in a manner that is dependent on spontaneous retinal activity. However, how this spontaneous activity, also known as retinal waves, might dynamically regulate afferent terminal targeting remains unknown.

Methods

We recorded retinal waves from retinae ex vivo using multi-electrode arrays. Retinae came from ferrets who were binocular or who had one eye surgically removed at birth. Linear mixed effects models were used to investigate the effects of early monocular enucleation on retinal wave activity.

Results

When an eye is removed at birth, spontaneous bursts of action potentials by retinal ganglion cells (RGCs) in the surviving eye are shorter in duration. The shortening of RGC burst duration results in decreased pairwise RGC correlations across the retina and is associated with the retinal wave-dependent spread of retinogeniculate afferents previously reported in enucleates.

Conclusion

Our findings show that removal of the competing eye modulates retinal waves and could underlie the dynamic regulation of competition-based refinement during retinogeniculate development.
Healthcare-associated fungal outbreaks: New and uncommon species, New molecular tools for investigation and prevention
Authors: Bougnoux Marie-Elisabeth , Brun Sophie , Zahar Jean-Ralph
Published: April 2018

Outbreaks of healthcare-associated fungal infections have repeatedly been described over recent years, often caused by new or uncommon species. Candida auris, a recently described multidrug-resistant yeast species, is certainly the most worrisome species having caused several severe healthcare outbreaks of invasive infections, on four continents. Also, large nosocomial outbreaks due to uncommon fungal species such as Exserohilum rostratum and Sarocladium kiliense, were both linked to contamination of medical products, however the source of another outbreak, caused by Saprochaete clavata, remains unresolved. Furthermore, these outbreaks identified new populations under threat in addition to those commonly at risk for invasive fungal infections, such as immunosuppressed and intensive care unit patients. All of these outbreaks have highlighted the usefulness of a high level of awareness, rapid diagnostic methods, and new molecular typing tools such as Whole Genome Sequencing (WGS), prompt investigation and aggressive interventions, including notification of public health agencies.

This review summarizes the epidemiological and clinical data of the majority of healthcare-associated outbreaks reported over the last 6 years caused by uncommon or new fungal pathogens, as well as the contribution of WGS as support to investigate the source of infection and the most frequent control measures used.
The impact of refugee experiences on education: evidence from Burundi
Authors: Fransen Sonja , Vargas-Silva Carlos , Siegel Melissa
Published: April 2018

Previous studies suggest that displacement is one of the channels through which conflict impacts schooling outcomes. However, there is scarce evidence on this impact for those who are displaced internationally (i.e. refugees). We use data from Burundi, a country which experienced large-scale conflict-led emigration and substantial post-war refugee return, to explore differences in schooling outcomes between returnees, defined as individuals who were displaced to a neighbouring country and later returned home, and stayees, defined as individuals who never left the country during the conflict (i.e. those who were never displaced and those who were only displaced internally). Our results suggest that, controlling for pre-war characteristics and cohort effects, returning refugees are more likely to have finished primary school than their contemporaries who never left the country. We also find that an additional year spent as a refugee while of schooling age is associated with a four to six percentage point increase in the likelihood of finishing primary school.

JEL Classification: F22, D74, I25
The white of the 20th century: an explorative survey into Dutch modern art collections
Authors: van Driel B. A. , van den Berg K. J. , Gerretzen J. , Dik J.
Published: April 2018

White pigments were abundantly used in 20th century paintings, and relate to several degradation risks such as titanium white mediated photocatalytic binder degradation or zinc soap formation. Knowledge about the white pigments that were used is essential for risk assessments of 20th century collections. In this study, a representative set of 179 paintings in Dutch modern art collections were analyzed by portable X-ray fluorescence spectrometry. Subsequent explorative data analysis was performed, supported by qualitative findings from 140 home-made reference samples. Micro-samples were further investigated by X-ray diffraction and scanning transmission electron microscopy to gain information about crystal structure and surface coating. This study reveals that Dutch 20th century artists were hesitant to use titanium white. In the Netherlands, the use of this pigment is observed convincingly from the 1970s onward and initially mostly in non-oil binders. Additionally, lead white was used until late in the 20th century for paints and grounds but rarely mixed with titanium white in paints. The study also indicated that many CoBrA artists used zinc white, underlining the risk of degradation due to soap formation. Furthermore, this study highlights the different production processes of titanium white. Through the association of titanium with niobium, an impurity only present for sulfate processed pigments, the production process can be identified. The absence of niobium indicates the presence of rutile and is thus a sign of paint stability, as well as a ‘post 1959’ dating. This explorative study illustrates the value of a combination of data analysis approaches, which includes assessment of spectra as well as descriptive, bivariate and multivariate analysis, for medium-sized datasets gathered at similar conditions.
Identification of the proto-inkstone by organic residue analysis: a case study from the Changle Cemetery in China
Authors: Ren Meng , Wang Renfang , Yang Yimin
Published: April 2018

The inkstone is a specific writing implement in China that was popularized since the Han Dynasty (202 BC–AD 220). A rectangular/round grinding plate accompanied with a grinding stone is considered as a kind of proto-inkstone. However, little scientific investigation has been performed to support this hypothesis. In this paper, a micro-destructive approach, including Fourier transform infrared spectroscopy (FTIR), Raman spectroscopy and gas chromatography coupled with mass spectrometry (GC–MS), were employed to analyse the black residues on a grinding plate and a grinding stone excavated from the Changle Cemetery (202 BC–AD 8) in northwestern China. The FTIR and Raman analyses indicated that the residues were ancient ink. GC–MS analysis further identified that the residues were pine-soot ink, based on the relative abundances of the main polycyclic aromatic hydrocarbons, as well as the detection of conifer biomarkers. The trace of animal glue was not detected in the residues; thus, the ink was possibly formed as small pellets and the small grinding stone was necessary to assist during the ink-grinding process. This study confirms that this set of stone implements is indeed an early type of inkstone, and offers some insight into the co-evolution relationship between ink production and inkstone shapes.
A timeline for the introduction of synthetic dyestuffs in Japan during the late Edo and Meiji periods
Authors: Cesaratto Anna , Luo Yan-Bing , Smith Henry D. , Leona Marco
Published: April 2018

A widespread belief among scholars and connoisseurs of the Japanese color woodblock print (nishiki-e) holds that synthetic dyes were imported from the West in the 1860s, and soon came to be used for all nishiki-e colorants during the Meiji period. These “cheap imported aniline dyes” are widely described as “gaudy”, “garish”, and “strident”, and thought to stand in sharp contrast to more muted “natural” colorants that preceded them. This study calls this narrative into question through an analysis of the colorants of nishiki-e from 1860 until 1900, using surface-enhanced Raman spectroscopy coupled with micro-Raman, XRF and fiber optic reflectance spectroscopies. The results show that the introduction of synthetic dyes was gradual and selective, and that most of the customary colorants of the late Edo period continued in use. The results revealed a series of key turning points after 1860: (1) In 1864, the purple dye rosaniline became the first synthetic dye to be used in nishiki-e, at first in combination with Prussian blue for a more bluish color. From 1875, it was usually mixed or replaced with methyl violet for a stronger purple. (2) In early 1869, a dramatic and until recently unrecognized transition took place, from the longstanding use of safflower as the dominant red, to its total replacement by imported cochineal carmine. Carmine remained the primary red for the next two decades, often combined with vermillion. (3) In 1877, eosine appeared as the first synthetic red dye in nishiki-e, used alone for pink, and in mixture with carmine for red. (4) Finally, from 1889, a succession of red naphthol dyes of more striking color appeared. Just about this time, however, a tendency to more restrained use of color and more painterly effects began to emerge in nishiki-e, and with the exception of a burst of dynamic color in prints depicting the Sino–Japanese War (1894–95), the uses of strong colors in Meiji prints receded. A final key finding is that colorants were often combined, either through mixture in a bowl or on the printing block, or by two-step overprinting.
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
Authors: Ahonen Saija , Seath Ian , Rusbridge Clare , Holt Susan , Key Gill , Wang Travis , Wang Peixiang , Minassian Berge A.
Published: April 2018

Background

Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one breed gives valuable information about the breed-wide genotype frequency of disease associated allele. Lafora disease is a late onset, recessively inherited genetic disease which is diagnosed in Miniature Wirehaired Dachshunds (MWHD). It is one of the most severe forms of canine epilepsy leading to neurodegeneration and, frequently euthanasia within a few years of diagnosis. Canine Lafora disease is caused by a dodecamer repeat expansion mutation in the NHLRC1 gene and a DNA test is available to identify homozygous dogs at risk, carriers and dogs free of the mutation.

Results

Blood samples were collected from 733 MWHDs worldwide, mostly of UK origin, for canine Lafora disease testing. Among the tested MWHD population 7.0% were homozygous for the mutation and at risk for Lafora disease. In addition, 234 dogs were heterozygous, indicating a carrier frequency of 31.9% in the tested population. Among the tested MWHDs, the mutant allele frequency was 0.2. In addition, data from the tested dogs over 6 years (2012–2017) indicated that the frequency of the homozygous and carrier dogs has decreased from 10.4% to 2.7% and 41.5% to 25.7%, respectively among MWHDs tested. As a consequence, the frequency of dogs free of the mutation has increased from 48.1% to 71.6%.

Conclusions

This study provides valuable data for the MWHD community and shows that the DNA test is a useful tool for the breeders to prevent occurrence of Lafora disease in MWHDs. DNA testing has, over 6 years, helped to decrease the frequency of carriers and dogs at risk. Additionally, the DNA test can continue to be used to slowly eradicate the disease-causing mutation in the breed. However, this should be done carefully, over time, to avoid further compromising the genetic diversity of the breed. The DNA test also provides a diagnostic tool for veterinarians if they are presented with a dog that shows clinical signs associated with canine Lafora disease.
Regulation of lubricin for functional cartilage tissue regeneration: a review
Authors: Lee Yunsup , Choi Jaehoon , Hwang Nathaniel S.
Published: April 2018

Background

Lubricin is chondrocyte-secreted glycoprotein that primarily conducts boundary lubrication between joint surfaces. Besides its cytoprotective function and extracellular matrix (ECM) attachment, lubricin is recommended as a novel biotherapeutic protein that restore functional articular cartilage. Likewise, malfunction of lubrication in damaged articular cartilage caused by complex and multifaceted matter is a major concern in the field of cartilage tissue engineering.

Main body

Although a noticeable progress has been made toward cartilage tissue regeneration through numerous approaches such as autologous chondrocyte implantation, osteochondral grafts, and microfracture technique, the functionality of engineered cartilage is a challenge for complete reconstruction of cartilage. Thus, delicate modulation of lubricin along with cell/scaffold application will expand the research on cartilage tissue engineering.

Conclusion

In this review, we will discuss the empirical analysis of lubricin from fundamental interpretation to the practical design of gene expression regulation.
The preservation of teeth with root-originated fractures
Authors: Rosen Eyal , Beitlitum Ilan , Tsesis Igor
Published: April 2018

Traditionally, when a root-originated fracture (ROF) was diagnosed in an endodontically treated tooth, the tooth was scheduled for extraction. However, modern endodontics offers new treatment options to manage and maintain certain ROF teeth. The decision of whether to extract a ROF tooth and substitute it with a dental implant, or to implement a more conservative management approach by attempting an additional endodontic treatment aimed to preserve the natural tooth, is complicated and multifactorial. The management alternatives of ROF teeth range from a traditional root amputation in multi-rooted teeth to modern endodontic surgical modalities that may enable the preservation of a fractured tooth. This required decision-making process includes prosthetic, periodontal, esthetic, endodontic, and patient value concerns.
Hereditary Myelopathies
Authors: Hedera Peter
Published: April 2018

PURPOSE OF REVIEW

Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than isolated spinal cord dysfunction. This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias.

RECENT FINDINGS

The ever-growing number of myelopathy-causing genes and broadening of phenotype-genotype correlations makes the molecular diagnosis of inherited myelopathies a daunting task. This article emphasizes the main phenotypic clusters among inherited myelopathies that can facilitate the diagnostic process. This article focuses on newly identified genetic causes and the most important identifying clinical features that can aid the diagnosis, including the presence of a characteristic age of onset and additional neurologic signs such as leukodystrophy, thin corpus callosum, or amyotrophy.

The exclusion of potentially treatable causes of myelopathy remains the most important diagnostic step. Syndromic diagnosis can be supported by molecular diagnosis, but the genetic diagnosis at present does not change the management. Moreover, a negative genetic test does not exclude the diagnosis of a hereditary myelopathy because comprehensive molecular testing is not yet available, and many disease-causing genes remain unknown.
Traumatic Spinal Cord Injury
Authors: Rabinstein Alejandro A.
Published: April 2018

PURPOSE OF REVIEW

This article provides an update on the acute and subacute management and prognostication of patients with traumatic spinal cord injury.

RECENT FINDINGS

Immobilization of the spine and spine clearance should be individualized depending on the ability to perform a reliable neurologic examination, the presence of neck pain, and the imaging findings. Early surgery (within 24 hours) to achieve definitive cord decompression and spine stabilization may be beneficial. Ensuring adequate oxygenation and perfusion and avoiding secondary systemic complications remain the goals of the critical care of these patients. No neuroprotective treatment has been shown to improve outcomes. In fact, the use of high-dose methylprednisolone is now generally discouraged because of its major systemic adverse effects. Survivors of severe cervical traumatic spinal cord injury typically sustain substantial long-term functional impairment. Advances in our understanding of neuroregenerative strategies, especially stem cell transplantation, can offer the future hope of functional improvement to the many patients currently living with the consequences of traumatic spinal cord injury. Yet, at present, these therapies remain strictly investigational.

The treatment of traumatic spinal cord injury remains supportive, and prognosis is still poor for patients who are severely affected. While much remains to be learned about how to optimize the acute management of these patients, future efforts would be most useful if focused on injury prevention and the development of effective neuroregenerative therapies.
Physiological and Functional Alterations after Spaceflight and Bed Rest
Authors: MULAVARA AJITKUMAR P. , PETERS BRIAN T. , MILLER CHRIS A. , KOFMAN IGOR S. , RESCHKE MILLARD F. , TAYLOR LAURA C. , LAWRENCE EMILY L. , WOOD SCOTT J. , LAURIE STEVEN S. , LEE STUART M. C. , BUXTON ROXANNE E. , MAY-PHILLIPS TIFFANY R. , STENGER MICHAEL B. , PLOUTZ-SNYDER LORI L. , RYDER JEFFREY W. , FEIVESON ALAN H. , BLOOMBERG JACOB J.
Published: April 2018

Introduction

Exposure to microgravity causes alterations in multiple physiological systems, potentially impacting the ability of astronauts to perform critical mission tasks. The goal of this study was to determine the effects of spaceflight on functional task performance and to identify the key physiological factors contributing to their deficits.

Methods

A test battery comprised of seven functional tests and 15 physiological measures was used to investigate the sensorimotor, cardiovascular, and neuromuscular adaptations to spaceflight. Astronauts were tested before and after 6-month spaceflights. Subjects were also tested before and after 70 d of 6° head-down bed rest, a spaceflight analog, to examine the role of axial body unloading on the spaceflight results. These subjects included control and exercise groups to examine the effects of exercise during bed rest.

Results

Spaceflight subjects showed the greatest decrement in performance during functional tasks that required the greatest demand for dynamic control of postural equilibrium which was paralleled by similar decrements in sensorimotor tests that assessed postural and dynamic gait control. Other changes included reduced lower limb muscle performance and increased HR to maintain blood pressure. Exercise performed during bed rest prevented detrimental change in neuromuscular and cardiovascular function; however, both bed rest groups experienced functional and balance deficits similar to spaceflight subjects.

Conclusion

Bed rest data indicate that body support unloading experienced during spaceflight contributes to postflight postural control dysfunction. Further, the bed rest results in the exercise group of subjects confirm that resistance and aerobic exercises performed during spaceflight can play an integral role in maintaining neuromuscular and cardiovascular functions, which can help in reducing decrements in functional performance. These results indicate that a countermeasure to mitigate postflight postural control dysfunction is required to maintain functional performance.
Spatial band-pass filtering aids decoding musical genres from auditory cortex 7T fMRI
Authors: Sengupta Ayan , Pollmann Stefan , Hanke Michael
Published: April 2018

Spatial filtering strategies, combined with multivariate decoding analysis of BOLD images, have been used to investigate the nature of the neural signal underlying the discriminability of brain activity patterns evoked by sensory stimulation – primarily in the visual cortex. Previous research indicates that such signals are spatially broadband in nature, and are not primarily comprised of fine-grained activation patterns. However, it is unclear whether this is a general property of the BOLD signal, or whether it is specific to the details of employed analyses and stimuli. Here we applied an analysis strategy from a previous study on decoding visual orientation from V1 to publicly available, high-resolution 7T fMRI on the response BOLD response to musical genres in primary auditory cortex. The results show that the pattern of decoding accuracies with respect to different types and levels of spatial filtering is comparable to that obtained from V1, despite considerable differences in the respective cortical circuitry.
CoverView: a sequence quality evaluation tool for next generation sequencing data
Authors: Münz Márton , Mahamdallie Shazia , Yost Shawn , Rimmer Andrew , Poyastro-Pearson Emma , Strydom Ann , Seal Sheila , Ruark Elise , Rahman Nazneen
Published: April 2018

Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped sequencing reads and user-specified regions to report depth of coverage, base and mapping quality metrics with increasing levels of detail from a chromosome-level summary to per-base profiles. CoverView can flag regions that do not fulfil user-specified quality requirements, allowing suboptimal data to be systematically and automatically presented for review. It also provides an interactive graphical user interface (GUI) that can be opened in a web browser and allows intuitive exploration of results.

We have integrated CoverView into our accredited clinical cancer predisposition gene testing laboratory that uses the TruSight Cancer Panel (TSCP). CoverView has been invaluable for optimisation and quality control of our testing pipeline, providing transparent, consistent quality metric information and automatic flagging of regions that fall below quality thresholds. We demonstrate this utility with TSCP data from the Genome in a Bottle reference sample, which CoverView analysed in 13 seconds.

CoverView uses data routinely generated by NGS pipelines, reads standard input formats, and rapidly creates easy-to-parse output text (.txt) files that are customised by a simple configuration file. CoverView can therefore be easily integrated into any NGS pipeline. CoverView and detailed documentation for its use are freely available at github.com/RahmanTeamDevelopment/CoverView/releases and www.icr.ac.uk/CoverView
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance
Authors: Mahamdallie Shazia , Ruark Elise , Yost Shawn , Münz Márton , Renwick Anthony , Poyastro-Pearson Emma , Strydom Ann , Seal Sheila , Rahman Nazneen
Published: April 2018

Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated.

Three primary metrics are used in NGS quality evaluation: depth of coverage, base quality and mapping quality. To provide consistency and transparency in the utilisation of these metrics we present the Quality Sequencing Minimum (QSM).

The QSM defines the minimum quality requirement a laboratory has selected for depth of coverage (C), base quality (B) and mapping quality (M) and can be applied per base, exon, gene or other genomic region, as appropriate. The QSM format is CX_BY(PY)_MZ(PZ). X is the parameter threshold for C, Y the parameter threshold for B, PY the percentage of reads that must reach Y, Z the parameter threshold for M, PZ the percentage of reads that must reach Z. The data underlying the QSM is in the BAM file, so a QSM can be easily and automatically calculated in any NGS pipeline.

We used the QSM to optimise cancer predisposition gene testing using the TruSight Cancer Panel (TSCP). We set the QSM as C50_B10(85)_M20(95). Test regions falling below the QSM were automatically flagged for review, with 100/1471 test regions QSM-flagged in multiple individuals. Supplementing these regions with 132 additional probes improved performance in 85/100. We also used the QSM to optimise testing of genes with pseudogenes such as PTEN and PMS2. In TSCP data from 960 individuals the median number of regions that passed QSM per sample was 1429 (97%).  Importantly, the QSM can be used at an individual report level to provide succinct, comprehensive quality assurance information about individual test performance.

We believe many laboratories would find the QSM useful. Furthermore, widespread adoption of the QSM would facilitate consistent, transparent reporting of genetic test performance by different laboratories.
What happened to Linnaeus’s Iris florentina? Re–evaluation of this taxon at species level
Authors: Martini Giordano , Viciani Daniele
Published: April 2018

Iris florentina is a species of Iris with white flowers belonging to the bearded group (subg. Iris, sect. Iris). In ancient times it was cultivated around Florence (Italy) and in other parts of southern Europe and was validly described by Linnaeus in 1759. However, this early name has been used since by many authors to indicate a number of different entities of white–flowered irises that do not always match the Linnaean description. This has resulted in a certain taxonomic confusion that is here reconstructed and illustrated. The results of our investigations show that I. florentina should be re–evaluated at the species level and not considered an albino variety of I. germanica. A neotype is here proposed. This study also shows that the name I. albicans must be considered a later synonym for I. florentina, while I. alba describes a different white–flowered Iris related to I. germanica.
НАГЛЯДНОСТЬ КАК ПРИНЦИП ОБУЧЕНИЯ В ИСТОРИИ ОТЕЧЕСТВЕННОЙ ПЕДАГОГИКИ
Authors: Gaifutdinov Azat Minabutdinovich , Gaifutdinova Tatyana Viktorovna
Published: April 2018

Цель. Статья посвящена актуальной в условиях современной перестройки общеобразовательной школы проблеме дидактических принципов, составляющих теоретическую основу процесса обучения. Предметом анализа выступает содержание принципа наглядности. Авторы ставят целью определение основных критериев понятий «закон», «принцип», «правило» обучения и соответствие им принципа наглядности.Метод или методология проведения работы. Основу исследования образует историко-педагогический анализ, теоретическое обобщение и интерпретация результатов педагогических и историко-педагогических исследований.Результаты. Результаты работы заключаются в том, что авторы на основе изучения истории формирования структуры и содержания наглядности как требования к процессу обучения определяют его соответствие критериям понятия «принцип обучения». В общепринятой формулировке «принцип наглядности» является средством обучения. Проявляется смешение понятий «принцип» и «средство» в раскрытии содержания требования наглядности. Его второе название «единство конкретного и абстрактного» выражает направление развития процесса через обращение к практике на каждом этапе теоретического обучения.Область применения результатов. Результаты исследования могут быть применены в сфере прогнозирования.