bluuebunny/crossref_metadata_2025 huggingface dataset:
Outcome of transforaminal epidural steroid injection for lumbar radiculopathy: initial three-year experience at Upendra Devkota Memorial-National Institute of Neurological and Allied Sciences, Nepal
Authors: Shrestha Pratyush , Subba Lojima , Agrawal Prity , Lohani Subash
Published: February 2020

Background

The prevalence of low back pain with radiculopathy in general population varies from 9.9% to 25%, which can be due to bony narrowing of the lateral recess or due to prolapsed intervertebral disc. Transforaminal epidural injection of a mixture of long-acting anaesthetic (bupivacaine) and particulate steroids (depomedrol) has been a treatment modality in patients not responding to initial physiotherapy and neuropathic pain medications.

Methods

To analyze the effectiveness of transforaminal epidural steroid injection (TFESI) in the treatment of low back pain with radiculopathy, a retrospective case series evaluating the records of patients that received TFESI (1 mL 0.5% bupivacaine +1 ml/40 mg depomedrol) under C-arm guidance from January 2015 to December 2018 (3 years) at Upendra Devkota Memorial-National Institute of Neurological and Allied Sciences (UDM-NINAS), their lumbo-sacral MRI and the pre-procedure, 1-week and 3-month numeric pain rating scale, were analyzed. Successful treatment (reduction of pain scale by more than 50% of baseline at 3 months) in the patients with bony recess stenosis and those with prolapsed intervertebral disc was compared.

Results

Out of 67 patients that received TFESI, 35 (52.23%) could be followed up. The mean age was 55.8 ± 14.39 years and 51.3% were females. 68.57% had L5 and 20% had S1 radiculopathy. Bony recess stenosis was seen in the aged 40% and PIVD was the cause of radiculopathy in 60%. The median duration of radicular pain prior to intervention was 3 months. TFESI was effective as the mean numeric pain scale before injection was 8.97 ± 1.32 which reduced to 3.91 ± 3.23 (pairedttestpvalue < 0.001) at 1 week post injection and 3.23 ± 3.34 (pairedttestpvalue < 0.001) at 3 months post injection. Twenty-six of the 35 patients (75.29%) had more than 50% pain relief compared to baseline at 3 months and were satisfied. Nine patients continued to have pain; however, only one required a surgical intervention. The effectiveness of TFESI was not significantly different in different ages (Fisher’s exact testpvalue 0.182) and in different anatomic levels (Fisher’s exact testpvalue 0.241). Six out of eight patients with bony recess stenosis benefited as compared to 14 out of 19 patients with PIVD, though it was not statistically significant (Fischer’s exact testpvalue 0.688). There were no adverse events recorded.

Conclusion

TFESI is a safe and efficacious treatment modality in patients with radicular low back pain especially in aged patients in whom surgery under general anaesthesia is not free from risk.
Locally advanced rectal cancer: 3D diffusion-prepared stimulated-echo turbo spin-echo versus 2D diffusion-weighted echo-planar imaging
Authors: Zhang Qinwei , van Houdt Petra J. , Lambregts Doenja M. J. , van Triest Baukelien , Kop Marnix P. M. , Coolen Bram F. , Strijkers Gustav J. , van der Heide Uulke A. , Nederveen Aart J.
Published: February 2020

Background

Diffusion-weighted imaging (DWI) has shown great value in rectal cancer imaging. However, traditional DWI with echo-planar imaging (DW-EPI) often suffers from geometrical distortions. We applied a three-dimensional diffusion-prepared stimulated-echo turbo spin-echo sequence (DPsti-TSE), allowing geometrically undistorted rectal DWI. We compared DPsti-TSE with DW-EPI for locally advanced rectal cancer DWI.

Methods

For 33 prior-to-treatment patients, DWI images of the rectum were acquired with DPsti-TSE and DW-EPI at 3 T using b-values of 200 and 1000 s/mm2. Two radiologists conducted a blinded scoring of the images considering nine aspects of image quality and anatomical quality. Tumour apparent diffusion coefficient (ADC) and distortions were compared quantitatively.

Results

DPsti-TSE scored significantly better than DW-EPI in rectum distortion (p = 0.005) and signal pileup (p = 0.001). DPsti-TSE had better tumour Dice similarity coefficient compared to DW-EPI (0.84 versus 0.80, p = 0.010). Tumour ADC values were higher for DPsti-TSE compared to DW-EPI (1.47 versus 0.86 × 10-3 mm2/s, p < 0.001). Radiologists scored DPsti-TSE significantly lower than DW-EPI on aspects of overall image quality (p = 0.001), sharpness (p < 0.001), quality of fat suppression (p < 0.001), tumour visibility (p = 0.009), tumour conspicuity (p = 0.010) and rectum wall visibility (p = 0.005).

Conclusions

DPsti-TSE provided geometrically less distorted rectal cancer diffusion-weighted images. However, the image quality of DW-EPI over DPsti-TSE was referred on the basis of several image quality criteria. A significant bias in tumour ADC values from DPsti-TSE was present. Further improvements of DPsti-TSE are needed until it can replace DW-EPI.
Integrating radiomics into holomics for personalised oncology: from algorithms to bedside
Authors: Gatta Roberto , Depeursinge Adrien , Ratib Osman , Michielin Olivier , Leimgruber Antoine
Published: February 2020

Radiomics, artificial intelligence, and deep learning figure amongst recent buzzwords in current medical imaging research and technological development. Analysis of medical big data in assessment and follow-up of personalised treatments has also become a major research topic in the area of precision medicine. In this review, current research trends in radiomics are analysed, from handcrafted radiomics feature extraction and statistical analysis to deep learning. Radiomics algorithms now include genomics and immunomics data to improve patient stratification and prediction of treatment response. Several applications have already shown conclusive results demonstrating the potential of including other “omics” data to existing imaging features. We also discuss further challenges of data harmonisation and management infrastructure to shed a light on the much-needed integration of radiomics and all other “omics” into clinical workflows. In particular, we point to the emerging paradigm shift in the implementation of big data infrastructures to facilitate databanks growth, data extraction and the development of expert software tools. Secured access, sharing, and integration of all health data, called “holomics”, will accelerate the revolution of personalised medicine and oncology as well as expand the role of imaging specialists.
Black esophagus as an autopsy discovery: a challenging interpretation
Authors: Kerschen Anja , Schmit Gregory , De Boosere Evy , Palmiere Cristian , Vanhaebost Jessica
Published: February 2020

Black esophagus is a rare medical condition, characterized by a circumferential blackish discoloration of the distal part of the esophageal mucosa, abruptly ending at the gastroesophageal junction. The etiology is multifactorial since patients suffer from multiple comorbidities. While the mortality rate specifically linked to black esophagus is only around 6%, the mortality rate linked to the underlying comorbidities amounts to 32%.

A series of five cases is provided in which black esophagus was an unexpected discovery at autopsy. Black esophagus is generally considered being a challenge to the forensic pathologist. There are often no other major gross anomalies found at autopsy and information about the patient’s medical history is not always available, which complicates a correct assessment.

We present a review of the literature on black esophagus, limited to reports on deceased patients. The reviewed publications are divided into autopsy and endoscopy series to correctly compare the causes of death.

The aim of this review is to identify a possible divergence in causes of death in autopsy and endoscopy series and additionally to analyze the causes of these differences to enable better assessment and interpretation of black esophagus at forensic autopsies. This paper emphasizes the importance of a minimal knowledge of the victim’s comorbidities and medical record and the use of toxicology and postmortem biochemistry analysis as a valuable tool in investigating the cause of death in the setting of black esophagus.
The applicability of Willems dental age estimation method for Indonesian children population in Surabaya
Authors: Kurniawan Arofi , Agitha Shintya Rizky Ayu , Margaretha Mieke Sylvia , Utomo Haryono , Chusida An’nisaa , Sosiawan Agung , Marini Maria Istiqomah , Rizky Beta Novia
Published: February 2020

Background

The applicability of dental age estimation has been expanded to meet a variety of medico-legal needs, law enforcement, and disaster victim identification. The objective of this study is to examine the applicability of the Willems method for Indonesian children.

Material and method

A total of 110 panoramic radiographs of the patients (6–14 years old) who met the inclusion criteria were obtained from the Department of Forensic Odontology and Department of Radiology, Universitas Airlangga, Indonesia. Estimated dental age (EDA) was assessed using the Willems method by two blinded examiners. The statistical analysis was carried out using IBM® SPSS® Statistics version 23.0 (IBM, Armonk, NY, USA).

Results and discussion

The mean of the chronological age (CA) in this study is 11.30 ± 1.43 years (boys) and 11.65 ± 1.55 years (girls). The overall mean difference between CA and EDA for boys and girls is − 0.08 ± 0.76 and − 0.31 ± 0.97, respectively. This study showed that the mean age difference in girls was more significant than in boys. The growth spurt timing between boys and girls might cause a difference in dental maturation, whereas the onset of the pubertal growth spurt in girls is about 2 years earlier than in boys. In general, girls start and finish their dental development earlier than boys end.

Conclusion

The present study suggests that the dental age estimation methods proposed by Willems can be considered as an applicable method for the children population in Surabaya, both boys and girls. However, a detailed study may be required while applying this approach to the 11–14-year-old girl population in Surabaya, as a substantial underestimation was observed in this community.
Antibiotic resistance gene sharing networks and the effect of dietary nutritional content on the canine and feline gut resistome
Authors: Kim Younjung , Leung Marcus H. Y. , Kwok Wendy , Fournié Guillaume , Li Jun , Lee Patrick K. H. , Pfeiffer Dirk U.
Published: February 2020

Background

As one of the most densely populated microbial communities on Earth, the gut microbiota serves as an important reservoir of antibiotic resistance genes (ARGs), referred to as the gut resistome. Here, we investigated the association of dietary nutritional content with gut ARG diversity and composition, using publicly available shotgun metagenomic sequence data generated from canine and feline fecal samples. Also, based on network theory, we explored ARG-sharing patterns between gut bacterial genera by identifying the linkage structure between metagenomic assemblies and their functional genes obtained from the same data.

Results

In both canine and feline gut microbiota, an increase in protein and a reduction in carbohydrate in the diet were associated with increased ARG diversity. ARG diversity of the canine gut microbiota also increased, but less strongly, after a reduction in protein and an increase in carbohydrate in the diet. The association between ARG and taxonomic composition suggests that diet-induced changes in the gut microbiota may be responsible for changes in ARG composition, supporting the links between protein metabolism and antibiotic resistance in gut microbes. In the analysis of the ARG-sharing patterns, 22 ARGs were shared among 46 genera in the canine gut microbiota, and 11 ARGs among 28 genera in the feline gut microbiota. Of these ARGs, the tetracycline resistance genetet(W) was shared among the largest number of genera, predominantly amongFirmicutesgenera.Bifidobacterium, a genus extensively used in the fermentation of dairy products and as probiotics, sharedtet(W) with a wide variety of other genera. Finally, genera from the same phylum were more likely to share ARGs than with those from different phyla.

Conclusions

Our findings show that dietary nutritional content, especially protein content, is associated with the gut resistome and suggest future research to explore the impact of dietary intervention on the development of antibiotic resistance in clinically-relevant gut microbes. Our network analysis also reveals that the genetic composition of bacteria acts as an important barrier to the horizontal transfer of ARGs. By capturing the underlying gene-sharing relationships between different bacterial taxa from metagenomes, our network approach improves our understanding of horizontal gene transfer dynamics.
Gastronomic satisfaction of the tourist: empirical study in the Creative City of Popayán, Colombia
Authors: Rodríguez-Gutiérrez Pablo , González Santa Cruz Francisco , Pemberthy Gallo Luz Stella , López-Guzmán Tomás
Published: February 2020

Currently, gastronomy is a fundamental element for tourists to discover the culture and traditions of a destination. The transcendence granted to a culinary experience in a specific place can become a fundamental motivation for the visit and determine the level of satisfaction reached. In this research, the relationship between tourism and gastronomy is analysed in the city of Popayán, Colombia, a city that has received recognition from UNESCO as a Creative City of Gastronomy. To do this, we examine the influence of different dimensions of culinary motivation in the satisfaction with gastronomy that is experienced during the visit. In addition, we analyse the role of tourist attitude towards culinary experience in gastronomy satisfaction. The methodology used in this research is based on partial least squares structural equation modelling. The main results indicate that the importance of the culinary experience of the tourist in the choice of the destination mediates the effect that culinary motivations exercise on the satisfaction with the gastronomy.
Diagnosis of gastric cancer by MDCT gastrography: diagnostic characteristics and management potential
Authors: Zytoon Ashraf Anas , El-Atfey Safaa Ibrahim Bendary , Hassanein Shaimaa Abdel-Hamid
Published: February 2020

Background

Gastric cancer is regarded as the fifth most frequent tumor globally but the third most common fatal illness. As early as possible, we diagnose cancer stomach especially at early stages, the higher the rate of life. Nevertheless, most cases are diagnosed at late cases where surgery is not of the same benefit at early stages because of clinically indefinite symptoms. The prospective study goal is to estimate the role of MDCT in diagnosis and staging of cancer stomach.

Results

In our study, it was found that there was a high relationship between pathological and CT staging by using MPR. CT with MPR was specific and accurate in diagnosis of all stages of gastric cancer with specificity ranged between 93 and 97% and accuracy ranged between 90 and 92.5%. However, it showed lowest sensitivity in diagnosis of stage 1 of gastric cancer. On the other hand, it showed highest sensitivity (90%) in diagnosis of stage IV as well as we found that MPR and VR of MDCT are much more accurate (92.5%) than multi-detector computed tomography axial images (80%) in the diagnosis of all stages of gastric cancer with the difference between the two sequences was significant (P = 0.009).

Conclusion

Our results demonstrate that preoperative MDCT with contrast filling technique for abdomen and pelvis evaluates the local disease process of gastric cancer as well as the potential areas of spread. This information is vital in choosing between palliative or radical surgery. MPR and VR help in the assessment of tumor extension and considered as a highly representative prognostic value. Making it the imaging modality of choice in diagnosis and staging of gastric cancers.
Social gradients in the receipt of medication for attention-deficit hyperactivity disorder in children and young people in Sheffield
Authors: Nunn Samuel P.T. , Kritsotakis Evangelos I. , Harpin Val , Parker Jack
Published: February 2020

Background

Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterised by inattention and hyperactivity-impulsivity that can affect people throughout their life course. A social gradient exists in the prevalence of ADHD in the UK. Studies in other countries have shown that social gradients also exist in the receipt of medication for ADHD. Socioeconomic position is potentially an unrecognised and modifiable factor in children and young people's receipt of medication for ADHD in the UK.

Aim

The aim of the study was to investigate if socioeconomic position could explain in part whether or not children and young people in Sheffield are receiving medication for ADHD.

Method

We used multivariate logistic regression modelling to investigate whether socioeconomic position could explain variation in receipt of medication for ADHD in children and young people in a cross-sectional study. We collected data from 1354 children and young people with a diagnosis of ADHD across three Sheffield centres between January and December 2016. Independent variables were age, gender, religion, ethnicity, comorbidities, and Index of Multiple Deprivation decile (derived from home postcode).

Results

Our results showed a social gradient in the receipt of medication for ADHD (P<0.01); an increase in one decile of the Index of Multiple Deprivation was associated with 10% lower odds of receipt of medication for ADHD (adjusted odds ratio 0.90, 95% CI 0.84–0.97).

Conclusion

Children and young people from more deprived backgrounds are more likely to receive medication for ADHD. This is the first time that a social gradient in children and young people's receipt of medication for ADHD has been shown in a UK sample.
Telephone-based nurse-delivered interpersonal psychotherapy for postpartum depression: nationwide randomised controlled trial
Authors: Dennis Cindy-Lee , Grigoriadis Sophie , Zupancic John , Kiss Alex , Ravitz Paula
Published: February 2020

Background

Postpartum depression and anxiety are under-addressed public health problems with numerous treatment access barriers, including insufficiently available mental health specialist providers.

Aims

To examine the effectiveness of nurse-delivered telephone interpersonal psychotherapy (IPT) for postpartum depression. Trial registration ISRCTN88987377.

Method

Postpartum women (n= 241) with major depression (on the Structured Clinical Interview for DSM-IV (SCID-I)) from 36 Canadian public health regions in rural and urban settings were randomly assigned to 12 weekly 60 min nurse-delivered telephone-IPT sessions or standard locally available care. The primary outcome was the proportion of women clinically depressed at 12 weeks post-randomisation, with masked intention-to-treat analysis. Secondary outcomes examined included comorbid anxiety, self-reported attachment and partner relationship quality.

Results

At 12 weeks, 10.6% of women in the IPT group (11/104) and 35% in the control group (35/100) remained depressed (OR = 0.22, 95% CI 0.10–0.46), with the IPT group 4.5 times less likely to be clinically depressed (SCID); 21.2% in the IPT group and 51% in the control group had an Edinburgh Postnatal Depression Scale (EPDS) score >12 (OR = 0.26, 95% CI 0.14–0.48), and attachment avoidance decreased more in the IPT group than in the control group (P= 0.02). Significant differences favoured the IPT group for comorbid anxiety and partner relationship quality at all time points, with no differences in health service or antidepressant use. None of the IPT responders relapsed by 36 weeks. Between-group SCID differences were sustained at 24 weeks, but not at 36 weeks.

Conclusions

Nurse-delivered telephone IPT is an effective treatment for diverse urban and rural women with postpartum depression and anxiety that can improve treatment access disparities.
No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing
Authors: Stoll Jessica , Rosenthal Eric , Cummings Shelly , Willmott Jamie , Bernhisel Ryan , Kupfer Sonia S.
Published: February 2020

PURPOSE

Prior estimates of breast cancer risk in women with Lynch syndrome (LS) range from population risk to 18-fold increased risk with reported differences by gene. Here, breast cancer rates were determined in a large cohort of women with pathogenic variants (PVs) in a mismatch repair (MMR) gene detected through multigene panel testing and compared with rates in the US population and women undergoing panel testing.

METHODS

MMR gene PV carriers were identified among women tested for suspicion of LS or hereditary breast and ovarian cancer (HBOC) who met inclusion criteria. Standardized incidence ratios (SIRs) and 95% CIs of breast cancer were calculated compared with age-matched incidence in the general US female population and with women negative for PVs stratified by the test indication.

RESULTS

In total, 0.8% of women (30,362 of 441,966 women) carried MMR gene PVs. PVs in PMS2 (37.5%) and MSH6 (29.3%) were more common than in MLH1 (13.7%) and MSH2/EPCAM (19.4%). Women with PVs in PMS2 and MSH6 were tested more frequently for HBOC, whereas those with PVs in MLH1 and MSH2/EPCAM were tested more frequently for LS. Breast cancer rates in women with LS were lower than those in the general female population (SIR, 0.88; 95% CI, 0.81 to 0.96) and did not differ compared with women with negative panel testing for HBOC (SIR, 0.90; 95% CI, 0.82 to 0.99) or LS (SIR, 1.02; 95% CI, 0.78 to 1.30).

CONCLUSION

In this large cohort of women with LS identified through panel testing, there was no evidence for increased risk of breast cancer compared with the general US population or women undergoing panel testing. These findings support average-risk breast cancer screening in women with LS.
Tracing Squiggles: Laurence Sterne, E. T. A. Hoffmann, and Honoré de Balzac
Authors: Dickson Polly
Published: February 2020

This article examines the figure of an undulating line, or “squiggle,” printed initially in Laurence Sterne’s Tristram Shandy and copied by two nineteenth-century writers: first, by the German E. T. A. Hoffmann, in a little-known fragment, and, second, more famously, by the French Honoré de Balzac as the epigraph to his novel La peau de chagrin. These three squiggles form a triangulated relationship of imitation across two centuries, three countries, and three languages. Through attention to William Hogarth’s line of beauty and Johann Caspar Lavater’s physiognomic contour lines, the article considers the history of the undulating line as a figure for reading. It suggests that, for Sterne, Hoffmann, and Balzac, the inclusion of a pictured line within text may be seen as a “reverse ekphrastic” maneuver, one that aims to reflect the movement of narrative in visual form. In this way, the “squiggle” is foregrounded as a new and concrete motif for comparative criticism on Hoffmann and Balzac, identifying a shared interest in Sterne, as well as in the relationship and entanglement of text and image.
Heart rate and cardiac response to exercise during voluntary dives in captive sea turtles (Cheloniidae)
Authors: Okuyama Junichi , Shiozawa Maika , Shiode Daisuke
Published: February 2020

In chelonids, oxygen is primarily stored in the lungs during a dive. Therefore, management of blood oxygen transportation to peripheral tissues by cardiovascular adjustments during submergence is crucial to maximize their dive duration, and consequently, the time spent for ecological activities such as foraging. However, the cardiac response to exercise, has rarely been examined in sea turtles. In this study, heart rate and its relationship with exercise during voluntary dives were determined in six captive green turtles (19.4±1.5 kg) by simultaneously recording depth, acceleration, and electrocardiogram. Our results demonstrated that the heart rate of green turtles was generally low (11.1±0.4 bpm) during resting dives, but they often exhibited instantaneously extreme tachycardia (up to 78.4 bpm). Green turtles elevated their heart rate up to 39.8±1.5 bpm during ventilation after resting dives, while up to 33.1±1.4 bpm after active dives. The heart rate immediately elevated with onset of exercise, and increased linearly with exercise. This result may indicate that turtles immediately need to transport oxygen from the lungs to peripheral tissues by pulmonary and systemic circulations to meet the metabolic demands of exercise because they mainly store oxygen in their lungs.
A function of profilin in force generation during malaria parasite motility independent of actin binding
Authors: Moreau Catherine A. , Quadt Katharina A. , Piirainen Henni , Kumar Hirdesh , Bhargav Saligram P. , Strauss Léanne , Tolia Niraj H. , Wade Rebecca C. , Spatz Joachim P. , Kursula Inari , Frischknecht Friedrich
Published: February 2020

During transmission of malaria-causing parasites from mosquito to mammal, Plasmodium sporozoites migrate at high speed within the skin to access the bloodstream and infect the liver. This unusual gliding motility is based on retrograde flow of membrane proteins and highly dynamic actin filaments that provide short tracks for a myosin motor. Using laser tweezers and parasite mutants, we previously suggested that actin filaments form macromolecular complexes with plasma-membrane spanning adhesins to generate force during migration. Mutations in the actin-binding region of profilin, a near ubiquitous actin-binding protein, revealed that loss of actin binding also correlates with loss of force production and motility. Here we show that different mutations in profilin, not affecting actin binding in vitro, still generate lower force during Plasmodium sporozoite migration. Lower force generation inversely correlates with increased retrograde flow suggesting that, like in mammalian cells, the slow-down of flow to generate force is the key underlying principle governing Plasmodium gliding motility.
CLN3 regulates endosomal function by modulating Rab7A–effector interactions
Authors: Yasa Seda , Modica Graziana , Sauvageau Etienne , Kaleem Abuzar , Hermey Guido , Lefrancois Stephane
Published: February 2020

Mutations in CLN3 are a cause of juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease. Clinical manifestations include cognitive regression, progressive loss of vision and motor function, epileptic seizures and a significantly reduced lifespan. CLN3 localizes to endosomes and lysosomes, and has been implicated in intracellular trafficking and autophagy. However, the precise molecular function of CLN3 remains to be elucidated. Previous studies showed an interaction between CLN3 and Rab7A, a small GTPase that regulates several functions at late endosomes. We confirmed this interaction in live cells and found that CLN3 is required for the efficient endosome-to-TGN trafficking of the lysosomal sorting receptors because it regulates the Rab7A interaction with retromer. In cells lacking CLN3 or expressing CLN3 harbouring a disease-causing mutation, the lysosomal sorting receptors were degraded. We also demonstrated that CLN3 is required for the Rab7A–PLEKHM1 interaction, which is required for fusion of autophagosomes to lysosomes. Overall, our data provide a molecular explanation behind phenotypes observed in JNCL and give an indication of the pathogenic mechanism behind Batten disease.

This article has an associated First Person interview with the first author of the paper.
Genome editing approaches to augment livestock breeding programs
Authors: Bishop Thomas Frederick , Van Eenennaam Alison Louise
Published: February 2020

The prospect of genome editing offers a number of promising opportunities for livestock breeders. Firstly, these tools can be used in functional genomics to elucidate gene function, and identify causal variants underlying monogenic traits. Secondly, they can be used to precisely introduce useful genetic variation into structured livestock breeding programs. Such variation may include repair of genetic defects, the inactivation of undesired genes, and the moving of useful alleles and haplotypes between breeds in the absence of linkage drag. Editing could also be used to accelerate the rate of genetic progress by enabling the replacement of the germ cell lineage of commercial breeding animals with cells derived from genetically elite lines. In the future, editing may also provide a useful complement to evolving approaches to decrease the length of the generation interval through in vitro generation of gametes. For editing to be adopted, it will need to seamlessly integrate with livestock breeding schemes. This will likely involve introducing edits into multiple elite animals to avoid genetic bottlenecks. It will also require editing of different breeds and lines to maintain genetic diversity, and enable structured cross-breeding. This requirement is at odds with the process-based trigger and event-based regulatory approach that has been proposed for the products of genome editing by several countries. In the absence of regulatory harmony, researchers in some countries will have the ability to use genome editing in food animals, while others will not, resulting in disparate access to these tools, and ultimately the potential for global trade disruptions.
Utilizing the blind cavefish Astyanax mexicanus to understand the genetic basis of behavioral evolution
Authors: Kowalko Johanna
Published: February 2020

Colonization of novel habitats often results in the evolution of diverse behaviors. Comparisons between individuals from closely related populations that have evolved divergent behaviors in different environments can be used to investigate behavioral evolution. However, until recently, functionally connecting genotypes to behavioral phenotypes in these evolutionarily relevant organisms has been difficult. The development of gene editing tools will facilitate functional genetic analysis of genotype–phenotype connections in virtually any organism, and has the potential to significantly transform the field of behavioral genetics when applied to ecologically and evolutionarily relevant organisms. The blind cavefish Astyanax mexicanus provides a remarkable example of evolution associated with colonization of a novel habitat. These fish consist of a single species that includes sighted surface fish that inhabit the rivers of Mexico and southern Texas and at least 29 populations of blind cavefish from the Sierra Del Abra and Sierra de Guatemala regions of Northeast Mexico. Although eye loss and albinism have been studied extensively in A. mexicanus, derived behavioral traits including sleep loss, alterations in foraging and reduction in social behaviors are now also being investigated in this species to understand the genetic and neural basis of behavioral evolution. Astyanax mexicanus has emerged as a powerful model system for genotype–phenotype mapping because surface and cavefish are interfertile. Further, the molecular basis of repeated trait evolution can be examined in this species, as multiple cave populations have independently evolved the same traits. A sequenced genome and the implementation of gene editing in A. mexicanus provides a platform for gene discovery and identification of the contributions of naturally occurring variation to behaviors. This review describes the current knowledge of behavioral evolution in A. mexicanus with an emphasis on the molecular and genetic underpinnings of evolved behaviors. Multiple avenues of new research that can be pursued using gene editing tools are identified, and how these will enhance our understanding of behavioral evolution is discussed.
Diversity in reproductive seasonality in the three-spined stickleback,Gasterosteus aculeatus
Authors: Ishikawa Asano , Kitano Jun
Published: February 2020

The annual timing of reproduction is a key life history trait with a large effect on fitness. Populations often vary in the timing and duration of reproduction to adapt to different seasonality of ecological and environmental variables between habitats. However, little is known about the molecular genetic mechanisms underlying interpopulation variation in reproductive seasonality. Here, we demonstrate that the three-spined stickleback (Gasterosteus aculeatus) is a good model for molecular genetic analysis of variations in reproductive seasonality. We first compiled data on reproductive seasons of diverse ecotypes, covering marine-anadromous, lake and stream ecotypes, of three-spined stickleback inhabiting a wide range of latitudes. Our analysis showed that both ecotype and latitude significantly contribute to variation in reproductive seasons. Stream ecotypes tend to start breeding earlier and end later than other ecotypes. Populations from lower latitudes tend to start breeding earlier than those from higher latitudes in all three ecotypes. Additionally, stream ecotypes tend to have extended breeding seasons at lower latitudes than at higher latitudes, leading to nearly year-round reproduction in the most southern stream populations. A review of recent progress in our understanding of the physiological mechanisms underlying seasonal reproduction in the three-spined stickleback indicates that photoperiod is an important external cue that stimulates and/or suppresses reproduction in this species. Taking advantage of genomic tools available for this species, the three-spined stickleback will be a good model to investigate what kinds of genes and mutations underlie variations in the physiological signalling pathways that regulate reproduction in response to photoperiod.
How to study enhancers in non-traditional insect models
Authors: Tomoyasu Yoshinori , Halfon Marc S.
Published: February 2020

Transcriptional enhancers are central to the function and evolution of genes and gene regulation. At the organismal level, enhancers play a crucial role in coordinating tissue- and context-dependent gene expression. At the population level, changes in enhancers are thought to be a major driving force that facilitates evolution of diverse traits. An amazing array of diverse traits seen in insect morphology, physiology and behavior has been the subject of research for centuries. Although enhancer studies in insects outside of Drosophila have been limited, recent advances in functional genomic approaches have begun to make such studies possible in an increasing selection of insect species. Here, instead of comprehensively reviewing currently available technologies for enhancer studies in established model organisms such as Drosophila, we focus on a subset of computational and experimental approaches that are likely applicable to non-Drosophila insects, and discuss the pros and cons of each approach. We discuss the importance of validating enhancer function and evaluate several possible validation methods, such as reporter assays and genome editing. Key points and potential pitfalls when establishing a reporter assay system in non-traditional insect models are also discussed. We close with a discussion of how to advance enhancer studies in insects, both by improving computational approaches and by expanding the genetic toolbox in various insects. Through these discussions, this Review provides a conceptual framework for studying the function and evolution of enhancers in non-traditional insect models.
Impact of accumulated alterations in driver and passenger genes on response to radiation therapy
Authors: Seo Yuji , Tamari Keisuke , Takahashi Yutaka , Minami Kazumasa , Isohashi Fumiaki , Suzuki Osamu , Sumida Iori , Ogawa Kazuhiko
Published: February 2020

Objective:

Although various single genetic factors have been shown to affect radiosensitivity, high-throughput DNA sequencing analyses have revealed complex genomic landscapes in many cancer types. The aim of this study is to elucidate the association between accumulated alterations in driver and passenger genes and radiation therapy response.

Methods:

We used 59 human solid cancer cell lines derived from 11 organ sites. Radiation-induced cell death was measured using a standard colony-forming assay delivered as a single dose ranging from 0 to 12 Gy. Comprehensive genomic data for the cell lines were acquired from the Catalogue Of Somatic Mutations In Cancer v. 80. Random forest classifiers were constructed to predict radioresistant phenotypes using genomic features. The Cancer Genome Atlas data sets were used to evaluate the clinical impact of the genomic feature following radiotherapy.

Results:

The 59 cancer cell lines harbored either nucleotide variations or copy number variations in a median of 157 genes per cell. Radiosensitivity of the cancer cells was correlated with neither the number of driver gene mutations nor the number of passenger gene mutations. However, the proportion of driver gene alterations to total gene alterations in gene sets selected from the Kyoto Encyclopedia Genes and Genomes predicted radioresistant cells with sensitivity of 85% and specificity of 73%. High probability of radioresistance predicted by the model was associated with worse overall survival following definitive radiotherapy in patients of The Cancer Genome Atlas data sets.

Conclusion:

Cellular radiosensitivity was associated with the proportion of driver to total gene alterations in the selected oncogenic pathways, which may be a biomarker candidate for response to radiation therapy.

Advances in knowledge:

These findings suggest that accumulated alterations in not only driver genes but also passenger genes affect radiosensitivity.
Effective Interactions: Resonances and Off-Shell Characteristics
Authors: Massen S. E. , Sofianos S. A. , Rakityansky S. A. , Oryu S.
Published: February 2020

The influence of resonances on the analytical properties and off-shell characteristics of effective interactions has been investigated. This requires, among others, the knowledge of the Jost function in regions of physical interest on the complex kplane when the potentials are given in a tabular form. The latter are encountered in inverse scattering and supersymmetric transformations. To investigate the effects of resonances on the analytical properties of the potential, we employed the Marchenko inverse scattering method to construct, phase and bound state equivalent local potentials but with different resonance spectra. It is shown that the inclusion of resonances changes the shape, strength, and range of the potential which in turn would modify the bound and scattering wave functions in the interior region. This could have important consequences in calculations of transition amplitudes in nuclear reactions, which strongly depend on the behaviour of the wave functions at short distances. Finally, an exact method to obtain the Jost solutions and the Jost functions for a repulsive singular potential is presented. The effectiveness of the method is demonstrated using the Lennard-Jones (12,6) potential.
Nucléon Electromagnetic Form Factors in a constituent-quark model
Authors: Demetriou P. , Boffi S. , Radici M. , Wagenbrunn R. F.
Published: February 2020

The electromagnetic form factors of the nucléon are calculated in an extended chiral constituent-quark model where the effective interaction is described by the exchange of pseudoscalar and vector mesons belonging to the pseudoscalar and pseudovector octet, respectively, and a scalar meson . Two-body current-density operators, constructed consistently with the extended model Hamiltonian in order to preserve gauge invariance and current conservation, are found to give a significant contribution to the nucléon magnetic form factors and improve the estimates of the nucleon magnetic moments.
Electron elastic scattering off a Tensor-polarized Deuterium Internal Target
Authors: Vodinas N. , Alarcon R. , Anghinolfi M. , Arenhövel H. , Van Bommel R. , Botto T. , Bouwhuis M. , Van den Brand J.F J. , Bucholz M. , Bulten H. J. , Choi S. , Comfort J. , Dimitroyannis D. , Doets M. , Dolfini S. , Ent R. , Ferro-Luzzi M. , Gaulard C. , Harvey M. , Higinbotham D. , De Jager C. W. , Konstantinov E. , Lang J. , De Lange D. J. , Leidemann W. , Miller M. A. , Nikolenko D. M. , Nooren G. J. , Papadakis N. , Passchier E. , Passchier I. , Poolman H. R. , Popov S. G. , Rachek I. , Ripani M. , Six E. , Steijger J.J. M. , Taiuti M. , Unal O. , De Vries H. , Zhou Z.-L.
Published: February 2020

The tensor analyzing power Γ20 in elastic electron-deuteron scattering has been measured in the four momentum transfer region between 1.4 and 3.2 fm~l using the Internal Target Facility at NIKHEF. Tensor-polarized deuterium is produced in an Atomic Beam Source and injected into a storage cell. Scattered electrons and recoil deuterons were detected in coincidence with two large acceptance nonmagnetic detectors.
Staggering Effects in Nuclear and Molecular Spectra
Authors: Bonatsos Dennis , Daskaloyannis C. , Drenska S. B. , Karoussos N. , Maruani J. , Minkov N. , Raychev P. P. , Roussev R. P.
Published: February 2020

It is shown that the recently observed AI = 2 staggering seen in superdeformed nuclear bands is also occurring in certain electronically excited rotational bands of diatomic molecules, in which it is attributed to interband interactions (bandcrossings). In addition, a AI = 1 staggering effect (i.e. a relative displacement of the levels with even angular momentum I with respect to the levels of the same band with odd /) is seen in molecular bands free from AI = 2 staggering (i.e. free from interband interactions/bandcrossings). The magnitude of the AI = 1 staggering is found to be constant as a function of 7, in agreement with the predictions of algebraic models (u(ll) model, u(16) model, Vector Boson Model) used for the description of octupole nuclear bands, i.e. bands corresponding to pear-like shapes, suggesting that the presence of AI = 1 staggering in rotational bands of diatomic molecules could be attributed in general to the inequality of the masses of the two atoms of which the molecule is composed. The existence of the AI = 1 staggering effect is corroborated by the fact that separate Dunham expansions for the even levels and the odd levels of such bands give similar but different parameter sets.
Atomic effects in astrophysical nuclear fusion reactions
Authors: Liolios Theodore E.
Published: February 2020

The electron-screening acceleration of laboratory fusion reactions at astrophysical' energies is an unsolved problem of great importance to astrophysics. That effect is modeled here by considering the fusion of hydrogen-like atoms whose electron probability density is used in Poisson 's equation in order to derive the corresponding screened Coulomb potential energy. That way atomic excitations and deformations of the fusing atoms can be taken into account. Those potentials are then treated semiclassically in order to obtain the screening (accelerating) factor of the reaction. By means of the proposed model the effect of a superstrong magnetic field on laboratory Hydrogen fusion reactions is investigated here for the first time showing that, despite the considerable increase in the cross section of the dd reaction, the pp reaction is still too slow to justify experimentation. The proposed model is finally applied on the H2 (d, p) H3 fusion reaction describing satisfactorily the experimental data although some ambiguity remains regarding the molecular nature of the deuteron target. Notably, the present method gives a sufficiently high screening energy for Hydrogen fusion reactions so that the take-away energy of the spectator nucleus can also be taken into account.
A study on the effect of wall paint emulsions on radon diffusion
Authors: Papachristodoulou C. A. , Ioannides K. G. , Stamoulis K. C. , Pafilis C. N.
Published: February 2020

Experiments have been carried out to study the effectiveness of several wall paints in preventing radon diffusion when applied on several substrates. Several products, widely used in the greek building industry have been tested and results related to different types of paint emulsions are presented. ·
On the nature of superdeformation
Authors: Anagnostatos G. S.
Published: February 2020

No abstract (available).
Quantum Groups in Nuclear Spectra and in Metal Clusters
Authors: Bonatsos Dennis , Kotsos B. A. , Raychev P. P. , Terziev P. A.
Published: February 2020

Quantum algebras (quantum groups), which are nonlinear generalizations of the usual Lie algebras, provide a rich variety of symmetries finding applications in the description of several physical systems [1]. Using irreducible tensor operators under sug(2) a rotationally invariant Hamiltonian which provides a good description of nuclear rotational spectra is constructed and its relation to existing nuclear models is considered. Using the same techniques a 3-dimensional ç-deformed harmonic oscillator with ug(3)Dsoq(3) symmetry is constructed, compared to the modified oscillator of Nilsson, and used for the successful description of magic numbers [2] and supershells [3] in metal clusters.
Cross sections of proton capture reactions of Sr isotopes
Authors: Galanopoulos S. , Demetriou P. , Kokkoris M. , Kriembardis G. , Harissopulos S. , Kunz R. , Fey M. , Hammer J. W. , Gyürky Gy. , Fülöp Zs. , Somorjai E. , Goriely S.
Published: February 2020

Cross section measurements of the proton capture reactions of the 86Sr, 87Sr and 88Sr isotopes were carried out at energies Ep=1.4-5 MeV. At Ep <3.5 MeV an array of 4 HPGe detectors with 100% relative efficiency shielded with BGO scintillators for Compton background suppression was used, whereas at Ep >3.5 MeV, the measurements were performed by means of one HPGe detector of 80% relative efficiency. For the 87Sr(p,7)88Y and 88Sr(p,7)89Y reactions total cross sections ranging from 0.5 μο-5 mb were found. The data analysis of the 86Sr(p,7)87Y reaction is in progress. Cross sections have also been calculated by means of the statistical model code MOST. A very good agreement between the experimental data and the theoretical predictions has been found.
Cross section measurements of the 7 8Se(p,7)7 9Br and 8 0Se(p,7)8 1Br reactions
Authors: Kriembardis G. , Galanopoulos S. , Demetriou P. , Harissopulos S. , Fey M. , Kunz R. , Hammer J. W. , Gyürky Gy. , Fülop Zs. , Somorjai E. , Julin R.
Published: February 2020

In beam cross section measurements of the 78Se(p,7)79Br and 80Se(p,7)81Br reactions have been carried out at Ep=1.4-3.5 MeV, by using high efficiency HPGe detectors with BGO shields for Compton background suppression. A preliminary analysis yielded total cross sections ranging from 10 μb to 3 mb. By means of the statistical compound nucleus theory of Hauser-Feshbach cross sections have also been calculated. A comparison between experimental data and theoretical predictions is presented.
Screening effects on resonant thermonuclear reaction rates
Authors: Liolios T. , Langanke K. , Wiescher W.
Published: February 2020

The reaction rate of several astrophysically important nuclear reactions is dominated by the contribution of narrow resonances at the astrophysically most effective energies. In the stellar plasma the partial width of the resonances in the entrance channel is modified due to screening corrections. This effect, so far ignored in stellar reaction network calculations, reduces the conventional Salpeterscreening enhancement of the reaction rate. We derive analytical screening correction factors for the contributions of narrow resonances to the stellar reaction rate and discuss the effects for UC (a, j)lsO, 150(a,7)19 Ne and other reactions of relevance to explosive hydrogen burning