bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of GABAergic neurons innervating the zebrafish lateral habenula
Authors: Ramaswamy Mahathi , Cheng Ruey‐Kuang , Jesuthasan Suresh
Published: May 2020

Habenula neurons are constantly active. The level of activity affects mood and behaviour, with increased activity in the lateral habenula reflecting exposure to punishment and a switch to passive coping and depression. Here, we identify GABAergic neurons that could reduce activity in the lateral habenula of larval zebrafish. GAD65/67 immunohistochemistry and imaging of gad1b:DsRed transgenic fish suggest the presence of GABAergic terminals in the neuropil and between cell bodies in the lateral habenula. Retrograde tracing with the lipophilic dye DiD suggests that the former derives from the thalamus, while the latter originates from a group of cells in the posterior hypothalamus that are located between the posterior tuberal nucleus and hypothalamic lobes. Two‐photon calcium imaging indicates that blue light causes excitation of thalamic GABAergic neurons and terminals in the neuropil, while a subpopulation of lateral habenula neurons show reduced intracellular calcium levels. Whole‐cell electrophysiological recording indicates that blue light reduces membrane potential of lateral habenula neurons. These observations suggest that GABAergic input from the thalamus may mediate inhibition in the zebrafish lateral habenula. Mechanisms governing release of GABA from the neurons in the posterior hypothalamus, which are likely to be in the tuberomammillary nucleus, remain to be defined.
Operation Crayweed: Ecological and sociocultural aspects of restoring Sydney’s underwater forests
Authors: Vergés Adriana , Campbell Alexandra H. , Wood Georgina , Kajlich Lana , Eger Aaron M. , Cruz Derrick , Langley Madelaine , Bolton Damon , Coleman Melinda A. , Turpin Jennifer , Crawford Michaelie , Coombes Nigel , Camilleri Adam , Steinberg Peter D. , Marzinelli Ezequiel M.
Published: May 2020

Operation Crayweed focuses on the restoration of underwater forests that disappeared from the coastline of Sydney, Australia’s largest city, 40 years previously. We show how a combination of science, hands‐on restoration, community engagement and art has helped the project to reach its goals as well as raise awareness about the importance of underwater kelp forests that are experiencing global decline.
Damage mechanics based probabilistic high‐cycle fatigue life prediction for Al 2024‐T3 using non‐intrusive polynomial chaos
Authors: Liu Xiaoran , Sun Qin
Published: May 2020

This paper proposes a low‐cost method for predicting probabilistic high‐cycle fatigue life for Al 2024‐T3 based on continuum damage mechanics and non‐intrusive polynomial chaos (NIPC). To randomize Lemaitre's two scale fatigue damage model, parameters S and s are regarded as random variables. Based on small sample of test life, inverse analysis is performed to obtain samples of the two parameters. Statistic characteristics of the two parameters are calculated analytically through coefficients of NIPC. Fatigue test of aluminum alloy 2024‐T3 standard coupon and plate with hole under different spectrum loading shows that the proposed method is effective.
Lower Glucose Level Associated With Increased Risk for Post‐Dural Puncture Headache
Authors: Hwang Jaechun , Lim Yong‐Hyun , Eun Mi‐Yeon , Jeon Ji‐Ye , Ko Pan‐Woo , Kim Sung‐Hee , Kang Kyunghun , Lee Ho‐Won , Park Jin‐Sung
Published: May 2020

Objective and Background

Post‐dural puncture headache is the most common significant adverse event following lumbar puncture. In this study, we investigated the possible systemic factors associated with risk for post‐dural puncture headache (PDPH).

Methods

We performed a retrospective cohort study in 969 patients who underwent diagnostic lumbar puncture following a standardized protocol. We compared the clinical and laboratory profiles of the post‐dural puncture headache group and non‐headache group. We also identified independent factors associated with the incidence of post‐dural puncture headache.

Results

A total of 48 patients (5%) reported headache; 12 of these patients (25%) received a therapeutic epidural blood patch and the remaining 36 patients improved with conservative treatment. After adjusting for other variables that could be related to PDPH, we found that the development of post lumbar puncture headache was independently associated with age (OR: 0.97, 95% CI: 0.95‐0.99, P = .001) and serum glucose levels (OR: 0.98, 95% CI: 0.97‐0.99, P = .008).When the patients were classified by age, serum glucose levels were persistently lower in patients with PDPH vs those patients without PDPH in all age groups, with more clearly significant differences observed in the elderly (age <30 years, 103.4 mg/dL vs 106.3 mg/dL, P = .716; >60 years, 111.8 mg/dL vs 137.3 mg/dL, P = .023).

Conclusions

Low glucose levels were inversely associated with risk for post‐dural puncture headache. Patients with low serum glucose should be carefully monitored for headache after lumbar puncture.
Artificially perforated single‐grain YBCO bulks: Dependence of superconducting properties on the bulk thickness
Authors: Antončík Filip , Lojka Michal , Hlásek Tomáš , Valiente‐Blanco Ignacio , Perez‐Diaz José L. , Jankovský Ondřej
Published: May 2020

A high and homogenous trapped field, as well as the levitation force of YBCO parts are the key properties in regard to practical applications of high‐temperature superconductors. Both of these parameters are often the determining factor in the bulk's performance. In this contribution, the impact of bulk thickness on the trapped field and levitation force was studied in detail. A number of significantly thicker samples both with and without artificial holes were prepared. The samples were manufactured using top‐seeded melt growth with a diameter of 28 mm and a thickness of 18 mm. An additional source of “liquid phase” was placed underneath the YBCO bulks during the TSMG process in order to negate the leakage of “liquid phase.” Properties of these samples were compared and to most similar samples with and without artificial holes were chosen to be gradually ground down. SEM was employed in order to confirm the impact of artificial holes on the microstructure. The samples were characterized between each individual grinding step. Using this approach, the dependency of the trapped field and levitation force, as well as the addition of artificial holes, can be properly evaluated. The method described above has allowed us to determine the optimal bulk geometries for various applications depending on the desired properties. Such data are of the utmost importance in the field of applied high‐temperature superconducting bulks.
Reply to Comment on: Antipsychotics and the Risk of Mortality or Cardiopulmonary Arrest in Hospitalized Adults
Authors: Basciotta Matthew , Herzig Shoshana J.
Published: May 2020

This letter comments on the letter by Kenneth Lam.
Long non‐coding RNA DNM3OS/miR‐204‐5p/HIP1 axis modulates oral cancer cell viability and migration
Authors: Fang Xiaodan , Tang Zhangui , Zhang Haixia , Quan Hongzhi
Published: May 2020

Background

Non‐coding RNAs play a critical role in the occurrence and development of oral cancer. The present study is aimed to identify long non‐coding RNA (lncRNA) that might be novel effective targets for the treatments of oral cancer and the underlying mechanism.

Methods

The microarray profiling and RNA‐sequencing analysis were performed to identify lncRNAs related to oral cancer development, and lncRNA DNM3OS was selected. DNM3OS knockdown was generated in cancer cell lines, and the specific effects of DNM3OS knockdown on cell phenotype were examined. DNM3OS targeted miRNA and miRNA targeted downstream mRNA were selected, the predicted bindings were verified, and the specific effects of miRNA on oral cancer cells were examined. Finally, the dynamic effects of DNM3OS and miRNA on target mRNA expression and oral cancer cell phenotype were examined.

Results

DNM3OS was upregulated in oral cancer tissues and cells. DNM3OS knockdown in CAL27 and SCC‐9 cells inhibited cell viability and migration. DNM3OS targeted miR‐204‐5p to inhibit miR‐204‐5p expression. miR‐204‐5p overexpression suppressed oral cancer cell aggressiveness. miR‐204‐5p targeted HIP1 to inhibit HIP1 expression. HIP1 knockdown inhibited oral cancer cell viability and migration. The effects of DNM3OS knockdown were significantly reversed by miR‐204‐5p inhibition. Within oral carcinoma tissue samples, expression of DNM3OS and HIP1 was increased whereas the miR‐204‐5p expression was downregulated; miR‐204‐5p had a negative correlation with DNM3OS and HIP1, respectively, while DNM3OS and HIP1 were positively correlated with each other.

Conclusion

Long non‐coding RNA DNM3OS, miR‐204‐5p, and HIP1 form an axis that modulates oral cancer cell viability and migration.
Assessment of Brix refractometry to estimate immunoglobulin G concentration in beef cow colostrum
Authors: Gamsjäger Lisa , Elsohaby Ibrahim , Pearson Jennifer M. , Levy Michel , Pajor Edmond A. , Haines Deborah M. , Windeyer M. Claire
Published: May 2020

Background

Brix refractometry can be used to assess colostral immunoglobulin G (IgG) concentration, but studies identifying Brix percentages to detect high‐ and low‐IgG colostrum are lacking for beef cows and interlaboratory agreement is unknown.

Objectives

Evaluate Brix refractometer performance and interlaboratory agreement for assessing beef cow colostrum IgG concentration, including determination of thresholds to identify colostrum containing IgG concentrations <100 g/L and ≥150 g/L.

Animals

Beef cows (n = 416) from 11 cow‐calf operations in Alberta, Canada.

Methods

Colostral IgG concentrations were measured using radial immunodiffusion (RID) and estimated by Brix refractometry for this retrospective study. Spearman correlation coefficients were assessed between RID and Brix refractometry. Likelihood ratios and misclassification cost‐term analysis were used to determine optimal Brix percentages for detecting colostrum containing IgG concentrations <100 g/L and ≥150 g/L. Concordance correlation coefficient (CCC) and Bland‐Altman analyses were performed for Brix percentages obtained at 3 different laboratories.

Results

Brix percentages obtained at 3 laboratories were positively correlated with IgG results (r = 0.72, 0.68, and 0.76, respectively). Colostrum Brix percentages of <24% and ≥30% were optimal for indicating IgG concentrations of <100 g/L and ≥150 g/L, respectively. Interlaboratory agreement was substantial, with CCC ranging from 0.89 to 0.96 and Bland‐Altman analysis showing small mean differences (−1.2% to 0.09% Brix) and narrow limits of agreements (−4.8% to 2.4% Brix) among laboratories.

Conclusions and Clinical Importance

Brix refractometry shows good potential for reliably estimating IgG concentrations in beef cow colostrum across multiple laboratories and can be recommended to aid colostrum management decisions on farms.
Using simulation to evaluate exam scores in a public health nursing course
Authors: Reaves Régine Placide , McEwing Evan M. , Matsuda Yui , Everett‐Thomas Ruth
Published: May 2020

Objective

Public health nursing courses typically incorporate clinical components but rarely offer simulation education as part of clinical practice. There is limited research examining the impact of simulation for public health nursing courses on final exam scores. The objective of this study was to determine the impact of simulation training on final exam scores in a public health nursing course.

Design

Public health scenarios were created to provide hands‐on experience in two settings. Home and school environments were used with discussion of students’ performance during debriefing.

Sample

Using a convenience sample, final exam scores were compared between nursing students (n = 79) who participated in a public health nursing simulation and two similar student groups (n = 97) that did not participate in simulation.

Results

Students with simulation training scored higher in both public health domains (Community Health; Clinical Prevention and Population Health). A significant difference in total mean final scores (p = .04; p = .02) was noted between groups of students with simulation training and those without.

Conclusion

The difference in mean final scores suggests that simulation may be an effective educational modality in preparing students toward their state board or end of semester exams.
Phosphorus availability and grass growth in biochar‐modified acid soil: A study excluding the effects of soil pH
Authors: Fonseca Aymbiré Angeletti , Santos Danilo Andrade , Passos Renato Ribeiro , Andrade Felipe Vaz , Rangel Otacílio José Passos
Published: May 2020

The low efficiency of phosphorus fertilization in weathered soils can limit plant development. The application of biochars in these areas has been seen as an important way to increase the efficiency of phosphorus fertilization and to promote better plant growth. However, biochars are alkaline materials that can increase soil pH and thus change the nutrient dynamics, which has been often ignored in studies of this nature. Here, all treatments had their pH standardized at 6.1 to eliminate the influence of pH on biochar application responses. The main goal of this study was to evaluate the real potential of coffee straw and eucalyptus bark biochars, produced under different pyrolysis temperatures, in the optimization of phosphorus fertilization and the development of Brachiaria brizantha. A greenhouse experiment was set up in a 2 × 2 × 5 factorial scheme, conducted for 120 days. The biochars, prepared from coffee straw and eucalyptus bark at 350 and 600°C, were applied at five rates in a Red‐Yellow Oxisol. The application of biochars may reduce the demand for nutrients and correctives, optimize phosphorus fertilization and improve the development of Brachiaria brizantha, but this ability depends on the raw material and the pyrolysis temperature used in its production. All analysed biochars can contribute to higher tillering and dry matter production, but only coffee straw biochars and eucalyptus bark biochar produced at 350°C were efficient in the optimization of phosphorus fertilization until 120 days of cultivation of Brachiaria brizantha.
Characterization of the novel HLA‐A*11:361 allele by sequencing‐based typing
Authors: Cargou Marine , Elsermans Vincent , Top Isabelle , Guidicelli Gwendaline , Visentin Jonathan
Published: May 2020

HLA‐A*11:361 differs from HLA‐A*11:01:01:01 by one nucleotide substitution in codon 138 in exon 3.
An unusual presentation of a retroperitoneal tumor – CEUS characterization and outcome
Authors: Gliga Mirela Liana , Chirila Paula Maria , Gliga Mihail Gheorghe , Gomotirceanu Adriana Maria , Tilea Ioan , Chirila Cristian Nicolae
Published: May 2020

We present a case of a 51-year-old woman referred to our department for unspecific abdominal pain. Two hypoechoic focal lesions in the retroperitoneal space and one hypoechoic mass superficially located in the mesogastrium were found at ultrasound (US) examination. All three masses were characterized as malignant by using contrast enhanced ultrasound (CEUS), due to the rapid hyperenhancement pattern followed by rapid wash-out. Laparoscopic biopsies revealed the final positive diagnosis of Burkitt lymphoma and hematologic treatment was immediately initiated.
Ionization probability of sputtered indium atoms under impact of slow highly charged ions
Authors: Herder Matthias , Ernst Philipp , Skopinski Lucia , Weidtmann Boris , Schleberger Marika , Wucher Andreas
Published: May 2020

In order to investigate the different role of kinetic and potential projectile energy for secondary ion formation, the authors have measured the ionization probability of indium atoms sputtered from a clean indium surface under irradiation with rare gas (Xeq+) ions of different charge states q at the same kinetic impact energy of 20 keV. In this energy range, the kinetic energy of the projectile is predominantly deposited via nuclear stopping, leading to a collision-dominated sputtering process. The authors find that the ionization probability increases significantly if a highly charged ion is used as a projectile, where the ionization energy becomes comparable to or even exceeds the kinetic energy, indicating that a higher level of electronic substrate excitation induced by the potential energy stored in the projectile can boost the secondary ion formation process. This experimental result is discussed in terms of microscopic model calculations describing the secondary ion formation process. At the same time, the authors observe a significant change of the emission velocity distribution of the sputtered particles, leading to a pronounced low-energy contribution at higher projectile charge states. It is shown that this “potential sputtering” contribution strongly depends on surface chemistry even under conditions where the surface is dynamically cleaned by interleaved 5 keV Ar+ ion bombardment.
A Communal Language for Decision Making in Team Invasion Sports
Authors: Ashford Michael , Abraham Andrew , Poolton Jamie
Published: May 2020

Invasion team sports coaches are faced with the problem of developing players who, in any given situation, can make decisions that lead to successful outcomes. Research into human decision making has established three widely accepted perspectives, which sports coaching has used to understand player decision making and inform practice:information processing, ecological psychology, andnaturalistic decision making. As a result, coaches are challenged with perspective-specific terminology and having to draw connections between similar findings that are explained in quite different ways. This conceptual paper presents a plainer account of player decision making by proposing a communal language within a conceptual framework for decision making in invasion team sports. It is hoped that the proposed language and framework will, together, facilitate knowledge exchange between researchers and coaches for the betterment of player development.
Two-year-old girl with metabolic acidosis and hyperkalaemia
Authors: Patti Giuseppa , Palazzo Viviana , Pagliazzi Angelica , Confalonieri Laura , Di Iorgi Natascia
Published: May 2020

Hyperkalaemia hypertension and metabolic acidosis in children can pose a challenge of both diagnosis and management. This case chronicles the diagnostic journey of a 2-year-old girl with hyperkalaemia associated with hypertension and metabolic acidosis accidentally detected during a viruses.
Multiorganism sepsis secondary to enteric aorto-iliac graft fistulation
Authors: Gatt Kelly , Ellul Pierre , Schembri John
Published: May 2020

A woman in her early 70s with a history of infrarenal aortic endarterectomy and aorto-bi-iliac Dacron grafting 4 years before presented with recurrent septicaemias, occasionally polymicrobial and caused by a wide variety of organisms. After treatment for her sixth bacteraemia, enteroscopy showed a small area of ulceration with synthetic graft material protruding into the distal duodenal lumen. This was followed by positron emission tomography/CT, which showed mild increase in tracer uptake in the same region localised by a previously placed haemoclip. Despite urgent vascular surgery to repair the duodenal fistulas and replace the grafts, the patient passed away. Our patient posed a diagnostic challenge due to repeated imaging studies of different modalities and routine endoscopy failing to show a source of sepsis. It is unique due to the variety of organisms cultured as a result of the enteric fistula.
Finegoldia magna: a rare cause of necrotising fasciitis
Authors: Begaj Ardit , McLean Ross C , Bhaskar Pudhupalayam
Published: May 2020

Necrotising fasciitis is a life-threatening condition characterised by inflammation, affecting the soft tissues, which spreads within a fascial plane. Skin changes can be delayed and can often go unnoticed. The condition arises from a bacterial infection, commonly being of polymicrobial aetiology. We describe an uncommon case of necrotising fasciitis caused byFinegoldia magna, an anaerobic coccus, in a 40-year-old patient with diabetes.F. magnais a Gram-positive anaerobic coccus, which was previously known asPeptostreptococcus magnus. The bacteria is found in the normal flora of the urogenital tract. The bacteria is associated with severe infections such as native valve endocarditis, paravalvular abscess around a bioprosthetic valve, purulent pericarditis complicated by mediastanitis, meningitis after pneumonia and necrotising pneumonia complicated by pyopneumothorax. There have been no cases in the literature describing necrotising fasciitis of the abdominal wall caused byF. magna.
Is Physiological Equivalent Temperature (PET) a superior screening tool for heat stress risk than Wet-Bulb Globe Temperature (WBGT) index? Eight years of data from the Gothenburg half marathon
Authors: Thorsson Sofia , Rayner David , Palm Gunnar , Lindberg Fredrik , Carlström Eric , Börjesson Mats , Nilson Finn , Khorram-Manesh Amir , Holmer Björn
Published: May 2020

Background

The Wet-Bulb Globe Temperature (WBGT) index is a common tool to screen for heat stress for sporting events. However, the index has a number of limitations. Rational indices, such as the physiological equivalent temperature (PET) and Universal Thermal Climate Index (UTCI), are potential alternatives.

Aim

To identify the thermal index that best predicts ambulance-required assistances and collapses during a city half marathon.

Methods

Eight years (2010–2017) of meteorological and ambulance transport data, including medical records, from Gothenburg’s half-marathon were used to analyse associations between WBGT, PET and UTCI and the rates of ambulance-required assistances and collapses. All associations were evaluated by Monte-Carlo simulations and leave-one-out-cross-validation.

Results

The PET index showed the strongest correlation with both the rate of ambulance-required assistances (R2=0.72, p=0.008) and collapses (R2=0.71, p=0.008), followed by the UTCI (R2=0.64, p=0.017; R2=0.64, p=0.017) whereas the WBGT index showed substantially poorer correlations (R2=0.56, p=0.031; R2=0.56, p=0.033). PET stages of stress, match the rates of collapses better that the WBGT flag colour warning. Compared with the PET, the WBGT underestimates heat stress, especially at high radiant heat load. The rate of collapses increases with increasing heat stress; large increase from the day before the race seems to have an impact of the rate of collapses.

Conclusion

We contend that the PET is a better predictor of collapses during a half marathon than the WBGT. We call for further investigation of PET as a screening tool alongside WBGT.
Emergency department ‘outbreak rostering’ to meet challenges of COVID-19
Authors: Chua Wei Lin Tallie , Quah Li Juan Joy , Shen Yuzeng , Zakaria Nur Diana , Wan Paul Weng , Tan Kenneth , Wong Evelyn
Published: May 2020

The COVID-19 outbreak has posed unique challenges to the emergency department rostering. Additional infection control, the possibility of quarantine of staff and minimising contact among staff have significant impact on the work of doctors in the emergency department. Infection of a single healthcare worker may require quarantine of close contacts at work. This may thus affect a potentially large number of staff. As such, we developed an Outbreak Response Roster. This Outbreak Response Roster had fixed teams of doctors working in rotation, each team that staff the emergency department in turn. Members within teams remained constant and were near equally balanced in terms of manpower and seniority of doctors. Each team worked fixed 12 hours shifts with as no overlapping of staff or staggering of shifts. Handovers between shifts were kept as brief as possible. All these were measures to limit interactions among healthcare workers. With the implementation of the roster, measures were also taken to bolster the psychological wellness of healthcare workers. With face-to-face contact limited, we also had to maintain clear, open channels for communication through technology and continue educating residents through innovative means.
Guidelines on the use of liver biopsy in clinical practice from the British Society of Gastroenterology, the Royal College of Radiologists and the Royal College of Pathology
Authors: Neuberger James , Patel Jai , Caldwell Helen , Davies Susan , Hebditch Vanessa , Hollywood Coral , Hubscher Stefan , Karkhanis Salil , Lester Will , Roslund Nicholas , West Rebecca , Wyatt Judith I , Heydtmann Mathis
Published: May 2020

Liver biopsy is required when clinically important information about the diagnosis, prognosis or management of a patient cannot be obtained by safer means, or for research purposes. There are several approaches to liver biopsy but predominantly percutaneous or transvenous approaches are used. A wide choice of needles is available and the approach and type of needle used will depend on the clinical state of the patient and local expertise but, for non-lesional biopsies, a 16-gauge needle is recommended. Many patients with liver disease will have abnormal laboratory coagulation tests or receive anticoagulation or antiplatelet medication. A greater understanding of the changes in haemostasis in liver disease allows for a more rational, evidence-based approach to peri-biopsy management. Overall, liver biopsy is safe but there is a small morbidity and a very small mortality so patients must be fully counselled. The specimen must be of sufficient size for histopathological interpretation. Communication with the histopathologist, with access to relevant clinical information and the results of other investigations, is essential for the generation of a clinically useful report.
Significance of PI3K signalling pathway in clear cell renal cell carcinoma in relation to VHL and HIF status
Authors: Tumkur Sitaram Raviprakash , Landström Maréne , Roos Göran , Ljungberg Börje
Published: May 2020

Renal cell carcinoma (RCC) includes diverse tumour types characterised by various genetic abnormalities. The genetic changes, like mutations, deletions and epigenetic alterations, play a crucial role in the modification of signalling networks, tumour pathogenesis and prognosis. The most prevalent RCC type, clear cell RCC (ccRCC), is asymptomatic in the early stages and has a poorer prognosis compared with the papillary and the chromophobe types RCCs. Generally, ccRCC is refractory to chemotherapy and radiation therapy. Loss of von Hippel-Lindau (VHL) gene and upregulation of hypoxia-inducible factors (HIF), the signature of most sporadic ccRCC, promote multiple growth factors. Hence, VHL/HIF and a variety of pathways, including phosphatase and TEnsin homolog on chromosome 10/phosphatidylinositol-3-kinase (PI3K)/AKT, are closely connected and contribute to the ontogeny of ccRCC. In the recent decade, multiple targeting agents have been developed based on blocking major signalling pathways directly or indirectly involved in ccRCC tumour progression, metastasis, angiogenesis and survival. However, most of these drugs have limitations; either metastatic ccRCC develops resistance to these agents, or despite blocking receptors, tumour cells use alternate signalling pathways. This review compiles the state of knowledge about the PI3K/AKT signalling pathway confined to ccRCC and its cross-talks with VHL/HIF pathway.
Analysis of genotype–phenotype correlations in PAX6-associated aniridia
Authors: Vasilyeva Tatyana A. , Marakhonov Andrey V. , Voskresenskaya Anna A. , Kadyshev Vitaly V. , Käsmann-Kellner Barbara , Sukhanova Natella V. , Katargina Lyudmila A. , Kutsev Sergey I. , Zinchenko Rena A.
Published: May 2020

Background

Aniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the PAX6 gene in a heterozygous state. Patients with aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary in severity and combination.

Methods

A cohort of 155 patients from 125 unrelated families with identified point PAX6 pathogenic variants (118 patients) or large chromosomal 11p13 deletions (37 patients) was analyzed. Genetic causes were divided into 6 types. The occurrence of 6 aniridic eye anomalies was analyzed. Fisher’s exact test was applied for 2×2 contingency tables assigning numbers of patients with/without each sign and each type of the PAX6 variants or 11p13 deletions with Benjamini–Hochberg correction. The age of patients with different types of mutation did not differ.

Results

Patients with 3′-cis-regulatory region deletions had a milder aniridia phenotype without keratopathy, nystagmus, or foveal hypoplasia. The phenotypes of the patients with other rearrangements involving 11p13 do not significantly differ from those associated with point pathogenic variants in the PAX6 gene. Missense mutations and genetic variants disrupting splicing are associated with a severe aniridia phenotype and resemble loss-of-function mutations. It is particularly important that in all examined patients, PAX6 mutations were found to be associated with multiple eye malformations. The age of patients with keratopathy, cataract, and glaucoma was significantly higher than the age of patients without these signs.

Conclusion

We got clear statistically significant genotype-phenotype correlations in congenital aniridia and evident that aniridia severity indeed had worsened with age.
Arterial complications in classical Ehlers-Danlos syndrome: a case series
Authors: Angwin Chloe , Brady Angela F , Pope F Michael , Vandersteen Anthony , Baker Duncan , Cheema Harveer , Sobey Glenda , Johnson Diana , von Klemperer Kate , Kazkaz Hanadi , van Dijk Fleur , Ghali Neeti
Published: May 2020

Background

The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of vascular EDS although individual cases of arterial events in cEDS have been reported.

Methods

A cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed.

Results

Seven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in COL5A1) who had experienced arterial complications were identified. Arterial complications mostly involved medium-sized vessels and also two abdominal aortic aneurysms. No unique clinical features were identified in this group of patients.

Conclusion

There is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient’s history and their family’s history of vascular events.
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population
Authors: Dong Hui , Chandratre Khyati , Qin Yue , Zhang Jing , Tian Xiaoqing , Rong Ce , Wang Ning , Guo Maoni , Zhao Guoping , Wang San Ming
Published: May 2020

Background

Pathogenic variation inBRCA1andBRCA2(BRCA) is one of the most frequent genetic predispositions for hereditary breast cancer. The identification of the variant carriers plays an important role in prevention and treatment of cancer. Despite a population size of 1.4 billion and a quarter million annual new breast cancer cases, knowledge regarding the prevalence ofBRCAvariation in the Chinese population remains elusive.

Methods

In this study, we usedBRCA-targeted sequencing and bioinformatics approaches to screen forBRCAvariants in 11 386 Chinese Han individuals, including 9331 females and 2055 males.

Results

We identified 1209BRCAvariants, 34 of which were pathogenic, including 11 inBRCA1and 23 inBRCA2. These variants were distributed among 43 individuals (37 females and 6 males), with 13 carryingBRCA1and 30 carryingBRCA2variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of aBRCApathogenic variant out of every 265 Chinese Han individuals, and 5.1 million carriers among the Chinese Han population of 1.3 billion.

Conclusion

Our study provides basic knowledge about the prevalence ofBRCApathogenic variation in the Chinese Han population. This information should be valuable forBRCA-related cancer prevention and treatment in the population.
Ethical guidelines for deliberately infecting volunteers with COVID-19
Authors: Richards Adair D
Published: May 2020

Global fatalities related to COVID-19 are expected to be high in 2020–2021. Developing and delivering a vaccine may be the most likely way to end the pandemic. If it were possible to shorten this development time by weeks or months, this may have a significant effect on reducing deaths. Phase II and phase III trials could take less long to conduct if they used human challenge methods—that is, deliberately infecting participants with COVID-19 following inoculation. This article analyses arguments for and against such methods and provides suggested broad guidelines for regulators, researchers and ethics committees when considering these matters. It concludes that it may be possible to maintain current ethical standards yet still permit human challenge trials in a context where delay is critical. The implications are that regulators and researchers need to work together now to design robust but short trials and streamline ethics approval processes so that they are in place when applications for trials are made.
New-media arts-based public engagement projects could reshape the future of the generative biology
Authors: Ahmedien Diaa Ahmed Mohamed
Published: May 2020

Research in the sciences of new-media arts aims to develop original research questions and borrows many different interdisciplinary research methodologies that often involve collaboration with professionals from non-art fields to provide real investigations. Over the last four decades, new-media arts provided unlimited strategies to integrate the laypeople into real interactive conversations allowing them to express their opinions and reflect their concerns regarding boundless scientific, environmental, political and ethical issues. Within this context, this article illustrates the parallel and growing attention to perform effective joint public engagement projects between both new-media arts and biological science domains and how biological science could benefit from the new-media arts projects to allow the laypeople to actively participate in decision-making processes regarding critical biological issues that seek more open and democratic biological investigations. This article, therefore, monitors the developments of public engagement as a concept in biological sciences and its practical principles, which they have been enhanced under the influence of today’s new-media arts strategies of engagement. As an extension of the existed efforts, the article, finally, highlighted one of the most recent international conversation led by the author regarding an assumed new-media arts protocol to use stem cells in new-media arts labs and the role of such protocol to secure the highest standard level of public engagement, by which the laypeople could control and reshape the future of generative biology and personalised medicine.
Factors Influencing the Use of Smartphones for Programing: A Structural Equation Modeling Approach
Authors: Alwabel Asim Suleman A. , Al-Gahtani Said S. , Talab Ahmed
Published: May 2020

The ubiquitous application of smartphones and their advanced development have created an opportunity for using them as coding platforms. In this study, we compared between the use of personal computers (PCs) and smartphones to investigate the factors affecting the use of smartphones in programing. The behavioral intentions of smartphone end-users are inspired by the ease of use perception, enjoyment perception, programing anxiety, perception of external control, and smartphone design aesthetics. Although the [Formula: see text] value of the smartphone model was lower than that of the PC model, the end-users’ adoption decisions could have shifted toward accepting the use of smartphones for programing had their decisions been free of enforcement. In this study, design aesthetics and programing anxiety were introduced to Technology Acceptance Model 3 in an Arabic environment. Additionally, the model was creatively applied for guiding practitioners in two situations. First, when organizations are in the quest for emerging technology to replace the legacy technology, they might apply the presented side-by-side comparison of the use of PCs with that of smartphones in programing. Second, at a time when decision makers analyze what might hinder the adoption of a recently introduced technology, the model can be a successful hand tool guiding the top management in identifying technology acceptance interventions, an approach this research revealed. Furthermore, in this paper, the research implications and recommendations are presented for technology practitioners and designers.
Novel catheter design enables transurethral catheterization of male mice
Authors: Lamanna Olivia K. , Hsieh Michael H. , Forster Catherine S.
Published: May 2020

The male mouse is underrepresented in research of the urinary tract due to the difficulty of transurethral catheterization. As a result, there is a lack of analysis of sex differences in urinary tract research. Here, we present a novel catheter design and technique that enables urethral catheterization of male mice for bladder inoculation. Our catheterization technique uses the resistance met at the level of the external urinary sphincter and prostate to guide the retraction, positioning, and advancement of the catheter into the urinary bladder. We have shown that this method can be used to reproducibly catheterize 12 male mice with minimal urogenital trauma but cannot be used as a cystometric technique. This method will facilitate the expansion of research into sex differences in various genitourinary conditions that require transurethral catheterization of mice.
Differential effects of low-dose sacubitril and/or valsartan on renal disease in salt-sensitive hypertension
Authors: Polina Iuliia , Domondon Mark , Fox Rebecca , Sudarikova Anastasia V. , Troncoso Miguel , Vasileva Valeriia Y. , Kashyrina Yuliia , Gooz Monika Beck , Schibalski Ryan S. , DeLeon-Pennell Kristine Y. , Fitzgibbon Wayne R. , Ilatovskaya Daria V.
Published: May 2020

Diuretics and renin-angiotensin system blockers are often insufficient to control the blood pressure (BP) in salt-sensitive (SS) subjects. Abundant data support the proposal that the level of atrial natriuretic peptide may correlate with the pathogenesis of SS hypertension. We hypothesized here that increasing atrial natriuretic peptide levels with sacubitril, combined with renin-angiotensin system blockage by valsartan, can be beneficial for alleviation of renal damage in a model of SS hypertension, the Dahl SS rat. To induce a BP increase, rats were challenged with a high-salt 4% NaCl diet for 21 days, and chronic administration of vehicle or low-dose sacubitril and/or valsartan (75 μg/day each) was performed. Urine flow, Na+excretion, and water consumption were increased on the high-salt diet compared with the starting point (0.4% NaCl) in all groups but remained similar among the groups at the end of the protocol. Upon salt challenge, we observed a mild decrease in systolic BP and urinary neutrophil gelatinase-associated lipocalin levels (indicative of alleviated tubular damage) in the valsartan-treated groups. Sacubitril, as well as sacubitril/valsartan, attenuated the glomerular filtration rate decline induced by salt. Alleviation of protein cast formation and lower renal medullary fibrosis were observed in the sacubitril/valsartan- and valsartan-treated groups, but not when sacubitril alone was administered. Interestingly, proteinuria was mildly mitigated only in rats that received sacubitril/valsartan. Further studies of the effects of sacubitril/valsartan in the setting of SS hypertension, perhaps involving a higher dose of the drug, are warranted to determine if it can interfere with the progression of the disease.
On the Convergence of a Crank–Nicolson Fitted Finite Volume Method for Pricing American Bond Options
Authors: Gan Xiaoting , Xu Dengguo
Published: May 2020

This paper develops and analyses a Crank–Nicolson fitted finite volume method to price American options on a zero-coupon bond under the Cox–Ingersoll–Ross (CIR) model governed by a partial differential complementarity problem (PDCP). Based on a penalty approach, the PDCP results in a nonlinear partial differential equation (PDE). We then apply a fitted finite volume method for the spatial discretization along with a Crank–Nicolson time-stepping scheme for the PDE, which results in a nonlinear algebraic equation. We show that this scheme is consistent, stable, and monotone, and hence, the convergence of the numerical solution to the viscosity solution of the continuous problem is guaranteed. To solve the system of nonlinear equations effectively, an iterative algorithm is established and its convergence is proved. Numerical experiments are presented to demonstrate the accuracy, efficiency, and robustness of the new numerical method.
Extension of Spencer’s Circular Model to Stability Analysis of Landslides with Multicircular Slip Surfaces
Authors: Fan Zhiqiang , Tang Huiming , Yang Yingming , Zheng Yanhao , Tan Qinwen , Wen Tao
Published: May 2020

This paper presents a new limit equilibrium method based on analysis of landslides with multicircular slip surfaces in the Three Gorges Reservoir area, China. An important innovation of this method is that the rigid sliding mass is divided into numerous interrelated Spencer’s circles sharing the same factor of stability, so that each of them possesses a real centre of rotation and an independent inclination of interslice forces. The analysis is accomplished by iterations to satisfy both force and moment equilibrium for each circle. Two real cases were then adopted to verify the effectiveness of the method in the analysis of both slope stability and the design forces on piles. Factors influencing the performance of the method were also investigated, which reveal that the concavity of the local slip surface near the slope toe has a major impact. The importance of the proximity between the actual and the fitted sliding surfaces was highlighted for ensuring accuracy of the method when extended to the real cases.
Selenium Supplementation, Body Mass Composition, and Leptin Levels in Patients with Obesity on a Balanced Mildly Hypocaloric Diet: A Pilot Study
Authors: Cavedon Elisabetta , Manso Jacopo , Negro Isabella , Censi Simona , Serra Roberto , Busetto Luca , Vettor Roberto , Plebani Mario , Pezzani Raffaele , Nacamulli Davide , Mian Caterina
Published: May 2020

Background. Adequate levels of selenium (Se) have protective effects against several chronic diseases, such as obesity. The aim of this study was to assess the effect of Se supplementation in a selected group of patients with obesity. Methods. This randomized prospective study included 37 overweight/obese individuals aged 18–65 years, who adopted a slightly hypocaloric diet for 3 months. An intervention group received 240 μg/day of L-selenomethionine for 3 months; a control group received a placebo. Clinical and biochemical parameters, body composition measurements, and the Psychological General Well-Being Index (PGWBI) questionnaire were tested at the beginning and end of the treatment. Results. A comparison of the two groups showed a significant change in body composition, involving a decrease in body fat mass, between the baseline and the end of the follow-up, in the intervention group. Unlike the placebo group, the group given Se had a significant increase in lean body and muscle mass and a significant decrease in leptin levels after 3 months on diet. At the end of the follow-up, the group given Se scored higher on the PGWBI than those who did not. Conclusion. Se could reinforce the effects of diet for overweight and obesity. This work was registered in the ISRCTN registry with study ID ISRCTN6106073.
Unruptured Multiple Sinus of Valsalva Aneurysms
Authors: Omeh Demian J. , Makaryus Amgad N.
Published: May 2020

Sinus of Valsalva aneurysm (SVA) is a rare cardiac condition occurring in about 0.09% of the general population, with potential for grave complications. Unruptured sinus of Valsalva aneurysms of all three sinuses in the same patient are even more rare. There are congenital, inherited, or acquired causes. Noninvasive cross-sectional imaging modalities, consisting of color Doppler echocardiography, cardiac computed tomographic angiography (CCTA), and cardiac magnetic resonance imaging (MRI), make the diagnosis. Treatment is mainly by open surgical reconstruction. However, transcatheter techniques are gaining popularity with noninferior outcomes in selected cases. We report the diagnosis and successful management of a patient with an unusual presentation of multiple unruptured SVAs of all three sinuses, and we conducted a review of the English medical literature.
Synthesis of Novel Selenocyanates and Evaluation of Their Effect in Cultured Mouse Neurons Submitted to Oxidative Stress
Authors: Frizon Tiago E. A. , Cararo José H. , Saba Sumbal , Dal-Pont Gustavo C. , Michels Monique , Braga Hugo C. , Pimentel Tairine , Dal-Pizzol Felipe , Valvassori Samira S. , Rafique Jamal
Published: May 2020

Herein, we report the synthesis of novel selenocyanates and assessment of their effect on the oxidative challenge elicited by hydrogen peroxide (H2O2) in cultured mouse neurons. First, α-methylene-β-hydroxy esters were prepared as precursors of allylic bromides. A reaction involving the generated bromides and sodium selenocyanate was conducted to produce the desired selenocyanates (3a-f). We next prepared cultures of neurons from 7-day-old mice (n=36). H2O2 (10-5 M) was added into the culture flasks as an oxidative stress inducer, alone or combined with one of each designed compounds. (PhSe)2 was used as a positive control. It was carried out assessment of lipid (thiobarbituric acid reactive species, 4-hydroxy-2′-nonenal, 8-isoprostane), DNA (8-hydroxy-2′-deoxyguanosine), and protein (carbonyl) modification parameters. Finally, catalase and superoxide dismutase activities were also evaluated. Among the compounds, 3b, 3d, and 3f exhibited the most pronounced pattern of antioxidant activity, similar to (PhSe)2. These novel aromatic selenocyanates could be promising to be tried in most sophisticated in vitro studies or even at the preclinical level.
Licochalcone a Induces ROS‐Mediated Apoptosis through TrxR1 Inactivation in Colorectal Cancer Cells
Authors: Wu Peng , Yu Ting , Wu Jun , Chen Junfeng
Published: May 2020

Licochalcone A (LCA) exhibited anticancer activity through modulating reactive oxygen species (ROS) levels in some cancer cells and has been evidenced to suppress colorectal cancer (CRC) formation and progression. However, whether LCA mediates the progression of CRC by regulating ROS production remains unclear. To address this, HCT‐116 cells were treated with LCA, resulting in G0/G1 phase arrest, apoptosis, and high ROS generation, which were attenuated by N‐acetyl‐L‐cysteine, a ROS inhibitor. In addition, LCA suppressed the expression of thioredoxin reductase 1 (TrxR1) in HCT‐116 cells, leading to high ROS levels and apoptosis. Moreover, LCA administration combined with TrxR1 inhibition further enhanced the production of ROS and apoptosis in HCT‐116 cells compared to LCA administration or TrxR1 inhibition alone. These results demonstrated that LCA might enhance the production of ROS by targeting TrxR1, leading to apoptosis in HCT‐116 cells, which provides potential insight for the interventional treatment of CRC.