bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa
Authors: Mittwollen R. , Wohlfart S. , Park J. , Grosch E. , Has C. , Hohenester E. , Schneider H. , Hammersen J. 
Published: March 2020

AbstractBackgroundA lack or dysfunction of the anchoring protein laminin‐332 in the basement membrane leads to the skin blistering disorder junctional epidermolysis bullosa (JEB). The mutation c.628G>A in the gene LAMB3 encoding the laminin β3‐chain is associated with generalized intermediate JEB; it may introduce an amino acid substitution (p.Glu210Lys) or disrupt splicing.ObjectiveThis retrospective study aimed at determining the effects of aberrant splicing on the JEB phenotype.MethodsLAMB3 transcription was analysed in two siblings compound heterozygous for the LAMB3 mutations p.Glu210Lys and p.Arg635* with a diverging JEB phenotype from late childhood on. Laminin‐332 levels in skin sections and in cultured keratinocytes were investigated by immunofluorescence staining. Real‐time PCR was used to quantify LAMB3 expression in keratinocytes. RNA splice variants were identified by subcloning of a LAMB3 cDNA fraction and subsequent DNA sequencing. Structural models of laminin‐332 helped to assess the impact of certain mutations on laminin‐332 folding.ResultsBoth siblings showed diminished LAMB3 expression. Laminin‐332 was equally reduced in skin sections obtained during infancy but differed in keratinocytes isolated during adolescence. Although aberrant LAMB3 splicing with 26 variants was detected in both patients, splicing differed significantly: the full‐length LAMB3 transcript harbouring the p.Glu210Lys mutation was found more often in the patient affected less severely (14/108 vs. 5/106 clones; P = 0.03). Structural modelling predicted that several deletions in LAMB3, but not the point mutation p.Glu210Lys, have an effect on laminin‐332 folding and secretion.ConclusionsDifferential LAMB3 mRNA splicing in the patients may explain the disparate JEB phenotype. By elucidating the regulation of laminin‐332 gene expression, these findings may contribute to the development of therapeutic strategies for JEB and might help to understand phenotype modification by splice‐site mutations in other hereditary diseases.
The effect of information disclosure on demand for high‐load insurance
Authors: Ragin Marc A. , Collier Benjamin L. , Jaspersen Johannes G. 
Published: March 2020

AbstractEconomists, regulators, and consumer protection agencies have highlighted the welfare losses for consumers who purchase high‐load insurance against modest stakes risks. Mandatory information disclosure is a potentially attractive public policy tool that might improve consumers' choices, but has not been widely tested in insurance settings. We conduct an incentive‐compatible insurance demand experiment, in which we manipulate the information disclosed to subjects. We test whether any of the three most commonly suggested disclosures affect insurance demand, disclosing either (1) the true probability of loss, (2) the contract's expected loss, or (3) the insurer's profit on the transaction. Similar to consumers in naturally occurring insurance markets, subjects in the laboratory demonstrate significant demand for high‐load insurance against modest stakes. However, we find no effect of any of the three disclosure treatments on subjects' insurance choices. We discuss the implications of our results for possible public policy initiatives in insurance markets.
Unique achondrite Northwest Africa 11042: Exploring the melting and breakup of the L chondrite parent body
Authors: Váci Zoltán , Agee Carl B. , Humayun Munir , Ziegler Karen , Asmerom Yemane , Polyak Victor , Busemann Henner , Krietsch Daniela , Heizler Matthew , Sanborn Matthew E. , Yin Qing‐Zhu 
Published: March 2020

AbstractNorthwest Africa (NWA) 11042 is a heavily shocked achondrite with medium‐grained cumulate textures. Its olivine and pyroxene compositions, oxygen isotopic composition, and chromium isotopic composition are consistent with L chondrites. Sm‐Nd dating of its primary phases shows a crystallization age of 4100 ± 160 Ma. Ar‐Ar dating of its shocked mineral maskelynite reveals an age of 484.0 ± 1.5 Ma. This age coincides roughly with the breakup event of the L chondrite parent body evident in the shock ages of many L chondrites and the terrestrial record of fossil L chondritic chromite.NWA11042 shows large depletions in siderophile elements (<0.01×CI) suggestive of a complex igneous history involving extraction of a Fe‐Ni‐S liquid on the L chondrite parent body. Due to its relatively young crystallization age, the heat source for such an igneous process is most likely impact. Because its mineralogy, petrology, and O isotopes are similar to the ungrouped achondriteNWA4284 (this work), the two meteorites are likely paired and derived from the same parent body.
Screening for invasive fungal disease using non‐culture‐based assays among inpatients with advanced HIV disease at a large academic hospital in South Africa
Authors: van Schalkwyk Erika , Mhlanga Mabatho , Maphanga Tsidiso G. , Mpembe Ruth S. , Shillubane Amanda , Iyaloo Samantha , Tsotetsi Ernest , Pieton Kim , Karstaedt Alan S. , Sahid Faieza , Menezes Colin N. , Tsitsi Merika , Motau Ayanda , Wadula Jeannette , Seetharam Sharona , van den Berg Eunice , Sriruttan Charlotte , Govender Nelesh P. 
Published: March 2020

SummaryIntroductionDespite widespread access to antiretroviral therapy (ART), the burden of advanced HIV disease in South Africa is high. This translates into an increased risk of AIDS‐related opportunistic infections, including invasive mycoses.MethodsUsing a limited number of non‐culture‐based diagnostic assays, we aimed to determine the prevalence of invasive mycoses and tuberculosis among hospitalised adults with very advanced HIV (CD4 counts < 100 cells/µL) at a large academic hospital. We conducted interviews and prospective medical chart reviews. We performed point‐of‐care finger stick and serum cryptococcal antigen lateral flow assays; serum (1 → 3) ß‐D‐glucan assays; urine Histoplasma galactomannan antigen enzyme immunoassays and TB lipoarabinomannan assays.ResultsWe enrolled 189 participants from 5280 screened inpatients. Fifty‐eight per cent were female, with median age 37 years (IQR: 30‐43) and median CD4 count 32 cells/µL (IQR: 13‐63). At enrolment, 60% (109/181) were receiving ART. Twenty‐one participants (11%) had a diagnosis of an invasive mycosis, of whom 53% (11/21) had cryptococcal disease. Thirteen participants (7%) had tuberculosis and a concurrent invasive mycosis. ART‐experienced participants were 60% less likely to have an invasive mycosis than those ART‐naïve (adjusted OR: 0.4; 95% CI 0.15‐1.0; P = .03). Overall in‐hospital mortality was 13% (invasive mycosis: 10% [95% CI 1.2‐30.7] versus other diagnoses: 13% (95% CI 8.4‐19.3)).ConclusionsOne in ten participants had evidence of an invasive mycosis. Diagnosis of proven invasive fungal disease and differentiation from other opportunistic infections was challenging. More fungal‐specific screening and diagnostic tests should be applied to inpatients with advanced HIV disease.
Treatment of Thoracolumbar Fractures Through Different Short Segment Pedicle Screw Fixation Techniques: A Finite Element Analysis
Authors: Wang Tie‐nan , Wu Bao‐lin , Duan Rui‐meng , Yuan Ya‐shuai , Qu Ming‐jia , Zhang Shuo , Huang Wei , Liu Tao , Yu Xiao‐bing 
Published: March 2020

ObjectiveTo compare the von Mises stresses of the pedicle screw system and the displacement of injured vertebrae using 3‐D finite element analysis, and to evaluate the curative effect of the pedicle screw system.MethodsFinite element methods were used for biomechanical comparison of four posterior short segment pedicle screw fixation techniques. The different pedicle screw models are traditional trajectory (TT), Universal Spine System (USS), cortical bone trajectory (CBT), and CBT at the cranial level and pedicle screw (PS) at the caudal level (UP‐CBT). The stress distribution of the screws and connecting rods under different working conditions and the displacement of the injured vertebrae were compared and analyzed.ResultsAfter the pedicle screw system was fixed, the stress under vertical compression was mainly concentrated at the proximal end of the screw, while the stress was mainly concentrated on the connecting rod during flexion, extension, lateral flexion, and rotation. The TT group had the greatest stress during the flexion, extension, and left and right rotation. The UP‐CBT group was most stressed when the left and right sides were flexed; the stress of the USS screw system was less than that of the other three models during flexion, lateral flexion, and rotation. The maximum von Mises stress values of pedicle screws in all exercise states were 556.2, 340.7, 458.1, and 533.4 MPa, respectively. In the USS group, the displacement of the injured vertebra was small in the flexion, and the left and right lateral flexion and the right rotation were higher than in the TT group and the CBT group. The maximum displacements of the injured vertebrae in all motion states were 1.679, 1.604, 1.752, and 1.777 mm, respectively.ConclusionUniversal Spine System pedicle screws are relatively less stressed under different working conditions, the risk of breakage is small, and the model is relatively stable; CBT screws do not exhibit better mechanical properties than conventional pedicle screws and USS pedicle screws.
Mitochondrial Sirtuins in Skin and Skin Cancers
Authors: Su Shengqin , Ndiaye Mary , Singh Chandra K. , Ahmad Nihal 
Published: March 2020

AbstractMammalian sirtuins (SIRTs 1‐7) are a family of NAD+‐dependent deacetylases with distinct subcellular localization and biological functions that regulate various important cellular processes. Among these, SIRTs ‐3, ‐4 and ‐5 are located in the mitochondria and have been implicated in caloric restriction, oxidative stress, aging and various human diseases. Emerging evidence has found dysregulation of mitochondrial sirtuins in multiple dermatological conditions, including responses to ultraviolet radiation (UVR), suggesting their importance in maintaining skin health. In this review, we discuss the roles and implications of mitochondrial sirtuins in cutaneous cellular processes, and their emerging potential as a target for the management of skin diseases, including skin cancer. Among mitochondrial sirtuins, SIRT3 is the most studied and linked to multiple skin conditions and diseases (keratinocyte differentiation, wound healing, chronological aging, UVR and ozone response, systemic sclerosis, melanoma, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC)). SIRT4 has been connected to keratinocyte differentiation, chronological aging, UVR response, alopecia, BCC and SCC. Further, SIRT5 has been associated with keratinocyte differentiation, melanoma, BCC and SCC. Overall, while there is compelling evidence for the involvement of mitochondrial sirtuins in skin, additional detailed studies are needed to understand their exact roles in skin and skin cancers.
Effects of bisphenol A, diethylhexyl phthalate and pentabrominated diphenyl ether 99 on steroid synthesis in cultured bovine luteal cells
Authors: Kabakci Ruhi , Yigit A. Arzu 
Published: March 2020

AbstractBisphenol A (BPA), diethylhexyl phthalate (DEHP) and pentabrominated diphenyl ether 99 (PBDE 99) are environmental toxicants belonging to the endocrine disrupting compounds (EDCs). They exert adverse effects on the various physiological systems, especially the reproductive system of humans and animals. The aim of this study was to investigate the effects of BPA, DEHP and PBDE 99 on progesterone (P4) synthesis in cultured bovine luteal cells. The bovine luteal cells isolated from the mid‐luteal corpora lutea were exposed to different concentrations of BPA (1, 3, 10 and 30 µM), DEHP (1, 3, 10 and 30 µM) and PBDE 99 (0.1, 0.3, 1 and 3 µM) in a serum‐free culture media for 48 and 96 hr. At 48 hr, the P4 level in the luteal cells decreased after treatment with all concentrations of BPA; 3, 10 and 30 µM of DEHP; and 3 µM of PBDE 99 compared to the control (p < .05). Treatment of cells with 3–30 µM of BPA, 1–30 µM of DEHP and 1–3 µM of PBDE 99 for 96 hr resulted in reduction in P4 synthesis (p < .05). However, lower concentrations of PBDE 99 (0.1 and 0.3 µM) increased P4 levels at 48 and 96 hr. Synthesis of P4 was lower at 96 hr compared to the 48 hr in the groups treated with BPA (30 µM), DEHP (1–30 µM), PBDE 99 (0.3–3 µM) and control group. Our results showed that BPA, DEHP and PBDE 99 are able to alter luteal steroidogenesis in bovine cells and can disrupt hormonal balance in the ovary. However, it is necessary to evaluate the exact mechanism underlying these effects in future studies.
Gender, entrepreneurship and food security in Niger
Authors: Dedehouanou Sènakpon Fidèle Ange , Araar Abdelkrim 
Published: March 2020

AbstractIn many African countries, the income generated from the informal sector and the entrepreneurship is particularly important for reducing poverty. Previous studies have not found clear evidence on the relationship between self‐employment by gender and food security. We argue that this may be a result of the gender inequality in resource accessibility. In this paper, we analyze the implication of household entrepreneurship on food security in Niger, where gender disparities in resource accessibility are reduced. We find that owning female‐managed non‐agricultural enterprises is positively related to food accessibility and food availability within female‐headed households. The results draw the attention on reducing gender differences in resource accessibility in entrepreneurship for improving food security.
Social innovation and the autoimmunity of employability
Authors: Montgomery Tom 
Published: March 2020

AbstractThe purpose of this article is to examine social innovation in the field of youth employment. It addresses both the shortcomings of supply‐side approaches that are balanced towards issues such as employability and the impact of key demand side issues including low pay and precarity. The empirical analysis is based upon interviews with young people in employment or training with social innovations as well as interviews with senior policymakers and practitioners whose remit covers these issues. The study concludes by reflecting upon how the conduct of employability can operate as an autoimmune function.
Quality and safety measures in transfusion practice: The experience of eight southern/eastern Mediterranean countries
Authors: Haddad Antoine , Elgemmezi Tarek , Chaїb Mohamed , Bou Assi Tarek , Abu Helu Rasmi , Hmida Slama , Benajiba Mohamed , Ba Khadijetou , Alqudah Mohammad , Abi Hanna Pierre , Najjar Osama , Garraud Olivier 
Published: March 2020

Background and objectivesBlood transfusion is inherently associated with risks, and little is known regarding the available quality and safety measures in developing countries. No studies or census has been carried out, and therefore, no data on this compelling issue are available.Materials and methodsData emanating from eight Arabic eastern/southern Mediterranean countries who responded to five surveys were collected and tabulated.ResultsAsepsis during phlebotomy, screening for serological and immuno‐haematological parameters and appropriate storage conditions are maintained across all countries. Variations in blood component processing exist. Universal leucoreduction is systematically applied in Lebanon. Nucleic acid testing is only performed in Egypt. Aphaeresis procedure, leucoreduction and quality control for blood components are virtually inexistent in Mauritania. Written donor questionnaire is absent in Algeria and Tunisia. Most donor deferral periods for infectious agents are inconsistent with international standards.ConclusionGaps in the processing and in the quality/safety measures applied to the manufacture of blood components are quite evident in most eastern/southern Mediterranean countries. The decision of establishing an effective collaboration network and an independent body – aside from WHO – composed of specialists that oversees all transfusion activities in these countries is certainly a crucial step towards ensuring an optimum level of blood safety.
Evaluation of a sterile surgical skin marker to indicate the optimal vein for venepuncture in the blood donation setting
Authors: Bell Barbara , O’Donovan Justine , Wright Stephen T. , Gemelli Carley N. , Knight Elizabeth , Hirani Rena 
Published: March 2020

Background and objectivesPhlebotomy is a central task for blood donation; however, not all blood donors have veins that are easy to see or feel. This study aimed to determine whether use of a surgical skin marker to highlight the donors’ vein location and direction prior to venepuncture increased blood donation success.MethodsAll blood donors who participated in this study were eligible to donate according to Australian guidelines. Ten donor centres with phlebotomy success rates <95% were selected. A randomized cluster trial design assigned five sites to test the skin marking device and five sites as controls. Single‐use sterile Gentian violet skin marker pens were used to mark donors’ veins. Phlebotomy site skin bacterial load after using the skin marking device was tested on a subset of 100 donors. Phlebotomy success rates and donor adverse events were recorded.ResultsOf the control donors, 6993 had successful phlebotomies and 225 failed. Of the skin marker donors, 6998 had successful phlebotomies and 248 failed. No statistically significant differences in phlebotomy success were found between the two groups (OR: 0·91, 96·4% CI [96·0, 96·8], P‐value 0·348).ConclusionThe use of skin marker pens did not increase overall phlebotomy success rate. There was no increase in phlebotomy site skin bacterial load, and amendments to standard skin disinfection techniques were not required. Blood donors were not concerned about the pen mark on their arms. Generally, staff indicated that the markers may be valuable to assist with phlebotomies for donors with difficult or deep veins.
Experimental Demonstration of Inverse Heat Transfer Methodologies for Turbine Applications
Authors: Gonzalez Cuadrado David , Lozano Francisco , Paniagua Guillermo 
Published: March 2020

Abstract
Gas turbines operate at extreme temperatures and pressures, constraining the use of both optical measurement techniques as well as probes. A strategy to overcome this challenge consists of instrumenting the external part of the engine, with sensors located in a gentler environment, and use numerical inverse methodologies to retrieve the relevant quantities in the flowpath. An inverse heat transfer approach is a procedure that is used to retrieve the temperature, pressure, or mass flow through the engine based on the external casing temperature data. This manuscript proposes an improved digital filter inverse heat transfer method, which consists of a linearization of the heat conduction equation using sensitivity coefficients. The sensitivity coefficient characterizes the change of temperature due to a change in the heat flux. The heat conduction equation contains a non-linearity due to the temperature-dependent thermal properties of the materials. In previous literature, this problem is solved via iterative procedures that however increase the computational effort. The novelty of the proposed strategy consists of the inclusion of a non-iterative procedure to solve the non-linearity features. This procedure consists of the computation of the sensitivity coefficients in the function of temperature, together with an interpolation where the measured temperature is used to retrieve the sensitivity coefficients in each timestep. These temperature-dependent sensitivity coefficients are then used to compute the heat flux by solving the linear system of equations of the digital filter method. This methodology was validated in the Purdue Experimental Turbine Aerothermal Laboratory (PETAL) annular wind tunnel, a two-minute transient experiment with flow temperatures up to 450 K. Infrared thermography is used to measure the temperature in the outer surface of the inlet casing of a high-pressure turbine. Surface thermocouples measure the endwall metal temperature. The metal temperature maps from the IR thermography were used to retrieve the heat flux with the inverse method. The inverse heat transfer method results were validated against a direct computation of the heat flux obtained from temperature readings of surface thermocouples. The experimental validation was complemented with an uncertainty analysis of the inverse methodology: the Karhunen–Loeve expansion. This technique allows the propagation of uncertainty through stochastic systems of differential equations. In this case, the uncertainty of the inner casing heat flux has been evaluated through the simulation of different samples of the uncertain temperature field of the outer casing.
Erosion Testing of Environmental Barrier-Coated Ceramic Matrix Composite and Its Behavior on an Aero-Engine Turbine Vane Under Particle-Laden Hot Gas Stream
Authors: Okita Yoji , Mizokami Yosuke , Hasegawa Jun 
Published: March 2020

Abstract
Ceramic matrix composite (CMC) has better durability at high temperature and lower material density, as compared to nickel-based superalloys which have been the standard material for hot section components of aero-engines. Among the CMC materials, SiC–SiC CMC is especially promising with its superior mechanical property at a higher temperature. It, however, inevitably needs environmental barrier coating (EBC) to protect the substrate against oxidation. The EBC also needs to have other functions and to meet various requirements. One such very critical requirement is the resistance to sand erosion, although the issue has not been investigated well so far. The primary contribution of this work is to reveal the erosion resistance of the CMC + EBC material with wind tunnel test data of good quality and to demonstrate what erosion behavior the material exhibits in a turbine cascade under particle-laden hot gas stream. In the present work, erosion tests were first carried out in a testing facility with an erosion media of 50 μm silica sand. The tests were conducted under a flow velocity of 225 m/s and a temperature of 1311 K to simulate typical aero-engine conditions, and impact angles of 30, 60, and 80 deg were investigated. The obtained data showed a typical brittle erosion mode, where the erosion rate had a positive dependence on the impact angles. A typical erosion model, Neilson–Gilchrist model, was applied to correlate the data, and the model was shown to have a good agreement with the experimental data once it was properly calibrated. Then, the numerical computation solving particle-laden flow was carried out to predict three-dimensional flow field and particle trajectories across the target turbine cascade. The erosion profile along the airfoil was calculated based on the obtained trajectories and the calibrated erosion model. The trajectories showed that the particles mostly impinged the airfoil pressure surface first and then the rebounded particles attacked the opposite suction surface as well. Accordingly, the predicted erosion profile showed a broad erosion band across the pressure surface and also some slight erosion peak at around the mid-chord of the suction surface.