bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
Authors: Martin Ella M M A , Enriquez Annabelle , Sparrow Duncan B , Humphreys David T , McInerney-Leo Aideen M , Leo Paul J , Duncan Emma L , Iyer Kavitha R , Greasby Joelene A , Ip Eddie , Giannoulatou Eleni , Sheng Delicia , Wohler Elizabeth , Dimartino Clémantine , Amiel Jeanne , Capri Yline , Lehalle Daphné , Mory Adi , Wilnai Yael , Lebenthal Yael , Gharavi Ali G , Krzemień Grażyna G , Miklaszewska Monika , Steiner Robert D , Raggio Cathy , Blank Robert , Baris Feldman Hagit , Milo Rasouly Hila , Sobreira Nara L M , Jobling Rebekah , Gordon Christopher T , Giampietro Philip F , Dunwoodie Sally L , Chapman Gavin 
Published: December 2020

Abstract
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven unrelated families with a variety of overlapping congenital malformations, including cardiac, vertebral, tracheo-esophageal, renal and limb defects. WBP11 encodes a component of the spliceosome with the ability to activate pre-messenger RNA splicing. We generated a Wbp11 null allele in mouse using CRISPR-Cas9 targeting. Wbp11 homozygous null embryos die prior to E8.5, indicating that Wbp11 is essential for development. Fewer Wbp11 heterozygous null mice are found than expected due to embryonic and postnatal death. Importantly, Wbp11 heterozygous null mice are small and exhibit defects in axial skeleton, kidneys and esophagus, similar to the affected individuals, supporting the role of WBP11 haploinsufficiency in the development of congenital malformations in humans. LoF WBP11 variants should be considered as a possible cause of VACTERL association as well as isolated Klippel-Feil syndrome, renal agenesis or esophageal atresia.
Extracorporeal life support in therapy-refractory cardiocirculatory failure: looking beyond 30 days
Authors: Guenther Sabina P W , Hornung Roman , Joskowiak Dominik , Vlachea Polyxeni , Feil Katharina , Orban Martin , Peterss Sven , Born Frank , Hausleiter Jörg , Massberg Steffen , Hagl Christian 
Published: December 2020

Abstract

OBJECTIVES
Venoarterial extracorporeal life support (ECLS) has emerged as a potentially life-saving treatment option in therapy-refractory cardiocirculatory failure, but longer-term outcome is poorly defined. Here, we present a comprehensive follow-up analysis covering all major organ systems.

METHODS
From February 2012 to December 2016, 180 patients were treated with ECLS for therapy-refractory cardiogenic shock or cardiac arrest. The 30-day survival was 43.9%, and 30-day survivors (n = 79) underwent follow-up analysis with the assessment of medium-term survival, quality of life, neuropsychological, cardiopulmonary and end-organ status.

RESULTS
After a median of 1.9 (1.1–3.6) years (182.4 patient years), 45 of the 79 patients (57.0%) were alive, 35.4% had died and 7.6% were lost to follow-up. Follow-up survival estimates were 78.0% at 1, 61.2% at 3 and 55.1% at 5 years. NYHA class at follow-up was ≤II for 83.3%. The median creatinine was 1.1 (1.0–1.4) mg/dl, and the median bilirubin was 0.8 (0.5–1.0) mg/dl. No patient required dialysis. Overall, 94.4% were free from moderate or severe disability, although 11.1% needed care. Full re-integration into social life was reported by 58.3%, and 39.4% were working. Quality of life was favourable for mental components, but a subset showed deficits in physical aspects. While age was the only peri-implantation parameter significantly predicting medium-term survival, adverse events and functional status at discharge or 30 days were strong predictors.

CONCLUSIONS
This study demonstrates positive medium-term outcome with high rates of independence in daily life and self-care but a subset of 10–20% suffered from sustained impairments. Our results indicate that peri-implantation parameters lack predictive power but downstream morbidity and functional status at discharge or 30 days can help identify patients at risk for poor recovery.
Determination of Aflatoxin M1 in Liquid Milk, Cheese, and Selected Milk Proteins by Automated Online Immunoaffinity Cleanup with Liquid Chromatography‒Fluorescence Detection
Authors: Wood Jackie E , Gill Brendon D , Indyk Harvey E , Rhemrev Ria , Pazdanska Monika , Mackay Naomi , Marley Elaine 
Published: December 2020

Abstract

Background
Aflatoxins are secondary metabolites produced by a number of species of Aspergillus fungi. Aflatoxin M1 (AFM1) is a hydroxylated metabolite of aflatoxin B1 and is found in the milk of cows fed with feed spoilt by Aspergillus species. AFM1 is carcinogenic, especially in the liver and kidneys, and mutagenic, and is also an immunosuppressant in humans.

Objective
A high-throughput method for the quantitative analysis of AFM1 that is applicable to liquid milk, cheese, milk protein concentrate (MPC), whey protein concentrate (WPC), whey protein isolate (WPI), and whey powder (WP) was developed and validated.

Method
AFM1 in cheese, milk, and protein products is extracted using 1% acetic acid in acetonitrile with citrate salts. The AFM1 in the resulting extract is concentrated using RIDA®CREST/IMMUNOPREP® ONLINE cartridges followed by quantification by HPLC‒fluorescence.

Results
The method was shown to be accurate for WP, WPC, WPI, MPC, liquid milk, and cheese, with acceptable recovery (81–112%) from spiked samples. Acceptable precision for WP, WPC, WPI, MPC, liquid milk, and cheese was confirmed, with repeatabilities of 4–12% RSD and intermediate precisions of 5–13% RSD. Method detection limit and ruggedness experiments further demonstrated the suitability of this method for routine compliance testing. An international proficiency scheme (FAPAS) cheese sample showed that this method gave results that were comparable with those from other methods.

Conclusions
A method for high-throughput, routine testing of AFM1 is described. The method was subjected to single-laboratory validation and was found to be accurate, precise, and fit-for-purpose.

Highlights
An automated online immunoaffinity cleanup HPLC‒fluorescence method for milk proteins, cheese, and milk was developed and single-laboratory validated. It allows for high-throughput analysis of AFM1 and can be used for the analysis of AFM1 in whey protein products.
Combined Effects of Methoprene and Metformin on Reproduction, Longevity, and Stress Resistance inAnastrepha ludens(Diptera: Tephritidae): Implications for the Sterile Insect Technique
Authors: Aceves-Aparicio Eva , Pérez-Staples Diana , Arredondo José , Corona-Morales Aleph , Morales-Mávil Jorge , Díaz-Fleischer Francisco 
Published: December 2020

AbstractSurvival and mating success are traits of quality in mass-reared sterile males. Thus, studying the trade-offs between these traits may help to improve process in the sterile insect technique (SIT). Here, we tested the hypothesis that modifying individual metabolism, especially of energetic reserves, may reduce the negative impact of an early reproduction on the survival of Anastrepha ludens flies. Appling metformin (a drug used to treat type II diabetes) that improves insects’ survival, through dietary restriction mimicry, and methoprene (a juvenile hormone analogue) that accelerates the age to reproduction in insects, we explore the dynamic of this trade-off. We fed A. ludens flies with metformin, methoprene, or a mixture of metformin–methoprene for five consecutive days. We determined the effect of these treatments on the fecundity and fertility (number of eggs and percentage of hatching) of females, on sexual maturation and mating success of males, and on the survival of both sexes. The results showed that the acceleration in sexual maturation by the action of methoprene significantly reduced survival in both sexes of two different fly strains. However, adding metformin to the diet buffered this negative effect, without reducing the mating propensity compared with the males treated only with methoprene. The response to metformin was sex-specific since females responded to high doses of the substance, whereas males responded better to low doses. These results suggest that trade-offs between survival and reproduction do not necessarily depend on energy reserves but they are intrinsically related to metabolic regulation and hormonal control.
Can Insectary Plants Enhance the Presence of Natural Enemies of the Green Peach Aphid (Hemiptera: Aphididae) in Mediterranean Peach Orchards?
Authors: Aparicio Yahana , Riudavets Jordi , Gabarra Rosa , Agustí Nuria , Rodríguez-Gasol Neus , Alins Georgina , Blasco-Moreno Anabel , Arnó Judit 
Published: December 2020

AbstractConservation biological control could be an alternative to insecticides for the management of the aphid Myzus persicae (Sulzer). To develop sustainable strategies for M. persicae control in peach orchards in the Mediterranean, a 2-yr field experiment was conducted to identify the key predators of the aphid; to determine whether the proximity of insectary plants boost natural enemies of M. persicae in comparison to the resident vegetation; and whether selected insectary plants enhance natural enemy populations in the margins of peach orchards. Aphidoletes aphidimyza Rondani (Diptera: Cecidomyiidae) and Episyrphus balteatus De Geer (Diptera: Syrphidae) were the most abundant predators found among sentinel aphid colonies, accounting for 57% and 26%, respectively. Samplings during 2015 yielded twice as many hoverflies in M. persicae sentinel plants close to the insectary plants as those close to the resident vegetation. The abundance of other natural enemies in sentinel plants, depending on their proximity to the insectary plants, was not significantly different in either of the 2 yr. Hoverflies hovered more often over the insectary plants than over the resident vegetation and landed significantly more often on Lobularia maritima (L.) Desv., Moricandia arvensis (L.) DC., and Sinapis alba L. (Brassicales: Brassicaceae) than on Achillea millefollium L. (Asterales: Compositae). Parasitoids were significantly more abundant in L. maritima and A. millefollium. The vicinity of selected insectary plants to peach orchards could improve the presence of hoverflies, which might benefit the biological control of M. persicae.
A biomechanical analysis of ischiofemoral impingement in a cadaver model
Authors: Murata Yoichi , Fukase Naomasa , Utsunomiya Hajime , Brady Alex W , Rosenberg Samuel I , Quinn Patrick , Uchida Soshi , Martin Hal David , Philippon Marc J 
Published: December 2020

Abstract
Ischiofemoral impingement (IFI) occurs due to the diminishing of space between the ischium and lesser trochanter. During a robotic hip study, one hip presented with indications of IFI, an opportunity to explore the pathophysiology and treatment strategies for this unusual condition. This specimen underwent kinematic tests in two states: (i) native lesser trochanter and (ii) resected lesser trochanter. The ‘Resected lesser trochanter’ state was found to increase the hip range of motion and decrease femoral head translation by eliminating contact between the femur and pelvis. These results suggest that lesser trochanteric resection would provide physical benefit for IFI patients.
An enhanced personality detection system through user’s digital footprints
Authors: Mobasher Mohammad , Farzi Saeed 
Published: December 2020

Abstract
One of the most important aspects of any person's life is personality, which affects one's speech, decision, well-being, feeling and mental health. Personality detection is usually based on data collected by a questionnaire that comprises some critical problems such as the lack of direct access to the individuals and explicit personal information. However nowadays, one of the valuable resources for such studies is social networks. The footprint and tracking of users on social networks have provided valuable information for personality recognition. Specifically, this research introduces an intelligence personality recognition system based on modeling user behavior using sophisticated features, i.e., Statistical, Emotional, and Linguistic. Furthermore, a dataset called KNTU_Personality based on the MBTI personality model with the profile information and tweets has been collected. The experimental study follows two scenarios with complementing objectives. First the sensitivity analysis is performed respecting to setting parameters, introduced features and different learning algorithms. Next the proposed system has been compared with well-known personality detection systems. The results demonstrate the superiorities of the proposed system regarding its counterparts in terms of F-Score, Precision, Recall and Accuracy.
Corticosteroids alter alveolar macrophage control of Lichtheimia corymbifera spores in an ex vivo mouse model
Authors: Brunet Kévin , Arrivé François , Martellosio Jean-Philippe , Lamarche Isabelle , Marchand Sandrine , Rammaert Blandine 
Published: December 2020

Abstract

Alveolar macrophages (AM) are the first-line lung defense against Mucorales in pulmonary mucormycosis. Since corticosteroid use is a known risk factor for mucormycosis, the aim of this study was to describe the role of corticosteroids on AM capacities to control Lichtheimia corymbifera spore growth using a new ex vivo model. An in vivo mouse model was developed to determine the acetate cortisone dose able to trigger pulmonary invasive infection. Then, in the ex vivo model, male BALB/c mice were pretreated with the corticosteroid regimen triggering invasive infection, before AM collection through bronchoalveolar lavage. AMs from corticosteroid-treated mice and untreated control AMs were then exposed to L. corymbifera spores in vitro (ratio 1:5). AM control of fungal growth, adherence/phagocytosis, and oxidative burst were assessed using optical densities by spectrophotometer, flow cytometry, and 2', 7'-dichlorofluoresceine diacetate fluorescence, respectively. Cortisone acetate at 500 mg/kg, at D-3 and at D0, led to pulmonary invasive infection at D3. Co-incubated spores and AMs from corticosteroid-treated mice had significantly higher absorbance (fungal growth) than co-incubated spores and control AMs, at 24 h (P = .025), 36 h (P = .004), and 48 h (P = .001). Colocalization of spores with AMs from corticosteroid-treated mice was significantly lower than for control AMs (7.6 ± 1.9% vs 22.3 ± 5.8%; P = .003), reflecting spore adherence and phagocytosis inhibition. Finally, oxidative burst was significantly increased when control AMs were incubated with spores (P = 0.029), while corticosteroids hampered oxidative burst from treated AMs (P = 0.321). Corticosteroids enhanced fungal growth of L. corymbifera through AM phagocytosis inhibition and burst oxidative decrease in our ex vivo model.

Lay Summary
The aim of this study was to describe the impact of corticosteroids on alveolar macrophage (AM) capacities to control Mucorales growth in a new murine ex vivo model. Corticosteroids enhanced fungal growth of L. corymbifera through AM phagocytosis inhibition and burst oxidative decrease.
DEVELOPMENT OF A NEUTRON DOSIMETRY SYSTEM BASED ON DOUBLE SELF-ACTIVATED CSI DETECTORS FOR MEDICAL LINAC ENVIRONMENTS
Authors: Hanada Yumika , Nohtomi Akihiro , Fukunaga Junichi , Shioyama Yoshiyuki 
Published: December 2020

Abstract
In the present study, by using double self-activated CsI detectors, the development of a neutron dosemeter system whose response indicates better agreement with the International Commission on Radiological Protection-74 rem-response was carried out to simply evaluate the neutron dose with high accuracy. The present double neutron dosemeter system, using a slow-neutron dosemeter (thermal to 10 keV) and a fast-neutron dosemeter (above 10 keV), consists of CsI scintillators wrapped with two types of neutron energy filtering materials: polyethylene and B4C silicon rubber. After optimization of each filter thickness, to confirm the validity of our method, the neutron ambient dose equivalents under several operating conditions of medical linear accelerators (Linacs) were evaluated using a Monte Carlo simulation and an experiment with the present dosemeter. From these results, the present dosimetry system has enabled a more accurate neutron dose evaluation than our conventional dosemeter, and the present dosemeter was suitable for the neutron dosimetry for 10 MV Linac environments.
An asymmetry in past and future mental time travel following vmPFC damage
Authors: Ciaramelli Elisa , Anelli Filomena , Frassinetti Francesca 
Published: December 2020

Abstract
The role of ventromedial prefrontal cortex (vmPFC) in mental time travel toward the past and the future is debated. Here, patients with focal lesions to the vmPFC and brain-damaged and healthy controls mentally projected themselves to a past, present or future moment of subjective time (self-projection) and classified a series of events as past or future relative to the adopted temporal self-location (self-reference). We found that vmPFC patients were selectively impaired in projecting themselves to the future and in recognizing relative-future events. These findings indicate that vmPFC damage hinders the mental processing of and movement toward future events, pointing to a prominent, multifaceted role of vmPFC in future-oriented mental time travel.
Stereotypes bias face perception via orbitofrontal–fusiform cortical interaction
Authors: Barnett Benjamin O , Brooks Jeffrey A , Freeman Jonathan B 
Published: December 2020

Abstract
Previous research has shown that social-conceptual associations, such as stereotypes, can influence the visual representation of faces and neural pattern responses in ventral temporal cortex (VTC) regions, such as the fusiform gyrus (FG). Current models suggest that this social-conceptual impact requires medial orbitofrontal cortex (mOFC) feedback signals during perception. Backward masking can disrupt such signals, as it is a technique known to reduce functional connectivity between VTC regions and regions outside VTC. During functional magnetic resonance imaging (fMRI), subjects passively viewed masked and unmasked faces, and following the scan, perceptual biases and stereotypical associations were assessed. Multi-voxel representations of faces across the VTC, and in the FG and mOFC, reflected stereotypically biased perceptions when faces were unmasked, but this effect was abolished when faces were masked. However, the VTC still retained the ability to process masked faces and was sensitive to their categorical distinctions. Functional connectivity analyses confirmed that masking disrupted mOFC–FG connectivity, which predicted a reduced impact of stereotypical associations in the FG. Taken together, our findings suggest that the biasing of face representations in line with stereotypical associations does not arise from intrinsic processing within the VTC and FG alone, but instead it depends in part on top-down feedback from the mOFC during perception.
Become your own SLEEPexpert: design, implementation, and preliminary evaluation of a pragmatic behavioral treatment program for insomnia in inpatient psychiatric care
Authors: Schneider Carlotta Louisa , Hertenstein Elisabeth , Fehér Kristoffer , Maier Jonathan Gabriel , Cantisani Andrea , Moggi Franz , Berger Thomas , Nissen Christoph 
Published: December 2020

AbstractStudy ObjectivesThe majority of patients with mental disorders suffer from insomnia, associated with adverse health outcomes. Cognitive behavioral therapy for insomnia (CBT-I) represents the first-line treatment, but is too complex for severely ill patients and not systematically implemented in inpatient psychiatric care. This project aimed to develop a pragmatic behavioral treatment program that empowers inpatients with severe mental disorders to take care of their own sleep health.MethodsCBT-I was adapted based on implementation research involving 24 inpatients with psychiatric disorders across diagnostic entities and comorbid insomnia and 30 health care providers at the University Hospital of Psychiatry and Psychotherapy, Bern. The program was implemented and evaluated by 15 patients and 22 health care providers based on interviews and questionnaires before participation and prior to discharge.ResultsImplementation research resulted in the SLEEPexpert intervention, centering on bedtime restriction and circadian adaptation in three phases; therapist-guided treatment initiation, self-management with nursing support, and self-management. Evaluative pre-post assessments in 15 patients demonstrated feasibility. Time in bed decreased by 60 minutes (520 ± 105.3 vs. 460 ± 78.1, p = 0.031, d = 0.6) and total sleep time increased by around 45 minutes (331 ± 110.6 vs. 375 ± 74.6, p = 0.09, d = 0.5), resulting in increased sleep efficiency (65.3 ± 21.8 vs. 81.9 ± 11.2%, p = 0.011, d = 0.8). Patients improved on the Insomnia Severity Index (18.3 ± 4.6 vs. 11.4 ± 4.4, p &lt; 0.001, d = 1.2) and Pittsburgh Sleep Quality Index (12.9 ± 3.8 vs. 10.3 ± 3.3, p = 0.031, d = 0.6).ConclusionsWe propose a new pragmatic behavioral treatment program (SLEEPexpert) customized to the needs of patients and health care providers in inpatient psychiatric care. Data demonstrate feasibility. An improvement of insomnia severity was observed, but a control comparison is needed to further test for efficacy.
Effects of an Environmentally Relevant Mixture of Organophosphate Esters Derived From House Dust on Endochondral Ossification in Murine Limb Bud Cultures
Authors: Yan Han , Hales Barbara F 
Published: December 2020

Abstract
Organophosphate esters (OPEs) are used widely as flame retardants and plasticizers but much remains unknown about their potential toxicity. Previously, we reported that 4 individual OPEs suppress endochondral ossification in murine limb bud cultures. However, real-life exposure is to complex OPE mixtures. In the present study, we tested the hypothesis that a Canadian household dust-based OPE mixture will affect endochondral ossification in gestation day 13 CD1 mouse embryo limb buds expressing fluorescent markers for the major cell populations involved in the process: collagen type II alpha 1-enhanced cyan fluorescent protein (proliferative chondrocytes), collagen type X alpha 1-mCherry (hypertrophic chondrocytes), and collagen type I alpha 1-yellow fluorescent protein (osteoblasts). Limbs were cultured for 6 days in the presence of vehicle or dilutions of the OPE mixture (1/1 000 000, 1/600 000, and 1/300 000). All 3 OPE mixture dilutions affected cartilage template development and the progression of endochondral ossification, as indicated by the fluorescent markers. The expression of Sox9, the master regulator of chondrogenesis, was unchanged, but the expression of Runx2 and Sp7, which drive chondrocyte hypertrophy and osteoblastogenesis, was dilution-dependently suppressed. RNA-seq revealed that exposure to the 1/300 000 dilution of the OPE mixture for 24 h downregulated 153 transcripts and upregulated 48 others by at least 1.5-fold. Downregulated transcripts were enriched for those related to the immune system and bone formation. In contrast, upregulated transcripts were enriched for those with stress response functions known to be regulated by ATF4 activation. Thus, exposure to the mixture of OPEs commonly found in house dust may have adverse effects on bone formation.