bluuebunny/crossref_metadata_2025_split huggingface dataset:
A child with duchenne muscular dystrophy: A case report of a rare diagnosis among Africans
Authors: Nassoro David D. , Torres Liset , Marando Rehema , Mboma Lazaro , Mushi Seraphine , Habakkuk Mwakyula Issakwisa 
Published: August 2020

AbstractIn Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even though the data on prevalence is limited, we need to have a high degree of suspicion in patients presenting with suggestive clinical features.
Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome
Authors: Helle Ole Magnus Bjorgaas , Pedersen Torkild Høieggen , Ousager Lilian Bomme , Thomassen Mads , Hertz Jens Michael 
Published: August 2020

AbstractBackgroundAlport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end‐stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X‐linked in the majority of families and caused by sequence variants in the COL4A5 gene encoding the α5‐chain of type‐IV collagen. The proportion of de novo COL4A5 sequence variants in X‐linked Alport syndrome has been reported between 12 and 15% in previous studies.MethodsIn the present study we have systematically investigated the mosaic status of asymptomatic parents of six patients with X‐linked Alport syndrome using next‐generation sequencing of DNA extracted from different tissues. The deleterious COL4A5 sequence variants in these patients were previously assumed to be de novo, based on Sanger sequencing of the parents.ResultsA low‐grade (1%) parental mosaicism was detected in only one out of six families (17%). In addition, in one out of six families (17%), we found that the mutational event probably occurred postzygotic.ConclusionThese findings highlight the importance of testing for mosaicism in unaffected parents of patients with sequence variants considered to be de novo, as it may have implications for the recurrence risk and thereby for the genetic counseling of the family.
Supporting Human Autonomy in AI Systems: A Framework for Ethical Enquiry
Authors: Calvo Rafael A. , Peters Dorian , Vold Karina , Ryan Richard M. 
Published: August 2020

AbstractAutonomy has been central to moral and political philosophy for millennia, and has been positioned as a critical aspect of both justice and wellbeing. Research in psychology supports this position, providing empirical evidence that autonomy is critical to motivation, personal growth and psychological wellness. Responsible AI will require an understanding of, and ability to effectively design for, human autonomy (rather than just machine autonomy) if it is to genuinely benefit humanity. Yet the effects on human autonomy of digital experiences are neither straightforward nor consistent, and are complicated by commercial interests and tensions around compulsive overuse. This multi-layered reality requires an analysis that is itself multidimensional and that takes into account human experience at various levels of resolution. We borrow from HCI and psychological research to apply a model (“METUX”) that identifies six distinct spheres of technology experience. We demonstrate the value of the model for understanding human autonomy in a technology ethics context at multiple levels by applying it to the real-world case study of an AI-enhanced video recommender system. In the process we argue for the following three claims: (1) There are autonomy-related consequences to algorithms representing the interests of third parties, and they are not impartial and rational extensions of the self, as is often perceived; (2) Designing for autonomy is an ethical imperative critical to the future design of responsible AI; and (3) Autonomy-support must be analysed from at least six spheres of experience in order to appropriately capture contradictory and downstream effects.
Cosmological decoherence from thermal gravitons
Authors: Bao Ning , Chatwin-Davies Aidan , Pollack Jason , Remmen Grant N. 
Published: August 2020

Abstract
We study the effects of gravitationally-driven decoherence on tunneling processes associated with false vacuum decays, such as the Coleman-De Luccia instanton. We compute the thermal graviton-induced decoherence rate for a wave function describing a perfect fluid of nonzero energy density in a finite region. When the effective cosmological constant is positive, the thermal graviton background sourced by a de Sitter horizon provides an unavoidable decoherence effect, which may have important consequences for tunneling processes in cosmological history. We discuss generalizations and consequences of this effect and comment on its observability and applications to black hole physics.
Analytic continuation of Bethe energies and application to the thermodynamic limit of the SL(2, ℂ) non-compact spin chains
Authors: Granet Etienne , Jacobsen Jesper Lykke , Saleur Hubert 
Published: August 2020

Abstract
We consider the problem of analytically continuing energies computed with the Bethe ansatz, as posed by the study of non-compact integrable spin chains. By introducing an imaginary extensive twist in the Bethe equations, we show that one can expand the analytic continuation of energies in the scaling limit around another ‘pseudo-vacuum’ sitting at a negative number of Bethe roots, in the same way as around the usual pseudo-vacuum. We show that this method can be used to compute the energy levels of some states of the SL(2, ℂ) integrable spin chain in the infinite-volume limit, and as a proof of principle recover the ground-state value previously obtained in [1] (for the case of spins s = 0,$$ \overline{s} $$

s
¯

= −1) by extrapolating results in small sizes. These results represent, as far as we know, the first (partial) description of the spectrum of SL(2, ℂ) non-compact spin chains in the thermodynamic limit.
On the Cauchy difference of functions bounded modulo $$\mathbb {Z}$$ on “large” sets
Authors: Jabłońska Eliza 
Published: August 2020

AbstractLet X be a real Polish vector space, $$D\subset X$$

D
⊂
X

be a universally Baire non-Haar-meager set, and let $$f:X\rightarrow \mathbb {R}$$

f
:
X
→
R

satisfy $$f(x+y)-f(x)-f(y)\in \mathbb {Z}$$

f
(
x
+
y
)
-
f
(
x
)
-
f
(
y
)
∈
Z

for all $$x,y\in X$$

x
,
y
∈
X

and $$f(D)\subset (-\frac{1}{3},\frac{1}{3})+\mathbb {Z}$$

f

(
D
)

⊂

(
-

1
3

,

1
3

)

+
Z

. We prove that there exists a unique linear functional $$L:X\rightarrow \mathbb {R}$$

L
:
X
→
R

with $$f(x)-L(x)\in \mathbb {Z}$$

f
(
x
)
-
L
(
x
)
∈
Z

for $$x\in X$$

x
∈
X

and next we apply it to functionals which are orthogonally additive modulo $$\mathbb {Z}$$
Z
. These new results are topological counterparts to some results of Brzdȩk (Results Math 30:25–38, 1996) and also generalize (to some extent) his results.
Topology optimization for transversely isotropic materials with high-cycle fatigue as a constraint
Authors: Suresh Shyam , Lindström Stefan B. , Thore Carl-Johan , Klarbring Anders 
Published: August 2020

AbstractWe propose a topology optimization method for design of transversely isotropic elastic continua subject to high-cycle fatigue. The method is applicable to design of additive manufactured components, where transverse isotropy is often manifested in the form of a lower Young’s modulus but a higher fatigue strength in the build direction. The fatigue constraint is based on a continuous-time model in the form of ordinary differential equations governing the time evolution of fatigue damage at each point in the design domain. Such evolution occurs when the stress state lies outside a so-called endurance surface that moves in stress space depending on the current stress and a back-stress tensor. Pointwise bounds on the fatigue damage are approximated using a smooth aggregation function, and the fatigue sensitivities are determined by the adjoint method. Several problems where the objective is to minimize mass are solved numerically. The problems involve non-periodic proportional and non-proportional load histories. Two alloy steels, AISI-SAE 4340 and 34CrMo6, are treated and the respective as well as the combined impact of transversely isotropic elastic and fatigue properties on the design are compared.
The rate of dasotraline brain entry is slow following intravenous administration
Authors: Lew Robert , Constantinescu Cristian C. , Holden Daniel , Carson Richard E. , Carroll Vincent , Galluppi Gerald , Koblan Kenneth S. , Hopkins Seth C. 
Published: August 2020

Abstract
Rationale
Drugs that rapidly increase dopamine levels have an increased risk of abuse. Dasotraline (DAS) is a dopamine and norepinephrine reuptake inhibitor characterized by slow oral absorption with low potential for abuse. However, it remains unclear whether intravenous (i.v.) administration would facilitate the rapid elevation of dopamine levels associated with stimulant drugs.

Objective
To assess the kinetics of DAS across the blood-brain barrier and time to onset of dopamine transporters (DAT) inhibition.

Methods
We compared the onset of DAT occupancy and the associated elevation of synaptic dopamine levels in rhesus monkey following i.v. administration of DAS or methylphenidate (MPH) using positron emission tomography (PET). Brain entry times were estimated by reductions in [18F]-FE-PE2I binding to DAT in rhesus monkeys. Elevations of synaptic dopamine were estimated by reductions in [11C]-Raclopride binding to D2 receptors.

Results
Intravenous administration of DAS (0.1 and 0.2 mg/kg) resulted in striatal DAT occupancies of 54% and 68%, respectively; i.v. administered MPH (0.1 and 0.5 mg/kg) achieved occupancies of 69% and 88% respectively. Brain entry times of DAS (22 and 15 min, respectively) were longer than for MPH (3 and 2 min). Elevations in synaptic dopamine were similar for both DAS and MPH however the time for half-maximal displacement by MPH (t = 23 min) was 4-fold more rapid than for DAS (t = 88 min).

Conclusions
These results demonstrate that the pharmacodynamics effects of DAS on DAT occupancy and synaptic dopamine levels are more gradual in onset than those of MPH even with i.v. administration that is favored by recreational drug abusers.
Calculation of dispersion interactions with the geminal-based ring Coupled Cluster Doubles method
Authors: Margócsy Á. , Szabados Á. 
Published: August 2020

AbstractThe performance of the recently developed multi-reference extension of ring coupled cluster doubles is investigated for dispersion energy calculations, applied to the generalized valence bond wave function. The leading-order contribution to the dispersion energy is shown to have the correct asymptotic behaviour. Illustrative calculations on noble gas dimers are presented.
Qualitative versus automatic evaluation of CT perfusion parameters in acute posterior circulation ischaemic stroke
Authors: Capasso Raffaella , Vallone Stefano , Serra Nicola , Zelent Gabriele , Verganti Luca , Sacchetti Federico , Bigliardi Guido , Picchetto Livio , Caranci Ferdinando , Zini Andrea 
Published: August 2020

Abstract
Purpose
To compare the diagnostic accuracy (ACC) in the detection of acute posterior circulation strokes between qualitative evaluation of software-generated colour maps and automatic assessment of CT perfusion (CTP) parameters.

Methods
Were retrospectively collected 50 patients suspected of acute posterior circulation stroke who underwent to CTP (GE “Lightspeed”, 64 slices) within 24 h after symptom onset between January 2016 and December 2018. The Posterior circulation-Acute Stroke Prognosis Early CT Score (pc-ASPECTS) was used for quantifying the extent of ischaemic areas on non-contrast (NC)CT and colour-coded maps generated by CTP4 (GE) and RAPID (iSchemia View) software. Final pc-ASPECTS was calculated on follow-up NCCT and/or MRI (Philips Intera 3.0 T or Philips Achieva Ingenia 1.5 T). RAPID software also elaborated automatic quantitative mismatch maps.

Results
By qualitative evaluation of colour-coded maps, MTT-CTP4D and Tmax-RAPID showed the highest sensitivity (SE) (88.6% and 90.9%, respectively) and ACC (84% and 88%, respectively) compared with the other perfusion parameters (CBV, CBF). Baseline NCCT and CBF provided by RAPID quantitative perfusion mismatch maps had the lowest SE (29.6% and 6.8%, respectively) and ACC (38% and 18%, respectively). CBF and Tmax assessment provided by quantitative RAPID perfusion mismatch maps showed significant lower SE and ACC than qualitative evaluation. No significant differences were found between the pc-ASPECTSs assessed on colour-coded MTT and Tmax maps neither between the scores assessed on colour-coded CBV-CTP4D and CBF-RAPID maps.

Conclusion
Qualitative analysis of colour-coded maps resulted more sensitive and accurate in the detection of ischaemic changes than automatic quantitative analysis.
New records of plant-parasitic nematodes from Iceland
Authors: Flis Łukasz , Kornobis Franciszek Wojciech , Kubicz Magdalena , Guðmundsson Jón 
Published: August 2020

AbstractThe plant-parasitic nematodes of Iceland are poorly understood. To address this, a study of the nematodes of the families Criconematidae and Hemicycliophoridae was performed in 2015. Soil samples were taken from underneath various host plants in different locations in Iceland. The identification was performed on the basis of the general morphology and subsequently confirmed by molecular markers (D2-D3 28S rDNA). The study revealed the presence of nematode specimens belonging to four species of the family Criconematidae: Criconemoides amorphus, Criconema demani, Mesocriconema xenoplax and Mesocriconema curvatum, as well as one species Hemicycliophora conida of the family Hemicycliophoridae. To our knowledge, this is the first record of the occurrence of these nematode species in Iceland. The species identified are economically important plant-parasitic nematodes of likely interest to—among others—Icelandic plant protection professionals. This report broadens our knowledge of Iceland’s nematode biodiversity; moreover, morphological analyses and molecular data may contribute to better understanding the origin of nematode species on the island of Iceland.
Testosterone serum levels are not predictive of maternal virilization in hyperreactio luteinalis
Authors: Condic Mateja , Merz Waltraut M. , Gembruch Ulrich , Klingmüller Dietrich , Stoffel-Wagner Birgit , Dolscheid-Pommerich Ramona 
Published: August 2020

AbstractBackgroundElevated concentrations of circulating testosterone are present in hyperreactio luteinalis (HL), a pregnancy-specific, self-limited condition. HL is associated with maternal virilization in about 30% of cases. The correlation between testosterone levels and maternal virilization has not yet been quantified. Our aim was to identify a testosterone cut-off level which may allow to predict maternal virilization.MethodsA literature research was performed. Publications were chosen if serum testosterone concentrations and presence or absence of maternal virilization was mentioned. Additionally, we report serial levels of steroids analyzed by Liquid chromatography–tandem mass spectrometry (LC–MS/MS) in one case of HL managed at our institution.ResultsIn all, 31 cases fulfilled the search criteria. We found significant overlap between testosterone levels in asymptomatic women and women with signs of virilization (range 6.2–37.3 nmol/l and 13.7–197.5 nmol/l, respectively). The method applied for testosterone analysis was mentioned in three reports only. Peak serum testosterone concentration in our case was 120.3 nmol/l.ConclusionFrom the available data, maternal virilization in HL cannot be predicted by the level of circulating testosterone. However, comparability of results is hampered by the analytical methods applied. LC–MS/MS should preferably be used for reporting concentrations of circulating testosterone.
Ortho- and retronasal olfactory performance in rhinosurgical procedures: a longitudinal comparative study
Authors: Besser Gerold , Liu David T. , Sharma Gunjan , Bartosik Tina J. , Kaphle Sebastian , Enßlin Max , Renner Bertold , Mueller Christian A. 
Published: August 2020

Abstract
Purpose
Testing olfaction should be an integral part of a clinical work-up in rhinosurgical procedures. Importantly, intact olfactory experience also includes retronasally perceived odors (retronasal olfaction). This study aimed at comprehensively assessing olfaction in patients undergoing rhinosurgical procedures in a comparative manner and evaluating relations to patient-reported outcome measurements (PROMs).

Methods
Each nostril odor threshold and discrimination, and birhinal identification were tested using Sniffin’ Sticks in 14 subjects assigned for septoplasty (SP), 21 for septorhinoplasty (SRP), and 30 for endoscopic sinus surgery (ESS). The 27-Candy-Smell-Test was used to quantify retronasal abilities. Tests were repeated 3 months after surgery.

Results
Olfactory dysfunction was preoperatively present in 21% of SP, in 47.6% of SRP, and in 80% of ESS patients. Odor threshold side differences were most frequently found in SRP. Frequently, SRP and ESS patients showed severely impaired retronasal olfaction. Half of included subjects re-visited after 3 months, but olfactory function did not improve overall and rarely on an individual basis to a meaningful extent. Subjective ratings on nasal patency and PROMs were not associated with olfaction nor with changes in olfactory scores.

Conclusion
Olfactory function can decisively be impaired a priori not only in patients awaiting sinus surgery, but also in those assigned for functional septorhinoplasty. This impairment may not improve in the short term, which has to be taken into account in patient counseling. This study adds to the current literature on olfaction in rhinosurgery with the extension of retronasal testing.
The neural correlates of the visual consciousness in schizophrenia: an fMRI study
Authors: Lefebvre S. , Very E. , Jardri R. , Horn M. , Yrondi A. , Delmaire C. , Rascle C. , Dujardin K. , Thomas P. , Pins D. 
Published: August 2020

AbstractIn the current literature, two distinct and opposite models are suggested to explain the consciousness disorders in schizophrenia. The first one suggests that consciousness disorders rely on a low-level processing deficit, when the second model suggests that consciousness disorders rely on disruption in the ability to consciously access information, with preserved unconscious processing. The current study aims to understand the mechanisms associated with visual consciousness disorder in order to pave the road that will settle the debate regarding these hypotheses. During a functional magnetic resonance imaging session, 19 healthy participants (HC) and 15 patients with schizophrenia (SCZ) performed a visual detection task to compare the neural substrates associated with the conscious access to the visual inputs. The visual detection threshold was significantly higher in SCZ than in HC [t(32) = 3.37, p = 0.002]. Whole-brain ANOVA demonstrated that around the visual detection threshold patients with SCZ failed to activate a large network of brain areas compared to HC. (1) During conscious vision, HC engaged more the left cuneus and the right occipital cortex than patients with SCZ, (2) during unconscious vision, HC engaged a large network that patients with SCZ failed to activate, and finally, (3) during the access to consciousness process, patients with SCZ failed to activate the anterior cingulate cortex. These results suggest that the consciousness disorders in schizophrenia rely on specific dysfunctions depending on the consciousness stage. The disorders of the conscious vision are associated with dysfunction of occipital areas while the ones associated with unconscious vision rely on a large widespread network. Finally, the conscious access to the visual inputs is impaired by a dysfunction of the anterior cingulate cortex. The current study suggests that none of the two suggested models can explain consciousness disorders in schizophrenia. We suggest that there is an alternative model supporting that the conscious access to visual inputs is due to a disengagement of the supragenual anterior cingulate during the unconscious processing of the visual inputs associated with a sensory deficit.
Subjective burden and perspectives of German healthcare workers during the COVID-19 pandemic
Authors: Kramer Victoria , Papazova Irina , Thoma Andreas , Kunz Miriam , Falkai Peter , Schneider-Axmann Thomas , Hierundar Anke , Wagner Elias , Hasan Alkomiet 
Published: August 2020

AbstractHealthcare workers (HCW) face tremendous challenges during the COVID-19 pandemic. Little is known about the subjective burden, views, and COVID-19 infection status of HCWs. The aim of this work was to evaluate the subjective burden, the perception of the information policies, and the agreement on structural measures in a large cohort of German HCW during the COVID-19 pandemic. This country-wide anonymous online survey was carried out from April 15th until May 1st, 2020. 25 content-related questions regarding the subjective burden and other dimensions were evaluated. We evaluated different dimensions of subjective burden, stress, and perspectives using 5-point Likert-scale questions. Moreover, the individual COVID-19 infection status, the amount of people infected in circle of friends and acquaintances and the hours working overtime were assessed. A total of 3669 HCWs provided sufficient responses for analyses. 2.8% of HCWs reported to have been tested positive for COVID-19. Nurses reported in principle higher ratings on all questions of subjective burden and stress than doctors and other hospital staff. Doctors (3.6%) and nurses (3.1%) were more likely to be tested positive for COVID-19 than other hospital staff (0.6%, Chi
(2)
2
= 17.39, p < 0.0005). HCWs who worked in a COVID-19 environment reported higher levels of subjective burden and stress compared to all other participants. Working in a COVID-19 environment increased the likelihood to be tested positive for COVID-19 (4.8% vs. 2.3%, Chi
(1)
2
= 12.62, p < 0.0005) and the severity of the subjective burden. During the COVID-19 pandemic, nurses experience more stress than doctors. Overall, German HCWs showed high scores of agreement with the measures taken by the hospitals.
A 5-year clinical follow-up study from the Italian National Registry for FSHD
Authors: Vercelli Liliana , Mele Fabiano , Ruggiero Lucia , Sera Francesco , Tripodi Silvia , Ricci Giulia , Vallarola Antonio , Villa Luisa , Govi Monica , Maranda Louise , Di Muzio Antonio , Scarlato Marina , Bucci Elisabetta , Maggi Lorenzo , Rodolico Carmelo , Moggio Maurizio , Filosto Massimiliano , Antonini Giovanni , Previtali Stefano , Angelini Corrado , Berardinelli Angela , Pegoraro Elena , Siciliano Gabriele , Tomelleri Giuliano , Santoro Lucio , Mongini Tiziana , Tupler Rossella 
Published: August 2020

Abstract
Background
The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.

Methods
An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score).

Findings
Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001.

Conclusions
The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients.