bluuebunny/crossref_metadata_2025_split huggingface dataset:
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
Authors: Kaukonen Maria , Pettinen Inka-Tuulevi , Wickström Kaisa , Arumilli Meharji , Donner Jonas , Juhola Ida-Julia , Holopainen Saila , Turunen Joni A. , Yoshihara Masahito , Kere Juha , Lohi Hannes 
Published: February 2021

AbstractRetinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants inPRCDandBEST1genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants, indicating additional genetic causes of disease in the breed. We collected DNA samples from 10 PRA affected LHs, with knownPRCDandBEST1variants excluded, and 34 unaffected LHs. A genome-wide association study identified a locus on CFA20 (praw = 2.4 × 10–7,pBonf = 0.035), and subsequent whole-genome sequencing of an affected LH revealed a missense variant, c.3176G>A, in the intraflagellar transport 122 (IFT122) gene. The variant was also found in Finnish Lapphunds, in which its clinical relevancy needs to be studied further. The variant interrupts a highly conserved residue, p.(R1059H), in IFT122 and likely impairs its function. Variants inIFT122have not been associated with retinal degeneration in mammals, but the loss of ift122 in zebrafish larvae impaired opsin transport and resulted in progressive photoreceptor degeneration. Our study establishes a new spontaneous dog model to study the role of IFT122 in RP biology, while the affected breed will benefit from a genetic test for a recessive condition.
Mixed Consistencies in Dysphagic Patients: A Myth to Dispel
Authors: Francesco Mozzanica , Nicole Pizzorni , Letizia Scarponi , Claudia Bazzotti , Daniela Ginocchio , Antonio Schindler 
Published: February 2021

AbstractOnly limited and inconsistent information about the effect of mixed consistencies on swallowing are available. The aim of this study was to evaluate the location of the head of the bolus at the swallow onset, the risk of penetration/aspiration, and the severity of post-swallow pharyngeal residue in patients with dysphagia when consuming mixed consistencies. 20 dysphagic patients underwent a Fiberoptic Endoscopic Evaluation of Swallowing (FEES) testing five different textures: liquid, semisolid, solid, biscuits-with-milk and vegetable-soup. The location of the head of the bolus at the onset of swallowing was rated using a five-points scale ranging from zero (the bolus is behind the tongue) to four (the bolus falls into the laryngeal vestibule), the severity of penetration/aspiration was rated using the Penetration Aspiration Scale (PAS), the amount of pharyngeal residue after the swallow was rated using the Yale Pharyngeal Residue Severity Rating Scale (YPRSRS) in the vallecula and pyriform sinus. When consuming biscuits-with-milk and liquid the swallow onset occurred more often when the boluses were located in the laryngeal vestibule. Penetration was more frequent with biscuits-with-milk, while aspiration was more frequent with Liquid, followed by biscuits-with-milk and vegetable-soup, Semisolid and Solid. In particular, no differences in penetration and aspiration between liquids and biscuits-with-milk were found as well as among vegetable-soup, semisolid and solid. No significant differences in the amount of food residue after swallowing were demonstrated. The risk of penetration-aspiration for biscuits-with-milk and liquid is similar, while the risk of penetration-aspiration is lower for vegetable-soup than for liquid.
IWATE criteria are associated with perioperative outcomes in robotic hepatectomy: a retrospective review of 225 resections
Authors: Labadie Kevin P. , Droullard David J. , Lois Alex W. , Daniel Sara K. , McNevin Kathryn E. , Gonzalez Jaqueline Valdez , Seo Yongwoo D. , Sullivan Kevin M. , Bilodeau Kyle S. , Dickerson Lindsay K. , Utria Alan F. , Calhoun John , Pillarisetty Venu G. , Sham Jonathan G. , Yeung Raymond S. , Park James O. 
Published: February 2021

Abstract
Background
Robotic hepatectomy (RH) is increasingly utilized for minor and major liver resections. The IWATE criteria were developed to classify minimally invasive liver resections by difficulty. The objective of this study was to apply the IWATE criteria in RH and to describe perioperative and oncologic outcomes of RH over the last decade at our institution.

Methods
Perioperative and oncologic outcomes of patients who underwent RH between 2011 and 2019 were retrospectively collected. The difficulty level of each operation was assessed using the IWATE criteria, and outcomes were compared at each level. Univariate linear regression was performed to characterize the relationship between IWATE criteria and perioperative outcomes (OR time, EBL, and LOS), and a multivariable model was also developed to address potential confounding by patient characteristics (age, sex, BMI, prior abdominal surgery, ASA class, and simultaneous non-hepatectomy operation).

Results
Two hundred and twenty-five RH were performed. Median IWATE criteria for RH were 6 (IQR 5–9), with low, intermediate, advanced, and expert resections accounting for 23% (n = 51), 34% (n = 77), 32% (n = 72), and 11% (n = 25) of resections, respectively. The majority of resections were parenchymal-sparing approaches, including anatomic segmentectomies and non-anatomic partial resections. 30-day complication rate was 14%, conversion to open surgery occurred in 9 patients (4%), and there were no deaths within 30 days postoperatively. In the univariate linear regression analysis, IWATE criteria were positively associated with OR time, EBL, and LOS. In the multivariable model, IWATE criteria were independently associated with greater OR time, EBL, and LOS. Two-year overall survival for hepatocellular carcinoma and intrahepatic cholangiocarcinoma was 94% and 50%, respectively.

Conclusion
In conclusion, the IWATE criteria are associated with surgical outcomes after RH. This series highlights the utility of RH for difficult hepatic resections, particularly parenchymal-sparing resections in the posterosuperior sector, extending the indication of minimally invasive hepatectomy in experienced hands and potentially offering select patients an alternative to open hepatectomy or other less definitive liver-directed treatment options.
Über die Rolle von Eisen bei multipler Sklerose
Authors: Hametner Simon 
Published: February 2021

ZusammenfassungIn den letzten Jahren kam es zu einer vermehrten Beforschung von Eisen im Gehirn von Personen mit multipler Sklerose (MS). Neue Techniken der Magnetresonanztomographie ermöglichen eine hochauflösende, sensitive und nichtinvasive Eisendarstellung des Gehirns. Deren Anwendung in Kombination mit histologischer Eisendarstellung führte zur Entdeckung von ringförmigen Eisenablagerungen am Rand von MS-Läsionen. Diese Eisenringe zeigen ein Fehlen von Reparaturmechanismen in chronischen MS-Läsionen an. Das Fehlen von solchen Eisenringläsionen in manchen Personen mit MS könnte auf einen etwas günstigeren Krankheitsverlauf hinweisen.
Mental health and use of health care services in opioid-exposed school-aged children compared to foster children
Authors: Sarfi Monica , Eikemo Marie , Welle-Strand Gabrielle K. , Muller Ashley Elizabeth , Lehmann Stine 
Published: February 2021

AbstractGiven the concerns raised regarding the effects of prenatal exposure to methadone and buprenorphine on the developmental outcomes of the children, this study assessed mental health and use of services in a national sample of school-aged children (N = 78) born to women enrolled in opioid maintenance treatment during pregnancy, compared with a group of foster children (N = 140). The majority of the opioid-exposed children lived with their birth parent(s) at the time of assessment (N = 62), while 16 lived in foster homes. Caregivers completed the Strengths and Difficulties Questionnaire (SDQ) and the Reactive Attachment Disorder scale. Teachers completed the SDQ. Three kinds of services were included in measuring service use: school-based education services, child mental health services, and hospital-based habilitation services. The main finding of the study is that children prenatally exposed to methadone or buprenorphine living with their family of origin had significantly better mental health status than their foster-placed counterparts and that of the comparison group of foster children. In addition, the exposed children living at home had less child welfare involvement, and only half of them were using any of the three services measured. The odds for using services increased significantly in accordance with increasing mental health problems, independent of group affiliation, indicating a need-based access to services. In line with other studies, we found that the odds for using one or more services was 2.3 times greater for boys than for girls. Our results contribute to a more-nuanced understanding of the developmental outcomes of prenatal exposure to methadone and buprenorphine, and factors associated with increased service use in groups of at-risk children.
Fate of nitrate during groundwater recharge in a fractured karst aquifer in Southwest Germany
Authors: Visser Anna-Neva , Lehmann Moritz F. , Rügner Hermann , D’Affonseca Fernando Mazo , Grathwohl Peter , Blackwell Nia , Kappler Andreas , Osenbrück Karsten 
Published: February 2021

AbstractOver the past decades, fractured and karst groundwater systems have been studied intensively due to their high vulnerability to nitrate (NO3−) contamination, yet nitrogen (N) turnover processes within the recharge area are still poorly understood. This study investigated the role of the karstified recharge area in NO3−transfer and turnover by combining isotopic analysis of NO3−and nitrite (NO2−) with time series data of hydraulic heads and specific electrical conductivity from groundwater monitoring wells and a karstic spring in Germany. A large spatial variability of groundwater NO3−concentrations (0.1–0.8 mM) was observed, which cannot be explained solely by agricultural land use. Natural-abundance N and O isotope measurements of NO3−(δ15N and δ18O) confirm that NO3−derives mainly from manure or fertilizer applications. Fractional N elimination by denitrification is indicated by relatively high δ15N- and δ18O-NO3−values, elevated NO2−concentrations (0.05–0.14 mM), and δ15N-NO2−values that were systematically lower than the corresponding values of δ15N-NO3−. Hydraulic and chemical response patterns of groundwater wells suggest that rain events result in the displacement of water from transient storage compartments such as the epikarst or the fissure network of the phreatic zone. Although O2levels of the investigated groundwaters were close to saturation, local denitrification might be promoted in microoxic or anoxic niches formed in the ferrous iron-bearing carbonate rock formations. The results revealed that (temporarily) saturated fissure networks in the phreatic zone and the epikarst may play an important role in N turnover during the recharge of fractured aquifers.
Complexity of linear relaxations in integer programming
Authors: Averkov Gennadiy , Schymura Matthias 
Published: February 2021

AbstractFor a set X of integer points in a polyhedron, the smallest number of facets of any polyhedron whose set of integer points coincides with X is called the relaxation complexity $${{\,\mathrm{rc}\,}}(X)$$

rc

(
X
)

. This parameter, introduced by Kaibel & Weltge (2015), captures the complexity of linear descriptions of X without using auxiliary variables. Using tools from combinatorics, geometry of numbers, and quantifier elimination, we make progress on several open questions regarding $${{\,\mathrm{rc}\,}}(X)$$

rc

(
X
)

and its variant $${{\,\mathrm{rc}\,}}_\mathbb {Q}(X)$$

rc

Q

(
X
)

, restricting the descriptions of X to rational polyhedra. As our main results we show that $${{\,\mathrm{rc}\,}}(X) = {{\,\mathrm{rc}\,}}_\mathbb {Q}(X)$$

rc

(
X
)

=

rc

Q

(
X
)

when: (a) X is at most four-dimensional, (b) X represents every residue class in $$(\mathbb {Z}/2\mathbb {Z})^d$$

(
Z
/
2
Z
)

d

, (c) the convex hull of X contains an interior integer point, or (d) the lattice-width of X is above a certain threshold. Additionally, $${{\,\mathrm{rc}\,}}(X)$$

rc

(
X
)

can be algorithmically computed when X is at most three-dimensional, or X satisfies one of the conditions (b), (c), or (d) above. Moreover, we obtain an improved lower bound on $${{\,\mathrm{rc}\,}}(X)$$

rc

(
X
)

in terms of the dimension of X.
COVID-19 and income inequality in OECD countries
Authors: Wildman John 
Published: February 2021

AbstractObjectiveTo determine the association between income inequality and COVID-19 cases and deaths per million in OECD countries.MethodsCross-sectional regression methods are used to model the relationship between income inequality, as measured by the Gini coefficient, and COVID-19 reported cases and deaths per-million.ResultsThe results demonstrate a significant positive association between income inequality and COVID-19 cases and death per million in all estimated models. A 1% increase in the Gini coefficient is associated with an approximately 4% increase in cases per-million and an approximately 5% increase in deaths per-million.ConclusionsThe results demonstrate that countries with high levels of income inequality have performed significantly worse when dealing with the COVID-19 outbreak in terms cases and deaths. Income inequality is a proxy for many elements of socioeconomic disadvantage that may contribute to the spread of, and deaths from, COVID-19. These include poor housing, smoking, obesity and pollution.Policy ImplicationsThe findings suggest the importance of closing the gap in income inequality and improving the health and incomes of the poorest and most vulnerable groups.
Catalytic activity of metals in heterogeneous Fenton-like oxidation of wastewater contaminants: a review
Authors: Hussain Sajid , Aneggi Eleonora , Goi Daniele 
Published: February 2021

AbstractInnovations in water technology are needed to solve challenges of climate change, resource shortages, emerging contaminants, urbanization, sustainable development and demographic changes. In particular, conventional techniques of wastewater treatment are limited by the presence of poorly biodegradable organic matter. Alternatively, recent Fenton, Fenton-like and hybrid processes appear successful for cleaning of different types of liquid wastewaters. Here, we review the application of metallic catalyst-H2O2 systems in the heterogeneous Fenton process. Each metallic catalyst-H2O2 system has unique redox properties due to metal oxidation state. Solution pH is a major influencing factor. Catalysts made of iron and cerium form stable complexes with oxidation products and H2O2, thus resulting in reduced activities. Copper forms transitory complexes with oxidation products, but copper catalytic activity is restored during the reaction. Silver and manganese do not form complexes. The catalyst performance for degradation and mineralization decreases in the order: manganese, copper, iron, silver, cerium, yet the easiness of practical application decreases in the order: copper, manganese, iron, silver, cerium.
Testing as an approach to control the Corona epidemic dynamics and avoid lockdowns
Authors: Gries Thomas , Welfens Paul J. J. 
Published: February 2021

AbstractVaccinations, lockdowns and testing strategies are three potential elements of an effective anti-coronavirus, and in particular Covid-19, health policy. The following analysis considers - within a simple model - the potentially crucial role of a Corona testing approach in combination with a quarantine approach which is shown herein to be a substitute for broad lockdown measures. The cost of lockdowns/shutdowns are rather high so that – beyond progress in terms of a broad vaccination program – a rational testing strategy should also be carefully considered. Testing has to be organized on the basis of an adequate testing infrastructure which could largely be implemented in firms, schools, universities and public administration settings. As regards the cost of a systematic broad Covid-19 testing strategy, these could come close to 0.5% of national income if there are no vaccinations. The Testing & Quarantine approach suggested here – with tests for symptomatic as well as asymptomatic people - is based on a random sampling and would require rather broad and frequent testing; possibly one test per person every 7–10 days. At the same time, one should consider that the cost of further lockdowns/shutdowns of a duration of 1 month could be very high, such that a standard cost benefit analysis supports the testing approach suggested herein. Also, an optimal policy mix could be designed where both vaccinations and testing play a crucial role. As of late January 2021, no further lockdowns in Germany and other OECD countries would be necessary if a broad testing infrastructure can be established rather quickly. This in turn will reinforce economic optimism and help to jumpstart economic growth in Europe, the US and Asia in a solid way. The basic logic of the testing approach pointed out here for industrialized countries could also be applied in developing countries. The approach presented is complementary to the IMF analysis of Cherif/Hasanov.
How do personality traits manifest in daily life of older adults?
Authors: Lindner Stefanie , Aschwanden Damaris , Zimmermann Johannes , Allemand Mathias 
Published: February 2021

AbstractThe present study examined how personality traits manifest in daily life of older adults and distinguished between the manifestations of experiences and behaviors. We used data from an ambulatory assessment study over 10 days with assessments of trait-related experiences and behaviors obtained from 136 older adults aged between 60 and 91 years (41.2% male; M = 70.45 years). Multilevel models revealed that on average, 61.2% of variance in trait-related experiences and 39.6% of variance in behaviors were due to consistent differences between persons. Older adults were rather variable and diverse in their trait manifestations, while they also showed relative stability in trait manifestations. Across older age, some age effects for trait manifestations were found. Moreover, within-person variation of experiences and behaviors showed, with one exception, joint fluctuations in daily life. The findings portray a nuanced picture of trait manifestations in older adulthood. The findings complement the literature on within-person variability in older adulthood and might encourage further studies from a within-person perspective to better understand how older adults navigate through daily life.
Limiting the explanatory scope of extended active inference: the implications of a causal pattern analysis of selective niche construction, developmental niche construction, and organism-niche coordination dynamics
Authors: Fabry Regina E. 
Published: February 2021

AbstractResearch in evolutionary biology and philosophy of biology and cognition strongly suggests that human organisms modify their environment through active processes of niche construction. Recently, proponents of the free-energy principle and variational active inference have argued that their approach can deepen our understanding of the reciprocal causal relationship between organisms and their niche on various scales. This paper examines the feasibility and scope of variational formalisations and conceptualisations of the organism-niche nexus with a particular focus on the extended active inference account. I will draw a conceptual distinction between selective niche construction, developmental niche construction, and organism-niche coordination dynamics and argue that these notions capture different causal patterns, each of which with a distinct scope. Against this background, I will analyse and discuss the extended active inference account and its strategy to integrate variational active inference with work on extended cognition. The proponents of extended active inference assume that their account can provide an explanation of selective niche construction, developmental niche construction, and organism-niche coordination dynamics. However, my key claim will be that this account has the potential to elucidate the workings of organism-niche coordination dynamics, but does not adequately capture the causal patterns of selective niche construction and developmental niche construction.
Unveiling a unique genetic diversity of cultivated Coffea arabica L. in its main domestication center: Yemen
Authors: Montagnon C. , Mahyoub A. , Solano W. , Sheibani F. 
Published: February 2021

AbstractWhilst it is established that almost all cultivated coffee (Coffea arabica L.) varieties originated in Yemen after some coffee seeds were introduced into Yemen from neighboring Ethiopia, the actual coffee genetic diversity in Yemen and its significance to the coffee world had never been explored. We observed five genetic clusters. The first cluster, which we named the Ethiopian-Only (EO) cluster, was made up exclusively of the Ethiopian accessions. This cluster was clearly separated from the Yemen and cultivated varieties clusters, hence confirming the genetic distance between wild Ethiopian accessions and coffee cultivated varieties around the world. The second cluster, which we named the SL-17 cluster, was a small cluster of cultivated worldwide varieties and included no Yemen samples. Two other clusters were made up of worldwide varieties and Yemen samples. We named these the Yemen Typica-Bourbon cluster and the Yemen SL-34 cluster. Finally, we observed one cluster that was unique to Yemen and was not related to any known cultivated varieties and not even to any known Ethiopian accession: we name this cluster the New-Yemen cluster. We discuss the consequences of these findings and their potential to pave the way for further comprehensive genetic improvement projects for the identification of major resilience/adaptation and cup quality genes that have been shaped through the domestication process of C. arabica.