bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Authors: Gotta Fabio , Lamp Merit , Geroldi Alessandro , Trevisan Lucia , Origone Paola , Fugazza Giuseppina , Fabbri Sabrina , Nesti Claudia , Rubegni Anna , Morani Federica , Santorelli Filippo Maria , Bellone Emilia , Mandich Paola 
Published: April 2020

AbstractPerrault syndrome is a rare disorder characterized by ovarian dysgenesis, bilateral sensorineural hearing loss and associated with mutations in six mitochondrial proteins. Additional neurological features were also described. Herein, we report on a 27‐year‐old woman with Perrault syndrome (PS), moderate ataxia and axonal sensory‐motor peripheral neuropathy in whom we identified compound heterozygous mutations in the TWNK gene (p.Val507Ile and the novel p.Phe248Ser variant). Fewer than 30 patients with PS have been reported worldwide. Neurological involvement is more frequently associated with mutations in TWNK and indicates possible genotype–phenotype correlations. TWNK mutations should be searched in patients with sensory ataxia, early onset bilateral sensorineural hearing loss, and ovarian dysfunction in women.
Retrospectively diagnosing congenital cytomegalovirus infections in symptomatic infants is challenging
Authors: Lüsebrink Natalia , Kieslich Matthias , Rabenau Holger F. , Schlößer Rolf L. , Buxmann Horst 
Published: April 2020

AbstractAimOur aim was to analyse the diagnostic workup of hospitalised infants with symptoms of congenital cytomegalovirus (CMV) infections.MethodsThis retrospective study was carried out at the University Hospital Frankfurt, Germany, from 2008 to 2017 on infants aged 4 weeks to 12 months presenting with neurological symptoms consistent with congenital CMV infections.ResultsWe studied 117 infants, and workup data for CMV infections were available for 84%. Of these, 54% were immunoglobulin G‐ and immunoglobulin M‐seronegative for CMV or immunoglobulin G‐seropositive with no viral shedding. Congenital CMV infection was excluded in these cases. In 16%, the CMV workup was incomplete, precluding a definitive diagnosis. Dried blood spots (DBS) were requested from 30%. CMV polymerase chain reaction was negative in 19 of these 29 infants, and CMV deoxyribonucleic acid detection confirmed congenital CMV infections in six patients. DBS had been destroyed in line with German law in four cases. Congenital CMV infections were diagnosed (5%) or excluded (62%) in 67% of patients and unanswered in the remaining 33%.ConclusionDiagnoses of congenital CMV infections were widely considered and found in 5%. CMV was not stringently investigated in all patients or remained elusive due to German law on destroying DBS.
Platform Labor and In/Formality: Organization among Motorcycle Taxi Drivers in Bandung, Indonesia
Authors: Frey Bronwyn 
Published: April 2020

AbstractThere is a growing consensus that emerging forms of flexibilized platform labor (e.g., Upwork, Uber) necessitate new forms of mobilization to resist exploitation, given workers’ atomization and lack of statutory rights. However, Euro‐American concerns about radical reductions in labor security are countered by workforces in the “near South,” where precarious, unprotected work has long been the norm. I explore incrementalist organization in motorcycle taxi (ojek) drivers’ resistance to the flexible labor regime of Go‐Jek, an Indonesian ride‐hailing app. I examineojek pangkalan(older‐style informal‐sector drivers) and Himpunan Driver Bandung Raya (HDBR, a grassroots app‐based driver association) in the city of Bandung. Although antagonistic toward each other, ojek pangkalan and HDBR employ similar improvisatory strategies, notably micro‐territorial basecamps and grassroots social security, to establish claims to their working lives. Incrementalist strategies in Indonesia are thus highly flexible in helping workers manage precarity across formal and informal contexts. By examining organization repertoires among app‐based and older‐style ojek drivers, this paper contributes to discussions about how the precarity of platform labor is produced and managed in a global context.
Effects of pasture and forest microclimatic conditions on the foraging activity of leaf‐cutting ants
Authors: Bustamante Santiago , Amarillo‐Suárez Angela , Wirth Rainer 
Published: April 2020

AbstractThe fragmentation and transformation of land cover modify the microclimate of ecosystems. These changes have the potential to modify the foraging activity of animals, but few studies have examined this topic. In this study, we investigated whether and how the foraging activity of the leaf‐cutter ant Atta cephalotes is modified by microclimatic variations due to land cover change from forest to pasture. We characterized the microclimate of each habitat and identified alterations in foraging behavior in response to relative humidity (RH), air temperature, and surface temperature along ant foraging trails by synchronously assessing foraging activity (number of ants per 5 min including incoming laden and unladen and outgoing ants) and microclimatic variables (air temperature, RH, and maximum and minimum surface temperature along the foraging trail). There were climatic differences between habitats during the day but not throughout the night, and A. cephalotes was found to have a high tolerance for foraging under severe microclimatic changes. This species can forage at surface temperatures between 17 and 45°C, air temperatures between 20 and 36°C, and an RH between 40% and 100%. We found a positive effect of temperature on the foraging activity of A. cephalotes in the pasture, where the species displayed thermophilic behavior and the ability to forage across a wide range of temperatures and RH. These results provide a mechanism to partially explain why A. cephalotes becomes highly prolific as anthropogenic disturbances increase and why it has turned into a key player of human‐modified neotropical landscapes.Abstract in Spanish is available with online material
Seasonal dietary niche contraction in coexisting Neotropical frugivorous bats (Stenodermatinae)
Authors: Shipley Jeremy Ryan , Twining Cornelia W. 
Published: April 2020

AbstractTropical dry forests are characterized by punctuated seasonal precipitation patterns that drive primary production and the availability of fruits, seeds, flowers, and insects throughout the year. In environments in which the quantity and quality of food resources varies seasonally, consumers should adjust their foraging behavior to maximize energy intake while minimizing overlap with competitors during periods of low food availability. Here, we investigated how the diets of frugivorous bats in tropical dry forests of NW Mexico varied in response to seasonal availability and how this affected dietary overlap of morphologically similar species. We performed stable isotope analyses to understand temporal and interspecific patterns of overall isotopic niche breadth, trophic position, and niche overlap in the diet of six frugivorous species of closely related New World leaf‐nosed bats (family Phyllostomidae, subfamily Stenodermatinae). We estimated seasonal changes in resource abundance in two complementary ways: (a) vegetative phenology based on long‐term remote sensing data and (b) observational data on food availability from previously published insect and plant fruiting surveys. In all species, there was a consistent pattern of reduced isotopic niche breadth during periods of low food availability. However, patterns of niche overlap varied between morphologically similar species. Overall, results from our study and others suggest that seasonal food availability likely determines overall dietary niche breadth in Phyllostomidae and that despite morphological specialization, it is likely that other mechanisms, such as opportunistic foraging and spatiotemporal niche segregation, may play a role in maintaining coexistence rather than simply dietary displacement.Abstract in Spanish is available with online material.
The macroeconomic impact of NAFTA termination
Authors: Steinberg Joseph B. 
Published: April 2020

AbstractUS President Trump has threatened to leave the North American Free Trade Agreement. How much would each member country gain or lose if this threat were carried out? Would trade imbalances within the region diminish? What would the transition to new production and consumption patterns look like? I provide quantitative answers to these questions using a dynamic general equilibrium model with a multi‐sector input–output production structure, heterogeneous firms that make forward‐looking export participation decisions, and adjustment frictions in trade and factor markets. Regional trade flows would fall dramatically, and while the US trade deficit with Canada would decline, the deficit with Mexico would grow. Welfare would fall by 0.04%, 0.12%, and 0.2% in the United States, Canada, and Mexico, respectively, and transition dynamics would significantly affect welfare in both the short run and the long run.
Biogeographical analyses to facilitate targeted conservation of orchid diversity hotspots in Costa Rica
Authors: Crain Benjamin J. , Fernández Melania 
Published: April 2020

AbstractAimWe conduct a biogeographical assessment of orchids in a global biodiversity hotspot to explore their distribution and occurrences of local hotspots while identifying geographic attributes underpinning diversity patterns. We evaluate habitat characteristics associated with orchid diversity hotspots and make comparisons to other centres of orchid diversity to test for global trends. The ultimate goal was to identify an overall set of parameters that effectively characterize critical habitats to target in local and global orchid conservation efforts.LocationCosta Rica; Mesoamerica.TaxonOrchidaceae.MethodsData from an extensive set of herbarium records were used to map orchid distributions and to identify diversity hotspots. Hotspot data were combined with geographic attribute data, including environmental and geopolitical variables, and a random forest regression model was utilized to assess the importance of each variable for explaining the distribution of orchid hotspots. A likelihood model was created based on variable importance to identify locations where suitable habitats and unidentified orchid hotspots might occur.ResultsOrchids were widely distributed and hotspots occurred primarily in mountainous regions, but occasionally at lower elevations. Precipitation and vegetation cover were the most important predictive variables associated with orchid hotspots. Variable values underpinning Costa Rican orchid hotspots were similar to those reported at other sites worldwide. Models also identified suitable habitats for sustaining orchid diversity that occurred outside of known hotspots and protected areas.Main conclusionsSeveral orchid diversity hotspots and potentially suitable habitats occur outside of known distributions and/or protected areas. Recognition of these sites and their associated geographic attributes provides clear targets for optimizing orchid conservation efforts in Costa Rica, although certain caveats warrant consideration. Habitats linked with orchid hotspots in Costa Rica were similar to those documented elsewhere, suggesting the existence of a common biogeographical trend regarding critical habitats for orchid conservation in disparate tropical regions.
Redefining significance and reproducibility for medical research: A plea for higherP‐value thresholds for diagnostic and prognostic models
Authors: Steyerberg Ewout W. , Van Calster Ben 
Published: April 2020

AbstractThe role ofP‐values for null hypothesis testing is under debate. We aim to explore the impact of the significance threshold on estimates for the strengths of associations (“effects”) and the implications for different types of epidemiological research. We consider situations with normal distribution of a true effect, while varying the effect size. We confirm the occurrence of “testimation bias”: estimating effect size only if the test was statistically significant leads to exaggerated results. The absolute bias is largest for true effects around 0.7 times the size of the standard error: +220% bias if effects are selected after testing withP < .05, and +335% if tested withP < .005. Less bias was found for testing withP < .20 (+130%) and larger true effect sizes. We conclude that a lowerP‐value threshold for declaring statistical significance implies more exaggeration in an estimated effect. This implies that if a low threshold is used, effect size estimation should not be attempted, for example in the context of selecting promising discoveries that need further validation. Confirmatory studies, such as randomized controlled trials, might stick to the 0.05 threshold if adequately powered, while prediction modelling studies should use an even higher threshold, such as 0.2, to avoid strongly biased effect estimates.
Early access to clozapine in Early Intervention in Psychosis: Hope vs reality. A mixed method service analysis
Authors: Nikolić Nikola , Hill Katherine , Campbell Emogen , Wickramasinghe Vijitha , Whale Richard 
Published: April 2020

AbstractAimImproving access to clozapine is a recognized priority nationally across Early Intervention in Psychosis Services (EIPS) in the UK. Treatment resistance (TR) may be identifiable from early episode psychosis and appears to be characterized by negative symptoms and younger age of onset. This mixed method cross‐sectional snapshot analysis of antipsychotic (AP) prescribing in an EIPS, explored clozapine eligibility (CE) and prioritization of AP prescribing based on choice, selectivity and appropriateness.MethodWe screened 150 service users and 79% (n = 119) were retained after inclusion criteria were applied. We explored CE in all service users who were indicated clozapine based on the product licence (n = 78), and whether there was association between CE and number of hospital admissions, AP trials, age at first episode and duration of untreated psychosis.ResultsFollowing multidisciplinary clinical discussions, we found that 23 service users were CE; 8 were offered and declined clozapine. When compared to non‐CE service users, significant factors associated with CE were history of two or more hospital admissions (Mann‐Whitney U = 269, P = .008), more than two trials of two different APs (Mann‐Whitney U = 517, P ≤ .01), and younger age first episode (independent‐samples t‐test, P = .047). A total of 47.5% of all service users had been started on olanzapine as their first AP, despite high risk of cardiometabolic syndrome.ConclusionWe propose that EIP services adopt a proactive approach in screening for TR, taking into account negative symptoms and young age at onset, prioritizing service users with two or more hospital admissions and AP trials.
Impact of performance status on overall survival in patients with relapsed and/or refractory multiple myeloma: Real‐life outcomes of daratumumab treatment
Authors: Afram Garbriel , Gran Charlotte , Borg Bruchfeld Johanna , Wagner Arnika Kathleen , Hussain Alamdar , Alici Evren , Nahi Hareth 
Published: April 2020

AbstractBackgroundLittle is reported on the real‐life impact of daratumumab in relapsed and/or refractory multiple myeloma patients (RRMM). We analyzed a cohort of 156 patients who received daratumumab as a single agent concerning ECOG status, eGFR, cytogenetics, lines of prior treatment, and their impact on survival.ResultsEighty‐two (53%) patients were triple refractory, 54 (35%) patients were single or double refractory, and 20 (12%) patients were non‐refractory. Following daratumumab treatment, the progression‐free survival (PFS) in these groups was 7.2%, 11.4%, and 53% (P < .001), and overall survival (OS) was 34%, 73%, and 58% (P < .001) at 36 months, respectively. Poor ECOG, three lines of prior treatment, and triple refractoriness were all associated with inferior PFS and OS in a multivariate analysis including ECOG, high‐risk chromosomal aberrations, refractoriness, number of treatment lines, and eGFR.ConclusionDaratumumab remains an attractive treatment option, especially in patients with poor performance and increased frailty. Furthermore, our observations suggest that patients with ECOG 2 and 3 status require additional supportive and/or palliative therapies to compensate for a potentially effective but encompassing late‐line therapy. In conclusion, further prospective studies are needed to elucidate the impact of ECOG 2 and 3 status in patients with RRMM.
Reliability of BOLD signals in chronic stroke‐induced aphasia
Authors: Higgins James , Barbieri Elena , Wang Xue , Mack Jennifer , Caplan David , Kiran Swathi , Rapp Brenda , Thompson Cynthia , Zinbarg Richard , Parrish Todd 
Published: April 2020

AbstractInvestigating the neurobiology of language impairment and treatment in chronic stroke aphasia using fMRI requires an understanding of measurement variability within and between participants. In this multicenter study, we evaluated the scan–rescan reliability of an auditory and visual (written) story comprehension paradigm in stroke participants with aphasia (N = 65) and healthy controls (N = 22). The multi‐modal task was conducted twice (~1 week apart) on separate visits upon study enrolment and twice again at completion three months later. A non‐language visuomotor task was studied in the aphasia group only, which was conducted once per time point (3 months apart). While participants were asked to make responses during the comprehension task, these in‐scanner responses were not recorded. Reliability was assessed using intraclass correlation coefficient (ICC) at both group and individual participant levels. The visual story comprehension condition had higher reliability than the auditory condition in both groups, with participants with aphasia exhibiting lower reliability than controls in both conditions (stroke ICC = .43, healthy ICC = .81). Differences in reliability within the group of participants with aphasia were found to be partially explained by overall language impairment as well as greater head motion. In the participants with aphasia, the visuomotor paradigm was found to have greater reliability than the story comprehension task at equivalent interscan intervals (visuomotor = 0.50, comprehension = 0.34), and its reliability was not associated with language impairment. This work highlights the importance of considering the reliability of fMRI tasks in aphasia research, provides strategies to improve reliability and has potential implications for the field of clinical neuroimaging in general.
Maturation of the microglial population varies across mesolimbic nuclei
Authors: Hope Keenan T. , Hawes Isobel A. , Moca Eric N. , Bonci Antonello , De Biase Lindsay M. 
Published: April 2020

AbstractMicroglia play critical roles during CNS development and undergo dramatic changes in tissue distribution, morphology, and gene expression as they transition from embryonic to neonatal to adult microglial phenotypes. Despite the magnitude of these phenotypic shifts, little is known about the time course and dynamics of these transitions and whether they vary across brain regions. Here, we define the time course of microglial maturation in key regions of the basal ganglia in mice, where significant regional differences in microglial phenotype are present in adults. We found that microglial density peaks in the ventral tegmental area (VTA) and nucleus accumbens (NAc) during the third postnatal week, driven by a burst of microglial proliferation. Microglial abundance is then refined to adult levels through a combination of tissue expansion and microglial programmed cell death. This overproduction and refinement of microglia was significantly more pronounced in the NAc than in the VTA and was accompanied by a sharp peak in NAc microglial lysosome abundance in the third postnatal week. Collectively, these data identify a key developmental window when elevated microglial density in discrete basal ganglia nuclei may support circuit refinement and could increase susceptibility to inflammatory insults.
Temporal processing in the striatum: Interplay between midbrain dopamine neurons and striatal cholinergic interneurons
Authors: Martel Anne‐Caroline , Apicella Paul 
Published: April 2020

AbstractThere has been considerable progress in recent years toward understanding the neuronal mechanisms mediating time perception. Notably, the striatum and its dopamine (DA) input from the ventral midbrain are considered to be central for timing on the scale of hundreds of milliseconds and seconds. The cholinergic interneurons (ChIs) of the striatum provide an extensive local innervation, which closely interacts with striatal DA afferents. Both neuronal systems have been shown to influence synaptic plasticity to shape the transfer of information through the striatum. Given their cooperative role in regulating striatal output pathways, DA and cholinergic inputs may have distinct but complementary roles in timing processes. Electrophysiological recordings from behaving animals have provided evidence that responses of midbrain DA neurons and striatal tonically active neurons (TANs), presumed ChIs, to motivationally relevant events are sensitive to the predicted time of these events; namely, changes in neuronal activity are reduced or absent at times when events are more expected, indicating that temporal aspects of prediction play an important role in the responsiveness of these two neuronal systems. Recently, new findings have further suggested that DA neurons and cholinergic TANs are both involved in the ability to keep track of the elapsed time. These two systems appear to work in parallel in initiating the timing process at the beginning of an interval to be timed. It therefore appears that DA and ChI signaling could participate in striatal processing that is crucial for the control of timing behavior.