bluuebunny/crossref_metadata_2025_split huggingface dataset:
Erythema multiforme, Stevens‐Johnson syndrome/toxic epidermal necrolysis – diagnosis and treatment
Authors: Grünwald Pavel , Mockenhaupt Maja , Panzer Rüdiger , Emmert Steffen 
Published: May 2020

SummaryPrior to the first international consensus classification published in 1993, the clinical distinction between erythema multiforme (EM), Stevens‐Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) had been subject to uncertainty and controversy for more than a century. Based on this classification, the three conditions are defined by the morphology of the individual lesions and their pattern of distribution. Etiopathogenetically, the majority of EM cases is caused by infections (primarily herpes simplex virus andMycoplasma pneumoniae), whereas SJS/TEN are predominantly triggered by drugs. The SCORTEN (score of toxic epidermal necrolysis) can and should be used to assess disease prognosis in patients with SJS/TEN.While supportive treatment is generally considered sufficient for EM, there is still uncertainty as to the type of systemic therapy required for SJS/TEN. Given the lack of high‐quality therapeutic trials and (in some cases) conflicting results, it is currently impossible to issue definitive recommendations for any given immunomodulatory therapy. While there is always a trade‐off between rapid onset of treatment‐induced immunosuppression and an uptick in infection risk, there has been increasing evidence that cyclosporine in particular may be able to halt disease progression (i.e. skin detachment) and lower mortality rates.Assistance in diagnosis and management of the aforementioned conditions may be obtained from the Center for the Documentation of Severe Skin Reactions (dZh) at the Department of Dermatology, University Medical Center, Freiburg, Germany.
Rosacea and perioral dermatitis: a single‐center retrospective analysis of the clinical presentation of 1032 patients
Authors: Hoepfner Andreas , Marsela Enklajd , Clanner‐Engelshofen Benjamin M. , Horvath Orsolya N. , Sardy Miklos , French Lars E. , Reinholz Markus 
Published: May 2020

SummaryBackgroundRosacea is a common chronic inflammatory cutaneous disorder affecting nearly 5.5 % of the adult population. Our aim was to evaluate the prevalence and epidemiology of rosacea and perioral dermatitis (POD) in an ambulatory care setting.MethodsWe retrospectively analyzed medical data of patients with a confirmed diagnosis of rosacea or perioral dermatitis (POD) presenting at our university hospital outpatient clinic during a 3‐year period.ResultsOut of 1032 patients, 81.5 % were diagnosed with rosacea and 18.5 % with POD. Overall prevalence was 1.4 % for rosacea and 0.3 % for POD. 69.3 % of the analyzed patients were female. Overall mean age was 49.3 ± 7.7 (1–92) years; the women’s average age was less than the men’s. Patients with POD were younger and predominantly female, whereas patients with phymatous rosacea were older and predominantly male. The most common phenotypes were papulopustular rosacea (68.4 %), erythematotelangiectatic rosacea (22.5 %), and phymatous rosacea (8.0 %). Special forms of rosacea were diagnosed in 15.8 % of the patients; the most frequent were ocular rosacea (6.9 %) and steroid‐induced rosacea (5.4 %).ConclusionsThe large patient cohort analyzed in our study provides a good estimate of the frequency of the rosacea subtypes, special forms and of perioral dermatitis in a hospital‐based outpatient care setting.
German S1 guidelines for the diagnosis and treatment of perianal dermatitis (anal eczema)
Authors: Weyandt Gerhard , Breitkopf Claudia , Werner Ricardo Niklas , Zidane Miriam , Furtwängler Alex , Jongen Johannes , Rothhaar Alex , Schaefer Daniel , Lenhard Bernhard 
Published: May 2020

SummaryPerianal dermatitis (anal eczema, perianal eczema) is one of the most common proctological conditions. It may occur as a sequela or a presenting symptom of various proctological, dermatological, allergic or pathogen‐induced disorders. The three main types of anal eczema are irritant‐toxic, atopic and allergic contact dermatitis. Adequate and successful treatment requires a comprehensive diagnostic workup to determine disease etiology and includes treatment/elimination of causative factors as well as nonpharmacological interventions (avoidance of aggravating factors). In addition, adjuvant topical anti‐inflammatory and/or specific symptomatic treatment may be required. The present guidelines contain recommendations for the diagnostic and therapeutic management of perianal dermatitis. Target users of these guidelines are clinicians in the fields of dermatology and proctology, as well as all other specialties involved in the management of patients with perianal dermatitis, both in hospital and office‐based settings.
Cryptic speciation in gentoo penguins is driven by geographic isolation and regional marine conditions: Unforeseen vulnerabilities to global change
Authors: Pertierra Luis R. , Segovia Nicolás I. , Noll Daly , Martinez Pablo A. , Pliscoff Patricio , Barbosa Andrés , Aragón Pedro , Raya Rey Andrea , Pistorius Pierre , Trathan Phil , Polanowski Andrea , Bonadonna Francesco , Le Bohec Céline , Bi Ke , Wang‐Claypool Cynthia Y. , González‐Acuña Daniel , Dantas Gisele P. M. , Bowie Rauri C. K. , Poulin Elie , Vianna Juliana A. 
Published: May 2020

AbstractAimThe conservation of biodiversity is hampered by data deficiencies, with many new species and subspecies awaiting description or reclassification. Population genomics and ecological niche modelling offer complementary new tools for uncovering functional units of phylogenetic diversity. We hypothesize that phylogenetically delineated lineages of gentoo penguins (Pygoscelis papua) distributed across Antarctica and sub‐Antarctic Islands are subject to spatially explicit ecological conditions that have limited gene flow, facilitating genetic differentiation, and thereby speciation processes.LocationAntarctica and sub‐Antarctic area.MethodsWe identify divergent lineages for gentoo penguins using ddRAD‐seq and mtDNA, and generated species distribution models (SDMs) based on terrestrial and marine parameters.ResultsAnalyses of our genomic data supports the existence of four major lineages of gentoo penguin: (i) spanning the sub‐Antarctic archipelagos north of the Antarctic Polar Front (APF); (ii) Kerguelen Island; (iii) South America; and (iv) across maritime Antarctic and the Scotia Arc archipelagos. The APF, a major current system around Antarctica, acts as the most important barrier separating regional sister lineages. Our ecological analyses spanning both the terrestrial (breeding sites) and marine (feeding sites) realms recover limited niche overlap among the major lineages of gentoo penguin. We observe this pattern to correspond more closely with regional differentiation of marine conditions than to terrestrial macroenvironmental features.Main conclusionsRecognition of regional genetic lineages as discrete evolutionary entities that occupy distinct ecological niches and also differ morphologically should be considered a priority for conservation. Gentoo penguins provide a good example of how conservation policy can be directly impacted by new insights obtained through the integration of larger genomic datasets with novel approaches to ecological modelling. This is particularly pertinent to polar environments that are among the most rapidly changing environments on earth.
Maximizing detection probability for effective large‐scale nocturnal bird monitoring
Authors: Zuberogoitia Iñigo , Martínez José E. , González‐Oreja José Antonio , de Buitrago Carlos González , Belamendia Gorka , Zabala Jabi , Laso Maite , Pagaldai Nerea , Jiménez‐Franco María V. 
Published: May 2020

AbstractAimOur specific objectives were to (a) estimate detection probabilities of nocturnal bird species, after taking into account survey‐specific covariates, and (b) investigate the influence of site‐specific covariates on owl and nightjar abundance, integrating effects of imperfect detection.InnovationWe conceived a survey protocol to estimate probabilities of detection and estimates of abundance of owls and nightjars in a large area, the Basque Country, northern Spain.Main ConclusionsOur results show that detection probability was strongly influenced by playback broadcast and by observer experience. Date irregularly affected species according to their reproductive periods, and we also found that vocal activity gradually diminished proportionally to the hour after sunset. Tawny owl (Strix aluco) was the most abundant and widely distributed species. Its abundance was positively related to forest areas (mainly pine timber forests) and decreased in large urban and agricultural areas. Open space species were less common. Barn owls (Tyto alba), little owls (Athene noctua), Eurasian scops owls (Otus scops) and long‐eared owls (Asio otus) avoided forest areas, but showed different responses to agriculture, grass‐fields, scrub and urban areas. Finally, European nightjar (Caprimulgus europaeus) was moderately frequent, and its abundance was favoured by scrub areas and, weakly, by eucalyptus patches, whereas it was negatively affected by large forest areas. We have shown that it is fundamental to consider the effects of survey‐specific covariates in the methodology design and analytical development. Our results also indicate some ecological adaptations and population changes in the nocturnal bird community following an increase in urbanization and in the extent of timber plantations, and also the simplification of natural habitats.
Protein self‐marking by emerald ash borer: an evaluation of efficacy and persistence
Authors: Gula Scott W. , Lopez Vanessa M. , Ray Ann M. , Machtley Scott A. , Hagler James R. , Ginzel Matthew D. 
Published: May 2020

AbstractUnderstanding the dispersal ability of invasive insects provides useful insights for developing effective management strategies. Historically, methods for marking insects for dispersal studies have been expensive, time‐consuming, labor‐intensive, and oftentimes ineffective, especially for woodboring beetles. Also, capturing or rearing insects requires human handling, which can alter behavior. Protein immunomarking is a well‐established technique for studying the dispersal of insects; however, it has not been applied to woodborers. This study evaluates the potential for using protein immunomarkers applied directly to woodborer‐infested trees to mark emerging beetles. Specifically, in the first experiment, we sprayed varying concentrations of ovalbumin (egg white) solution directly onto logs infested with emerald ash borer (EAB),Agrilus planipennisFairmaire (Coleoptera: Buprestidae, Agrilini). In turn, an enzyme‐linked immunosorbent assay was used to detect the presence of protein on emerged beetles. To test the persistence of the mark, we applied varying concentrations of albumin to freeze‐killed beetles, mounted them on pins, and placed them over various time intervals in an exposed location outdoors. Adult EAB self‐marked as they emerged from protein‐treated trees, with higher protein concentrations persisting for longer on the cuticle. This technique offers a convenient, inexpensive, and durable means of marking woodborers and circumvents the need for human handling, allowing for more natural behavior and more realistic estimates of dispersal. Protein self‐marking may find application in studies of woodborer dispersal within natural forest environments.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Authors: Tang Shan , Addis Laura , Smith Anna , Topp Simon D. , Pendziwiat Manuela , Mei Davide , Parker Alasdair , Agrawal Shakti , Hughes Elaine , Lascelles Karine , Williams Ruth E. , Fallon Penny , Robinson Robert , Cross Helen J. , Hedderly Tammy , Eltze Christin , Kerr Tim , Desurkar Archana , Hussain Nahin , Kinali Maria , Bagnasco Irene , Vassallo Grace , Whitehouse William , Goyal Sushma , Absoud Michael ,   EuroEPINOMICS‐RES Consortium, Møller Rikke S. , Helbig Ingo , Weber Yvonne G. , Marini Carla , Guerrini Renzo , Simpson Michael A. , Pal Deb K. 
Published: May 2020

AbstractObjectiveWe aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).MethodsWe deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention‐deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies.ResultsWe analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range = 6‐72 months). The main seizure types were myoclonic atonic or atonic in 100%, generalized tonic‐clonic in 72%, myoclonic in 69%, absence in 60%, and tonic seizures in 19% of patients. We observed intellectual disability in 62% of patients, with extremely low adaptive behavioral scores in 69%. In addition, 24% exhibited symptoms of autism and 37% exhibited attention‐deficit/hyperactivity symptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, including five previously published patients. These were pathogenic genetic variants in SYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2, SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three new candidate genes, ASH1L, CHD4, and SMARCA2 in one patient each.SignificanceMAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.
Seasonal and diel plasticity of song type use in individual ovenbirds (Seiurus aurocapilla)
Authors: Thompson Megan J. , Pearse Kendriah A. , Foote Jennifer R. 
Published: May 2020

AbstractAnimal communication is an important aspect of ecology across taxa, and there is a growing area of research that examines how animals plastically adjust their signals to account for both abiotic and biotic factors. Song type use and the temporal plasticity of song have been described in many bird species, but as of yet, few studies have examined how song type use may change across both seasonal and diel timeframes, and no studies have considered individual‐level variation in plasticity. Using a hierarchical framework, we examined temporal patterns of primary and flight song use in ovenbirds (Seiurus aurocapilla; N = 21 individuals). We recorded ovenbird songs (N = 99,259) with autonomous recorders over 24‐hr periods once per week across a breeding season near Sault Ste. Marie, Canada. As predicted, the occurrence and frequency of both song types significantly decreased over the season and showed temporal separation over diel periods. Primary songs peaked at dawn and declined throughout the day, while flight songs peaked at dusk and night. Our results support that primary songs have multiple functions as they remained more frequent during dawn and morning across the breeding season, while flight songs likely serve an intersexual function as they decreased similarly for all diel periods as mating opportunities decreased. Individuals were consistent in how frequently they sang their primary songs, but not their flight songs, suggesting that flight songs are more plastically expressed. We highlight the importance of examining plasticity in animal communication at the individual level as we show that males significantly differed in both their song behaviours (random intercepts) and the seasonal plasticity (random slopes) in these behaviours. Integrating themes such as song type use, temporal plasticity, and individual variation will be important for examining the evolutionary mechanisms that shape animal communication systems.
Over‐expressed MST1 impaired spatial memory via disturbing neural oscillation patterns in mice
Authors: Shang Yingchun , Yan Yuxing , Chen Bin , Zhang Jianhai , Zhang Tao 
Published: May 2020

AbstractThe activated mammalian Ste20‐like serine/threonine kinases 1 (MST1) was found in the central nervous system diseases, such as cerebral ischemia, stroke and ALS, which were related with cognitions. The aim of this study was to examine the effect of elevated MST1 on memory functions in C57BL/6J mice. We also explored the underlying mechanism about the pattern alteration of neural oscillations, closely associated with cognitive dysfunctions, at different physiological rhythms, which were related to a wide range of basic and higher‐level cognitive activities. A mouse model of the adeno‐associated virus (AAV)‐mediated overexpression of MST1 was established. The behavioral experiments showed that spatial memory was significantly damaged in MST1 mice. The distribution of either theta or gamma power was clearly disturbed in MST1 animals. Moreover, the synchronization in both theta and gamma rhythms, and theta‐gamma cross‐frequency coupling were significantly weakened in MST1 mice. In addition, the expressions of GABAA receptor, GAD67 and parvalbumin (PV) were obviously increased in MST1 mice. Meanwhile, blocking MST1 activity could inhibit the activation of FOXO3a and YAP. The above data suggest that MST1‐overexpression may induce memory impairments via disturbing the patterns of neural activities, which is possibly associated with the abnormal GABAergic expression level.
Patterns of elderly people's long‐term care risks and determinants: A methodological study in a Japanese city
Authors: Sato (Osaki) Kanae , Zhang Junyi , Kazawa Kana , Moriyama Michiko 
Published: May 2020

AimsExisting analysis methods about the relationships between the long‐term care (LTC) risks and determinants of the elderly often experience issues of independence, linearity and homogeneity. Such methodological issues are particularly problematic when the relationships are complicated, making the prioritization of LTC interventions to groups with different care needs difficult. To overcome these shortcomings, this study made an initial attempt to identify representative patterns of elderly people's LTC risks associated with different determinants, from a methodological perspective.MethodsA data mining approach (Exhaustive CHAID) is applied to data collected from 26 357 elderly people in a Japanese city in 2016. It can automatically segment the samples into a tree structure that accommodates nonlinear, heterogeneous and sequential relationships, without caring about issues of independence across determinants.ResultsIn total, 16 representative patterns are derived, among which four patterns are considerably riskier (the unhealthy percentage >10.0%), and five are moderately riskier (the unhealthy percentage is 5.0%–10.0%). Age is the most important determinant, followed by locomotor function, cognitive function, homebound, gender and residential location, in that order, which all show heterogeneous associations with the risk patterns.ConclusionsThe Exhaustive CHAID is suitable to derive scientifically‐sound insights into an early screening of risk factors for pre‐frail groups and tailor‐made preventive LTC interventions for frail groups in a flexible and objective way. Geriatr Gerontol Int 2020; 20: 674–679.
Determination of the Isotopic Composition of an Enriched Hafnium Spike by MC‐ICP‐MS Using a Regression Model
Authors: Lin Ran , Lin Jie , Zong Keqing , Chen Kang , Tong Shuoyun , Feng Lanping , Zhang Wen , Li Ming , Liu Yongsheng , Hu Zhaochu , Zhou Lian 
Published: May 2020

The isotope dilution (ID) method, owing to its high precision, is extensively used for the determination of element mass fractions in a wide range of natural samples. One of the prerequisites of the ID method is knowledge of the isotopic composition of an enriched spike, which is often challenging to accurately determine. In this study, we employ a regression mass bias correction model to accurately and precisely measure the isotopic composition of an enriched Hf spike (Lot No. 159293, Oak Ridge National Laboratory). A NIST SRM 3134 Re solution, whose isotopic composition was calibrated by an NRC IRIS‐1 Ir isotope standard, was used to calibrate the isotopic composition of the Hf spike. The obtained ratios of 176Hf/177Hf, 179Hf/177Hf and 180Hf/177Hf were 0.2406 ± 0.0005 (u, k = 1), 2.8620 ± 0.0005 (u, k = 1) and 384.65 ± 0.05 (u, k = 1), respectively, which meet the required precision levels for Hf isotopes in the application of the ID method. The combined uncertainties of the calibrated Re and Hf isotope ratios were evaluated using a Monte Carlo method, in which the uncertainty of the primary calibrator (IRIS‐1, 193Ir/191Ir = 1.6866 ± 0.0005, u, k = 1) was also taken into consideration. The precision of Hf spike was improved significantly compared with the SSB and C‐SSBIN methods. To the best of our knowledge, this is the first report of isotope ratio calibration in an enriched spike using the regression model. The precisely calibrated spike can lower the uncertainty of the Hf mass fraction significantly, thereby increasing the accuracy of the Lu‐Hf chronometer.
Laboratory issues in gene therapy and emicizumab
Authors: Bowyer Annette E. , Lowe Anna E. , Tiefenbacher Stefan 
Published: May 2020

AbstractThe treatment options for the haemostatic disorders, haemophilia A and haemophilia B, have progressed rapidly over the last decade. The introduction of extended half‐life recombinant factor VIII (FVIII) and factor IX (FIX) concentrates to replace these missing clotting factors highlighted discordance between one‐stage activated partial thromboplastin time (APTT)‐based clotting factor assays and chromogenic factor assays with some products. This raised awareness of the importance of investigation of potential reagent or assay differences by pharmaceutical companies. In 2017, the FVIII mimetic, emicizumab, was approved as a prophylactic treatment for haemophilia A patients with anti‐FVIII inhibitors. The mechanism of action of emicizumab causes interference with some commonly used haemostasis tests including the APTT and its associated one‐stage APTT‐based clotting assays. Chromogenic assays may also be affected but this is dependent on the particular constituents of the reagents. Chromogenic assays containing human factor IXa (FIXa) and factor X (FX) are sensitive to the presence of emicizumab but those containing bovine FIXa and FX are unaffected. Many haemostasis laboratories have been required to evaluate new assays to enable accurate monitoring of emicizumab in patient plasma. A number of gene therapy approaches have been trialled in both haemophilia A and haemophilia B but there are scant data published on the measurement of FVIII and FIX in these patients and whether there are discrepancies between reagents or assay methodologies.
Redefining prophylaxis in the modern era
Authors: Mahlangu Johnny N. , Blanchette Victor , Klamroth Robert 
Published: May 2020

AbstractProphylaxis is the globally accepted standard of care for persons with haemophilia and presents many advantages over episodic treatment. The prophylaxis benefits include bleed reduction, reduction in musculoskeletal complications and improvement in the quality of life. The currently evolving novel therapies for the management of haemophilia has ushered a new era characterized by improved prophylaxis targets and outcomes. These redefined targets and outcomes have necessitated the need to also redefine prophylaxis. In this state‐of‐the‐art review, we redefine prophylaxis in the modern era by revisiting its definition, presenting data to support higher trough levels to achieve with prophylaxis and introducing steady‐state haemostasis as a possible new target for prophylaxis.