bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series
Authors: Tomioka Daisuke , Kato Koichi , Ozawa Tomoya , Kodama Kenji , Takahashi Hiroaki , Dochi Kenichi , Ueno Yoshiki , Nakagawa Yoshihisa 
Published: February 2021

Abstract

Background
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Studies suggest that vasospastic angina (VSA) is associated with AFD.

Case summary
This clinical case series aimed to present two female patients with AFD, including progressive cardiac involvement: a 50-year-old woman (patient number 1) and a 39-year-old woman (patient number 2) who are siblings with a male AFD patient harbouring p. Arg342Glu missense variant in alpha-galactosidase A gene (GLA), who suffered VSA and subsequent ventricular fibrillation. Enzymatic tests and genetic analysis confirmed AFD in both female patients and histological tests revealed globotriaosylceramide deposits in their hearts. In patient number 1, a 12-lead electrocardiography and transthoracic echocardiography revealed cardiac hypertrophy. Coronary angiography revealed no organic coronary artery stenosis and vasospasms was induced by spasm provocation test. In patient number 2, no signs of cardiac hypertrophy were found, and coronary arteries had no organic stenosis with negative spasm provocation test. Both patients received enalapril therapy and enzyme replacement therapy (ERT).

Discussion
Different phenotype of AFD was occurred even with the same genetic variant in female heterozygote patients. The duration of exposing accumulation of Gb3 might affect cardiac hypertrophy and vasospasms. Coronary angiography with acetylcholine provocation test should be considered in female AFD patient, especially in case with cardiac hypertrophy.
Utility of coherent and ripple mapping for post-mitral valve plasty biatrial macro-re-entrant tachycardia: a case report
Authors: Sagawa Yuichiro , Yamauchi Yasuteru , Okishige Kaoru , Sasano Tetsuo 
Published: February 2021

AbstractBackground Biatrial tachycardia (BiAT) is a rare form of atrial macro-re-entrant tachycardia. Precise identification of interatrial connections and circuits of the BiAT is difficult. And incomplete understanding of the re-entrant circuit may lead to unnecessary ablation, thus increasing the risk of complications.Case summary A 69-year-old man with a history of mitral valve plasty for mitral regurgitation due to mitral valve prolapse was admitted for persistent atrial tachycardia. Electrophysiological examination using the CARTO mapping system was performed. A coherent map revealed an atrial tachycardia with a cycle length of 304 ms and a re-entrant circuit involving the left atrial septum and right atrial septum, while a ripple map suggested an epicardial interatrial connection between the right atrium and left atrium. Radiofrequency ablation on the epicardial connection successfully terminated BiAT without complications.Discussion In BiAT using both atrial septum as a re-entrant circuit, an interatrial connection or an atrial septum can be the target site for ablation. However, septal ablation can be challenging because of the risk of atrioventricular block or interatrial conduction delay, and minimal line or point ablation is needed. Coherent and ripple mapping can accurately determine the re-entrant circuit and interatrial connection of BiAT and reduce complication risks by terminating the atrial tachycardia with minimal ablation.
Case report of an acute myocardial infarction after high-dose recreational nitrous oxide use: a consequence of hyperhomocysteinaemia?
Authors: Oomens Thomas , Riezebos Robert K , Amoroso Giovanni , Kuipers Remko S 
Published: February 2021

Abstract

Background
Nitrous oxide (N2O, laughing gas) is increasingly used as a recreational drug and is presumed relatively safe and innocent. It is often being used in combination with other substances, such as cannabis.

Case summary
A young adult attended the emergency room because of chest pain after recreational use of very high-dose nitrous oxide in combination with cannabis. Electrocardiography demonstrated ST-elevation in the anterior leads. Coronary angiography showed thrombus in the proximal and thrombotic occlusion of the distal left anterior descending coronary artery for which primary percutaneous coronary intervention was attempted. Thrombus aspiration was unsuccessful and the patient was further treated with a glycoprotein IIb/IIIa in addition to dual platelet therapy. Blood results showed low vitamin B12 and folic acid status with concomitant hyperhomocysteinaemia, a known cause of hypercoagulation. Transthoracic echocardiogram showed a moderately reduced left ventricular ejection fraction (LVEF). Three months later, an improvement in LVEF and no recurrent angina or symptoms of heart failure were noticed.

Discussion
We report a case of acute myocardial infarction secondary to very high-dose nitrous oxide abuse in combination with cannabis and possible hypoxia. We propose that severe hyperhomocysteinaemia secondary to nitrous oxide-induced vitamin B12 deficiency together with the vasoconstrictive effects of cannabis might pose a seriously increased risk for intracoronary, among others, thrombus formation. In conclusion, we contest the safety and innocence of recreational nitrous oxide (ab)use, notably in the context of other factors increasing the risk of coagulation.
Haemodynamic collapse immediately after transcatheter aortic valve implantation due to dynamic intraventricular gradient: a case report and review of the literature
Authors: Endo Nana , Otsuki Hisao , Domoto Satoru , Yamaguchi Junichi 
Published: February 2021

Abstract

Background
Dynamic intraventricular obstruction after transcatheter aortic valve implantation (TAVI) has been previously reported. There is a risk of haemodynamic collapse in the case of left ventricular outflow tract (LVOT) obstruction due to systolic anterior motion (SAM) of the mitral valve.

Case summary
An 83-year-old woman with aortic stenosis (AS) was referred to our hospital for TAVI. Transthoracic echocardiography revealed a severely calcified aortic valve with a peak velocity of 6.3 m/s across the valve. Acceleration of blood flow (peak velocity 2.6 m/s) at the LVOT due to a septal bulge was also seen. Transfemoral TAVI was performed, and a 29 mm Evolut PRO was implanted under general anaesthesia. After the implantation, a complete atrioventricular block with junctional rhythm developed, and refractory hypotension occurred immediately. Transoesophageal echocardiography revealed LVOT obstruction due to SAM of the mitral valve associated with severe mitral regurgitation (MR), which was not observed preoperatively. Fluid infusion and catecholamine administration were not effective. However, after performing temporary pacing from the right ventricular (RV) apex, the LVOT obstruction and severe MR improved. Her haemodynamics stabilized, and we could complete the procedure. A dual-chamber permanent pacemaker with beta-blocker administration as a longer-term treatment further improved the LVOT obstruction. The patient was finally discharged to a rehabilitation hospital.

Discussion
Alertness and recognition of potential LVOT obstruction after TAVI are important. Pacing from the RV apex, as well as dual-chamber pacing, comprise a less invasive and feasible therapeutic option in such cases.
A comparison of the size at maturity of female American lobsters (Homarus americanus) over three decades and across coastal areas of the Gulf of Maine using ovarian staging
Authors: Waller Jesica D , Reardon Kathleen M , Caron Sarah E , Jenner Blaise P , Summers Erin L , Wilson Carl J 
Published: February 2021

Abstract
The carapace length (CL) at which American lobster (Homarus americanus) females reach maturity can be used to evaluate egg production, growth patterns, and the overall health of lobster stocks. The female maturity datasets used to represent Gulf of Maine (GOM) lobsters in the 2015 Atlantic States Marine Fisheries Commission American Lobster Stock Assessment were collected in the 1990s by the Maine Department of Marine Resources at two coastal sites. Many studies have demonstrated an inverse relationship between temperature and the size at maturity in female lobsters, and GOM waters have warmed significantly over this period. To update these GOM maturity datasets, we used ovarian staging to determine the maturity status of over 1200 females from fives sites over 3 years. Broad application of this methodology in tandem with key growth measurements on females 50–120 mm CL allowed us to characterize reproductive development and generate maturity ogives (proportion mature at a given CL). We observed a latitudinal gradient in the size at maturity across this coastal region of the GOM and quantified a decrease in this size over 25 years. These findings have implications for future stock assessment approaches and management measures implemented to sustain this valuable fishery.
Landau–Ginzburg/Calabi–Yau Correspondence for a Complete Intersection via Matrix Factorizations
Authors: Zhao Yizhen 
Published: February 2021

AbstractBy generalizing the Landau–Ginzburg/Calabi–Yau correspondence for hypersurfaces, we can relate a Calabi–Yau complete intersection to a hybrid Landau–Ginzburg model: a family of isolated singularities fibered over a projective line. In recent years Fan, Jarvis, and Ruan have defined quantum invariants for singularities of this type, and Clader and Clader–Ross have provided an equivalence between these invariants and Gromov–Witten invariants of complete intersections, in this way quantum cohomology yields an identification of the cohomology groups of the Calabi–Yau and of the hybrid Landau–Ginzburg model. It is not clear how to relate this to the known isomorphism descending from derived equivalences (due to Segal and Shipman, and Orlov and Isik). We answer this question for Calabi–Yau complete intersections of two cubics.
The police and ‘the balance’—managing the workload within Swedish investigation units
Authors: Liljegren Andreas , Berlin Johan , Szücs Stefan , Höjer Staffan 
Published: February 2021

Abstract
Professionals within street-level organizations are essential for the delivery of public services to citizens. However, among a number of difficult dilemmas, they have to deal with an extensive workload. The police can be seen as a good example of this; they are expected to solve most crimes, including the so-called mass crimes and the more spectacular cases that make it into media headlines, and often on a continually decreasing budget. A key regulating mechanism for investigation departments in the Swedish police is the so-called balance. The balance can be described as a basket in which they put the cases that there is a desire and potential to work on but not in the immediate term. The purpose of this article is to analyse the balance as a way of rationing the workload within the Swedish police. Working with the balance consists of two processes: limiting and buffering the workload. Limiting is the practice of reducing the work in a situation. Buffering is the process of putting some work on hold to deal with later, of which the article identifies five kinds; functional, problematic, quasi, progressive, and symbolic buffering. The exploration of ‘the balance’ contributes to our understanding of how street level organizations attempt to defend their professional jurisdictions, their well-being, and their ability to complete their duties.
Surgical case report—acalculous hemorrhagic cholecystitis
Authors: Leaning Matthew 
Published: February 2021

Abstract
Haemorrhagic cholecystitis is a seldom seen cause of right upper quadrant pain that can result in gallbladder rupture, massive intraperitoneal haemorrhage and death if untreated. Haemorrhagic cholecystitis is usually seen in the presence of cholelithiasis, malignancy, trauma and coagulopathies. Here, we present the unusual case of an elderly man presenting with acalculous haemorrhagic cholecystitis, who was successfully treated with laparoscopic cholecystectomy. We review the radiological and laparoscopic findings of haemorrhagic acalculous cholecystitis. This case highlights the importance of prudent use of radiological imaging to differentiate haemorrhagic cholecystitis from alternate pathology and early surgical intervention to avoid massive intraperitoneal haemorrhage and the high mortality with which it is associated.
The Bylaws of Frankfurt’s Neo-Orthodox Synagogue: A Developmental History
Authors: Kimche J J 
Published: February 2021

ABSTRACT
This essay seeks to present the history and context of the ‘Synagogenordnungen’, the synagogal bylaws that German-Jewish communities established in the middle and late nineteenth century. Focusing primarily upon the bylaws instituted within the Israelitische Religionsgesellschaft (IRG), the Neo-Orthodox synagogue in Frankfurt am Main, this essay argues that these ordinances reflect the uniquely centrist character of that synagogue, as it concomitantly rejected the encroachment of Reform Judaism and embraced many elements of the surrounding Germanic cultural norms and mores. By examining both the contextual framework and the historical development of the three iterations of these bylaws (written in 1874, 1907, and 1927 respectively) it is possible to gain a large measure of insight into both the ideological priorities of the IRG’s leadership and the practical manner in which these priorities were acted upon.
Sigrid Nunez on the Writer’s Life
Authors: Sun Lu 
Published: February 2021

Abstract
The Friend (2018), the seventh novel of Sigrid Nunez, won the 2018 National Book Award for Fiction. It not only tells a touching story about the human-canine bond between the narrator and a huge Great Dane but also involves much meditation on writing as a profession and the universal concerns of humanity. Looking back at her writing career, Nunez talks about her beliefs as a writer, her observation of the contemporary literary scene, her evaluation of the status of fiction in the current era, her teaching experiences in writing programs, and her personal story as a child of immigrants and a former assistant to Susan Sontag. According to Nunez, a life of solitude is conducive to writing books, and experiences of frustration are normal for a writer. However, she maintains that writing should be seen as a vocation instead of a means of self-advancement. With respect to new trends in literary culture, Nunez believes the house of fiction does have many rooms, and the definition of a novel has become much broader.
Rotational Angiography-Based Gamma Knife Radiosurgery for Brain Arteriovenous Malformations: Preliminary Therapeutic Outcomes of the Novel Method
Authors: Shinya Yuki , Hasegawa Hirotaka , Shin Masahiro , Kawashima Mariko , Sugiyama Takehiro , Ishikawa Osamu , Koizumi Satoshi , Suzuki Yuichi , Nakatomi Hirofumi , Saito Nobuhito 
Published: February 2021

Abstract

BACKGROUND
High-definition vascular imaging is desirable for treatment planning in Gamma Knife radiosurgery (GKRS; Elekta AB) for brain arteriovenous malformations (BAVMs). Currently, rotational angiography (RA) provides the clearest 3-dimensional visualization of niduses with high spatial resolution; however, its efficacy for GKRS has not been clarified. At our institution, RA has been integrated into GKRS (RA-GKRS) for better treatment planning and outcomes since 2015.

OBJECTIVE
To evaluate RA-GKRS outcomes of BAVMs and compare them with conventional GKRS (c-GKRS) outcomes.

METHODS
We retrospectively analyzed the radiosurgical outcomes of 50 BAVMs treated with RA-GKRS compared with the 306 BAVMs treated with c-GKRS. Considering possible differences in the baseline characteristics, we also created propensity score-matched cohorts and compared the radiosurgical outcomes between them to ensure comparability.

RESULTS
The obliteration time was shorter in the RA-GKRS group (cumulative rate, 88% vs 65% at 4 yr [P = .001]). Multivariate Cox proportional hazards analysis demonstrated that the RA-GKRS group (hazard ratio 2.38, 95% CI 1.58-3.60; P = .001) had a better obliteration rate. The cumulative 4-yr post-GKRS hemorrhage rates were 4.0% and 2.6% in the RA-GKRS and c-GKRS groups, respectively (P = .558). There was a trend toward early post-GKRS signal change in the RA-GKRS group compared with the c-GKRS group (cumulative rate, 38% vs 29% at 2 yr; P = .118). Those results were also confirmed in the matched cohort analyses.

CONCLUSION
The integration of RA into GKRS is promising and may provide earlier nidus obliteration.
Selumetinib normalizes Ras/MAPK signaling in clinically relevant neurofibromatosis type 1 minipig tissues in vivo
Authors: Osum Sara H , Coutts Alexander W , Duerre Dylan J , Tschida Barbara R , Kirstein Mark N , Fisher James , Bell W Robert , Delpuech Oona , Smith Paul D , Widemann Brigitte C , Moertel Christopher L , Largaespada David A , Watson Adrienne L 
Published: February 2021

Abstract

Background
The MEK1/2 inhibitor selumetinib was recently approved for neurofibromatosis type 1 (NF1)-associated plexiform neurofibromas, but outcomes could be improved and its pharmacodynamic evaluation in other relevant tissues is limited. The aim of this study was to assess selumetinib tissue pharmacokinetics (PK) and pharmacodynamics (PD) using a minipig model of NF1.

Methods
WT (n = 8) and NF1 (n = 8) minipigs received a single oral dose of 7.3 mg/kg selumetinib. Peripheral blood mononuclear cells (PBMCs), cerebral cortex, optic nerve, sciatic nerve, and skin were collected for PK analysis and PD analysis of extracellular regulated kinase phosphorylation (p-ERK) inhibition and transcript biomarkers (DUSP6 & FOS).

Results
Key selumetinib PK parameters aligned with those observed in human patients. Selumetinib concentrations were higher in CNS tissues from NF1 compared to WT animals. Inhibition of ERK phosphorylation was achieved in PBMCs (mean 60% reduction), skin (95%), and sciatic nerve (64%) from all minipigs, whereas inhibition of ERK phosphorylation in cerebral cortex was detected only in NF1 animals (71%). Basal p-ERK levels were significantly higher in NF1 minipig optic nerve compared to WT and were reduced to WT levels (60%) with selumetinib. Modulation of transcript biomarkers was observed in all tissues.

Conclusions
Selumetinib reduces MAPK signaling in tissues clinically relevant to NF1, effectively normalizing p-ERK to WT levels in optic nerve but resulting in abnormally low levels of p-ERK in the skin. These results suggest that selumetinib exerts activity in NF1-associated CNS tumors by normalizing Ras/MAPK signaling and may explain common MEK inhibitor-associated dermatologic toxicities.
Selection of Entertainment Media
Authors: Luong Kate T. , Knobloch-Westerwick Silvia 
Published: February 2021

Abstract
The current chapter first reviews the theoretical propositions of and empirical evidence for mood management theory (MMT, Zillmann, 1988a), which proposes that media users select media messages in order to hedonically optimize their mood; namely, to increase the valence and regulate the arousal of their moods, and to avoid content relevant to negative moods. However, media users do sometimes select messages (e.g., tragedy movies or sad music) contrary to the predictions of MMT. Thus, we complement this perspective by reviewing a more recent model, the selective exposure self- and affect-management (SESAM) model (Knobloch-Westerwick, 2015), which shares methodological roots with MMT and focuses on how media users select messages not only to improve their moods but also to manage their self-concepts and fulfill their self-related motivations. Finally, future directions for selective exposure research are discussed.
Media Entertainment as Guilty Pleasure?
Authors: Reinecke Leonard , Meier Adrian 
Published: February 2021

Abstract
Using media, specifically those that offer entertainment, frequently conflicts with other goals and obligations in daily life. Users can manage these conflicts either by applying self-control and upholding their goals, or by giving in to media temptations, which elicits negative emotional appraisals such as guilt that potentially spoil entertainment experiences. Currently, a systematic integration of self-control and entertainment theory is direly needed to guide future work in this area. The goals of the present chapter are thus threefold: (1) It provides a theoretical explication of the central components of self-control and subsequently (2) introduces the appraisal of media use, self-control, and entertainment (AMUSE) model. The AMUSE model systematizes the available empirical evidence on the role of self-control for the selection, processing, and effects of (entertaining) media content and, on this basis, the chapter (3) provides testable propositions for future research.
Advances in Research on the Model of Intuitive Morality and Exemplars (MIME)
Authors: Eden Allison , Tamborini Ron , Aley Melinda , Goble Henry 
Published: February 2021

Abstract
This chapter describes the model of intuitive morality and exemplars (MIME), which examines connections between moral judgment and exposure to narrative media. The MIME explicates distinct, a priori–defined domains of moral intuitions that cut across cultural boundaries and identifies underlying processes that shape related social perceptions to describe how media and moral judgment are intertwined. The model’s dual-process perspective suggests some moral judgments are determined by quick gut reflexes and others by reflective deliberation. The MIME’s multistage process contains short-term and long-term components. The short-term component describes how exemplars that prime moral intuitions affect the appraisal of media content, which then prompts selective exposure to media that upholds primed intuitions. The long-term component describes how aggregate patterns of exposure to media that upholds primed intuitions encourages further (mass) production of content featuring those intuitions. This reciprocal process describes how media systems and audiences influence the salience of one another’s moral intuitions.
Player-Avatar Identification, Relationships, and Interaction
Authors: Bowman Nicholas David , Banks Jaime 
Published: February 2021

Abstract
Some argue the entertainment potential of video games lies in interactivity—exercising agency over on-screen content. This potential is perhaps best represented by the avatar, which stands as players’ de facto representative in digital worlds. The player-avatar bond is often studied through the lens of identification: a process by which players recognize and temporarily adopt properties or perspectives of another. However, identification is only one way that players can experience avatars. Evidence suggests that player-avatar relationships are variably social, ranging from completely asocial and functional (avatars as “pieces on a gameboard”) to fully social and richly emotional relationship (avatars as “people in a world”), with identification processes (avatars as “just like me”) situated within that sociality continuum. This chapter outlines conceptual and empirical arguments related to how video game players identify as, relate to, and interact with game avatars in order to better understand entertainment experiences in video games.