bluuebunny/crossref_metadata_2025_split huggingface dataset:
Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic
Authors: Niederau Claus , Regenbogen Claudia , Fruehauf Hans-Martin , Merkel Martin , Ziagaki Athanasia , Mengel Eugen , Baerwald Christoph , Muschol Nicole , Staufner Christian , Lampe Christina , Gillessen Anton , Koehler Jan Philipp , vom Dahl Stephan 
Published: April 2023

Abstract
Background Continuation of standard management of Gaucher disease
(GD) has been challenging during the COVID-19 pandemic, resulting in infrequent/missed
infusions and follow-up appointments. Little data are available on the consequences of these
changes and on the SARS-CoV-2 vaccinations in German GD patients.
Methods A survey with 22 questions about GD management during the
pandemic was sent to 19 German Gaucher centres. It was answered by 11/19 centres caring for
257 GD patients (almost ¾ of the German GD population); 245 patients had type 1 and 12 had
type 3 GD; 240 were ≥ 18 years old.
Results Monitoring intervals were prolonged in 8/11 centres from
a median of 9 to 12 months. Enzyme replacement therapy (ERT) was changed to home ERT in 4
patients and substituted by oral substrate reduction therapy (SRT) in 6 patients. From March
2020 to October 2021, no serious complications of GD were documented. Only 4 SARS-CoV-2
infections were reported (1.6%). Two infections were asymptomatic and two mild; all occurred
in adult type 1, non-splenectomized patients on ERT. Vaccination rate in adult GD was 79.5%
(95.3% mRNA vaccines). Serious vaccination complications were not reported.
Conclusions The COVID-19 pandemic has lowered the threshold for
switching from practice- or hospital-based ERT to home therapy or to SRT. No major GD
complication was documented during the pandemic. Infection rate with SARS-CoV-2 in GD may
rather be lower than expected, and its severity is mild. Vaccination rates are high in GD
patients and vaccination was well tolerated.
Clinical Manifestation of AGE-RAGE Axis in Neurodegenerative and
Cognitive Impairment Disorders
Authors: Naz Sabreena , Mahmood Tarique , Gupta Ramesh , Siddiqui Mohammed Haris , Ahsan Farogh , Ansari Vaseem Ahamad , Shamim Arshiya , Rizvi Ali Abbas 
Published: April 2023

AbstractThe receptor of Advanced Glycation Endproducts (RAGE) and Advanced Glycation
Endproducts (AGE) have multiple functions in our body and their restraint are
being observed in neurodegenerative and memory impairment disorders. The review
of different pathways allows an understanding of the probable mechanism of
neurodegeneration and memory impairment involving RAGE and AGE. Commonly we
observe AGE accumulation in neural cells and tissues but the extent of
accumulation increases with the presence of memory impairment disorder. The
presence of AGEs can also be seen in morbid accumulation, pathological
structures in the form of amyloid clots, and nervous fibrillary tangles in
Alzheimer’s Disease (AD) and memory impairment disease.Many neuropathological and biochemical aspects of AD are explained by AGEs,
including widespread protein crosslinking, glial activation of oxidative stress,
and neuronal cell death. Oxidative stress is due to different reasons and
glycation end products set in motion and form or define various actions which
are normally due to AGE changes in a pathogenic cascade. By regulating the
transit of ß-amyloid in and out of the brain or altering inflammatory
pathways, AGE and it’s ensnare receptor such as soluble RAGE may
function as blockage or shield AD development. RAGE activates the
transcription-controlling factor Necrosis Factor (NF-κB) and increases
the protraction of cytokines, like a higher number of Tumor Necrosis Factor
(TNF-α) and Interleukin (IL-I) by inducing several signal transduction
cascades. Furthermore, binding to RAGE can pro-activate reactive oxygen species
(ROS), which is popularly known to cause neuronal death.
Diffusion Tensor Imaging to Predict Neurodevelopmental Impairment in Infants after Hypoxic–Ischemic Injury
Authors: Tabacaru Christa , Braimah Adebayo , Kline-Fath Beth , Parikh Nehal , Merhar Stephanie 
Published: April 2023

Objective Magnetic resonance imaging (MRI) is the standard of care for evaluation of brain injury after hypoxic–ischemic encephalopathy (HIE) in term newborns. This study utilizes diffusion tensor imaging (DTI) to (1) identify infants at highest risk of development of cerebral palsy (CP) following HIE and to (2) identify regions of the brain critical to normal fidgety general movements (GMs) at 3 to 4 months of postterm. Absence of these normal, physiological movements is highly predictive of CP.
Study Design Term infants treated with hypothermia for HIE from January 2017 to December 2021 were consented for participation and had brain MRI with DTI after rewarming. The Prechtl's General Movements Assessment was performed at 12 to 16 weeks of age. Structural MRIs were reviewed for abnormalities, and DTI data were processed with the FMRIB Software Library. Infants underwent the Bayley Scales of Infant and Toddler Development III test at 24 months.
Results Forty-five infant families were consented; three infants died prior to MRI and were excluded, and a fourth infant was excluded due to diagnosis of a neuromuscular disorder. Twenty-one infants were excluded due to major movement artifact on diffusion images. Ultimately, 17 infants with normal fidgety GMs were compared with 3 infants with absent fidgety GMs with similar maternal and infant characteristics. Infants with absent fidgety GMs had decreased fractional anisotropy of several important white matter tracts, including the posterior limb of the internal capsule, optic radiations, and corpus callosum (p < 0.05). All three infants with absent fidgety GMs and two with normal GMs went on to be diagnosed with CP.
Conclusion This study identifies white matter tracts of the brain critical to development of normal fidgety GMs in infants at 3 to 4 months of postterm using advanced MRI techniques. These findings identify those at highest risk for CP among infants with moderate/severe HIE prior to hospital discharge.
Key Points
Direct α-Trifluoromethylthiolation of Carboxylic Acids
Enabled by Boron Catalysis
Authors: Huang Chung-Yang Dennis , Shimizu Yohei , Sun Kai , Sawamura Masaya 
Published: April 2023

AbstractA boron-catalyzed direct α-trifluoromethylthiolation of carboxylic acids was developed. Catalytically generated boron enediolates reacts with electrophilic SCF3 reagent, N-SCF3-phthalimide, to provide α-SCF3 carboxylic acids without the need of substrate pre-activation. The method is applicable to direct modification of bioactive carboxylic acids. Data science analyses provided suitable models for substrate classification as well as yield prediction.
Efficacy and safety of peroral endoscopic myotomy for esophageal diverticula
Authors: Wessels Elise M. , Schuitenmaker Jeroen M. , Bastiaansen Barbara A.J. , Fockens Paul , Masclee Gwen M.C. , Bredenoord Albert J. 
Published: April 2023

Abstract
Background and study aims Epiphrenic diverticula are rare and mainly occur in patients with underlying esophageal motility disorders. The current standard treatment is surgical diverticulectomy often combined by myotomy and is associated with significant adverse event (AE) rates. The aim of this study was to examine the efficacy and safety of peroral endoscopic myotomy in reducing esophageal symptoms in patients with esophageal diverticula.
Patients and methods We performed a retrospective cohort study including patients with an esophageal diverticulum who underwent POEM between October 2014 and December 2022. After informed consent, data were extracted from medical records and patients completed a survey by telephone. The primary outcome was treatment success, defined as Eckardt score below 4 with a minimal reduction of 2 points.
Results Seventeen patients (mean age 71 years, 41.2 % female) were included. Achalasia was confirmed in 13 patients (13 /17, 76.5 %), Jackhammer esophagus in two patients (2 /17, 11.8 %), diffuse esophageal spasm in one patient (1 /17, 5.9 %) and in one patient no esophageal motility disorder was found (1 /17, 5.9 %). Treatment success was 68.8 % and only one patient (6.3 %) underwent retreatment (pneumatic dilatation). Median Eckardt scores decreased from 7 to 1 after POEM (p < 0.001). Mean size of the diverticula decreased from 3.6 cm to 2.9 cm after POEM (p < 0.001). Clinical admission was one night for all patients. AEs occurred in two patients (11.8 %) which were classified as grade II and IIIa (AGREE classification).
Conclusions POEM is effective and safe to treat patients with esophageal diverticula and an underlying esophageal motility disorder.
Acyclic 2-Ethynylnaphthalene-Modified 8-Aza-3,7-dideaza-2′-deoxyadenosine Allows Thymine Discrimination by Probing the DNA Minor Groove Environment
Authors: Saito Yoshio , Oku Yurino , Kai Misaki , Kobayashi Saika , Katoh Ryuzi 
Published: April 2023

AbstractTwo novel acyclic environment-sensitive fluorescent nucleosides named
ac37zA and
an37zA are synthesized and their photophysical properties are investigated. Both
ac37zA and
an37zA exhibit dual fluorescence emission depending upon molecular coplanarity. Oligodeoxynucleotide probes containing
ac37zA clearly discriminate perfectly matched thymine in target DNA strands by strong charge transfer (CT) emission in the longer wavelength region and by strong quenching of emission from the twisted conformation in the mismatched case.
IVC Filter Retrieval before and after Implementation of IVC Filter Retrieval Alert System (IFRAS): A Single-Center Experience
Authors: Aljaziri Hassan , Salman Refaat , Shaheen Naila A. , Alaftan Mohammad 
Published: April 2023

Abstract
Objective The aim of this study was to evaluate the effectiveness of the IVC filter retrieval alert system (IFRAS) in increasing the inferior vena cava (IVC) filter retrieval rate.
Materials and Methods This study was a case-based retrospective study, for patients who had IVC filter insertion from January 2013 to December 2019 with a sample of 756 patients. The sample was divided into two groups for filter retrieval rate: before the implementation of the tracking system (IFRAS) between 2013 and 2015 with a sample of 321 patients, and after the implementation of the tracking system (IFRAS) between 2016 and 2019 with a sample of 435 patients. This study aimed to compare the IVC filter retrieval rate before and after the implementation of the IFRAS. The tracking system (IFRAS) protocol was applied by a dedicated employee who is actively tracking patients and strictly following them up with a referred physician or interventional radiologist through the interventional radiology clinic.
Results The IVC filter retrieval before the implementation of the tracking system (2013–2015) was 38.3% (123/321), and it became 54.25% (236/435) after the implementation of the tracking system with a p-value less than 0.001. Before implementing the tracking system, patients with no follow-up after IVC filter insertion were 45.17% (145/321), and this decreased to 41.15% (179/435) after implementing the tracking system.
Conclusion The study proved a statistically significant difference in increasing the IVC filter retrieval rate after implementing the IFRAS.
Semantic noise in the Winograd Schema Challenge of pronoun disambiguation
Authors: de Jager S. 
Published: April 2023

AbstractThe Winograd Schema Challenge (WSC) of pronoun disambiguation is a Natural Language Processing (NLP) task designed to test to what extent the reading comprehension capabilities of language models (LMs) can be compared to those of human subjects. It is generally assumed across the NLP literature that human subjects are capable of resolving this task because of their acquired commonsense knowledge, thus setting a commonsense benchmark for LMs, one which has even been proposed as an alternative to the Turing test. In the context of complex natural language communications, Shannon and Weaver observed that the act of semantic interpretation is subject tosemantic noise(Shannon and Weaver, 1964 (1949)). Semantic noise is a constraint that ensues from terms exhibiting variable interpretations across contexts, presenting a challenge to the resolution of tasks such as the WSC. However, the main argument of this paper is that rather than seeing semantic noise as a challenge to otherwise unambiguous communication, it can also be understood as a functional quality of natural language, given that it results in the conceptual negotiation of terms. Failing to theoretically attend to this linguistic matter of fact leads to unintended problems in instances where NLP applications are offered as unbiased or objectively applicable solutions. To address this, this article offers a renewed and original analysis of a series of Winograd Schemas, in order to demonstrate how they are not as straightforwardly solvable by human subjects as is commonly claimed across the NLP literature. The methodology employed is that of historical contextualisation in information theory, and qualitative cultural analysis drawing on examples from a wide variety of recent NLP literature.
Awareness and attitudes towards the revised National Cervical Screening Program amongst women in rural New South Wales: a cross-sectional study
Authors: Gosbell Elizabeth , Panambalana Alisha , Stephenson Annabelle , Vici Carissa , Dutton Tegan , Bailey Jannine 
Published: April 2023

Background Research exploring awareness and attitudes towards the revised National Cervical Screening Program (NCSP) amongst rural Australian women is limited. Given the increased incidence and mortality from cervical cancer in rural Australian women, this gap needs attention. This study examined awareness and attitudes of women in rural New South Wales (NSW) towards the revised NCSP. Methods A cross-sectional survey was conducted with women aged 18–74 years currently residing in the Western NSW Primary Health Network region. The anonymous survey was distributed online via social media and email to eligible women. Results In total, 309 rural women participated. The majority were 30–39 years old (35.9%) and had completed tertiary education (73.1%), figures which are higher than average for this rural region. Of these, 51.8% (160/309) were aware there had been a change to the NCSP. This information most commonly came from their healthcare provider (57.5%; 82/160). Three-quarters reported being happy or neutral with the change (76.1%; 235/309). Those who were aware of the revised NCSP were more likely to have a positive attitude toward it (P = 0.02). Fewer participants reported that they were never/unlikely to participate in screening under the revised NCSP (4.8%, 9/309) as compared to the previous program (15.5%, 48/309) after being provided with information about the revised NCSP. Women who reported an abnormal result under the previous NCSP were more likely to be concerned about the revised NCSP (P = 0.037), in particular the starting age of 25 years (P = 0.007) and the 5-yearly screening interval (P = 0.008). Conclusion Awareness and knowledge levels play an important role in attitudes towards the revised NCSP in rural women. Strategies to increase participation rates should therefore target these areas. Healthcare professionals can take a central role in this information sharing process.
Expansion of the sagittal suture induces proliferation of skeletal stem cells and sustains endogenous calvarial bone regeneration
Authors: Aldawood Zahra A. , Mancinelli Luigi , Geng Xuehui , Yeh Shu-Chi A. , Di Carlo Roberta , C. Leite Taiana , Gustafson Jonas , Wilk Katarzyna , Yozgatian Joseph , Garakani Sasan , Bassir Seyed Hossein , Cunningham Michael L. , Lin Charles P. , Intini Giuseppe 
Published: April 2023

In newborn humans, and up to approximately 2 y of age, calvarial bone defects can naturally regenerate. This remarkable regeneration potential is also found in newborn mice and is absent in adult mice. Since previous studies showed that the mouse calvarial sutures are reservoirs of calvarial skeletal stem cells (cSSCs), which are the cells responsible for calvarial bone regeneration, here we hypothesized that the regenerative potential of the newborn mouse calvaria is due to a significant amount of cSSCs present in the newborn expanding sutures. Thus, we tested whether such regenerative potential can be reverse engineered in adult mice by artificially inducing an increase of the cSSCs resident within the adult calvarial sutures. First, we analyzed the cellular composition of the calvarial sutures in newborn and in older mice, up to 14-mo-old mice, showing that the sutures of the younger mice are enriched in cSSCs. Then, we demonstrated that a controlled mechanical expansion of the functionally closed sagittal sutures of adult mice induces a significant increase of the cSSCs. Finally, we showed that if a calvarial critical size bone defect is created simultaneously to the mechanical expansion of the sagittal suture, it fully regenerates without the need for additional therapeutic aids. Using a genetic blockade system, we further demonstrate that this endogenous regeneration is mediated by the canonical Wnt signaling. This study shows that controlled mechanical forces can harness the cSSCs and induce calvarial bone regeneration. Similar harnessing strategies may be used to develop novel and more effective bone regeneration autotherapies.
Cross-language influences in the perception and production of L2 phonetics and phonology in young bilinguals
Authors: Kehoe Margaret M. 
Published: April 2023

Abstract
This chapter provides an overview of findings on cross-language influence in the phonetic and phonological domain in children exposed to two (or more) languages in early childhood. The chapter first summarizes theoretical models which have been used to account for cross-linguistic interaction. It then examines findings on speech perception and production. It reviews the acquisition of phonetic and prosodic contrasts, differentiation of acoustic features such as Voice Onset Time and rhythm, and development of syllable structure and segments. Finally, it addresses important themes in early bilingualism such as quantitative and qualitative aspects of language input, the influence of the lexicon, and differences between simultaneous and early sequential bilinguals.
Cross-language influences in the processing of L2 prosody
Authors: Calhoun Sasha , Warren Paul , Yan Mengzhu 
Published: April 2023

Abstract
Prosodic cues play a key role in speech processing at multiple levels of linguistic structure. Despite this, research on the role of prosodic cues in second language (L2) speech processing, and on how prosody interacts with other linguistic systems, is comparatively underdeveloped. Meanwhile, our understanding of prosodic systems and their typological variation is substantially matured, making this an ideal time to grow such research. We briefly outline key models aiming to explain acquisition and use of prosody by L2 learners. We then explore cross-language influences in the processing of L2 prosody in four areas which have received the most attention to date: word segmentation, syntactic processing, information structure and pragmatics/global features. We end by highlighting key directions for future research.
Cross-language influences in L2 pre-lexical and lexical processing and acquisition
Authors: Piasecki Anna , Dijkstra Ton 
Published: April 2023

Abstract
We review how second language (L2) printed and spoken word recognition is affected by first language (L1) characteristics. First, sublexical word properties in bilingual word recognition are considered, in particular diacritical marks and Capital Letters in a script, script-specific letters, language-sensitive bigrams, and grapheme to phoneme correspondences (GPCs). Next, we focus on cross-language effects for words varying in orthographic neighbourhoods and morphological family size, cognates, and interlingual homographs. For both sublexical and lexical aspects, we examine if language membership information might be used to facilitate processing. Finally, we describe how cross-language similarities and differences play out during second language acquisition. A summary of sublexical and lexical cross-linguistic effects in L2 processing and acquisition concludes the chapter.
Cross-language influences in L2 semantic and conceptual representation and processing
Authors: De Deyne Simon , Brysbaert Marc , Elgort Irina 
Published: April 2023

Abstract
Languages come with a unique set of words to label concepts so that sometimes a word in one language does not have a semantic equivalent in another language. This lack of equivalence is multi-faceted: words in two languages can be defined at different levels of abstraction, have different senses, or have conflicting affective connotations. What factors determine semantic equivalence across languages, and how are they incorporated in current theories of bilingual semantic representation? How do bilinguals navigate conflicting meanings or leverage semantic equivalence between two languages? To address these questions, this chapter will draw on recent proposals that combine multimodal experiential and linguistic representations to capture meaning. The multimodal view provides a framework to review distinct types of semantic equivalence at the feature, word, and language level. Finally, the implications of differentiating different types of semantic equivalence for bilingual studies are discussed.
Cross-language influences on morphological processing in bilinguals
Authors: Kahraman Hasibe , Beyersmann Elisabeth 
Published: April 2023

Abstract
Several decades of reading research in bilinguals have revealed evidence for cross-language influences on the visual recognition of simple words (e.g., farm). However, comparatively little is known about cross-language transfer mechanisms involved when reading morphologically complex words (e.g., farmer or farmhouse). In this chapter, we provide a review of studies examining the processing of affixed and compound words in bilinguals, with a particular focus on studies directly targeting cross-language transfer. The key findings support the idea that bilinguals rapidly and simultaneously activate the morphological features in both of their languages during the early, automatic stages of visual word recognition. Implications for theoretical models of morphological processing in bilinguals and future directions are discussed.
Cross-linguistic influences in bilingual morphosyntactic acquisition
Authors: Chondrogianni Vasiliki (Vicky) 
Published: April 2023

Abstract
The interaction between the bilingual child’s two languages, coined as Cross-linguistic influence (CLI), is a well-reported phenomenon in bilingual language development. Although CLI has long dominated bilingualism research, issues about its nature (a representational change or by-product of language co-activation), timing and duration remain less well understood. Is CLI only observed during early bilingual development, and does it fade away as children grow older? Does it lead to qualitative and quantitative differences in language development between bilinguals and monolinguals? The present chapter addresses these questions by reviewing state-of-the-art studies reporting CLI in simultaneous and sequential bilingual children’s acquisition of morphology and syntax. We also discuss how extra-linguistic factors such as age of acquisition, dominance, input quality and quantity modulate CLI.
La phraséologie dans les interactions orales et écrites
Authors: Dostie Gaétane , Tutin Agnès 
Published: April 2023

RésuméCe texte introductif présente le contexte dans lequel s’inscrit la recherche sur la phraséologie des interactions orales. Les dix articles qui composent le volume sont également synthétisés. Ces derniers regroupent des réflexions méthodologiques et des études de cas.