bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gamma-Aminobutyric Acid Transaminase (GABA-T) Deficiency in a Consanguineous Saudi Family: A Case Report and Literature Review
Authors: Kentab Amal Y. 
Published: October 2022

AbstractGamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder caused by mutations in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. It is characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, hyperreflexia, movement disorder, hypersomnolence, and early childhood mortality. It is associated with elevated free GABA in cerebrospinal fluid (CSF), GABA-T deficiency in cultured lymphoblasts, hypomyelination on brain magnetic resonance imaging (MRI), and elevated GABA level in the basal ganglia on proton magnetic resonance spectroscopy (MRS). Only 14 cases have been published in the literature. A rare case of infantile epileptic encephalopathy caused by GABA-T deficiency resulting from a previously unreported homozygous missense mutation in the ABAT gene is described. Our findings add to the phenotypic, neuroradiological, and genetic spectrum of ABAT mutations.
Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus
Authors: Coronado-Lopez Juan Pablo , Coronado Juan Felipe , Gomez-Urrego Jose Fernando , Londono-Chavez Richard 
Published: October 2022

Abstract
Introduction Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose.
Clinical Case A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution.
Discussion The pathophysiology, diagnostics, and proper management of this disease are discussed.
Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.
Physicians’ and advanced practice providers’ perceptions of the impact of embedded clinical pharmacists on the work environment in ambulatory care clinics
Authors: Elliott Amber N , Buzzard Lyndsey N , Villa Kristin R , Gadbois Natalie R 
Published: October 2022

AbstractPurposeClinical pharmacists are recognized as valuable team members in primary care clinics due to the variety of patient care services they provide. This study examined nonpharmacist healthcare providers’ perceptions of how embedded clinical pharmacists impact the work environment in ambulatory care clinics.SummaryThis was an exploratory mixed methods study consisting of semistructured interviews and a subsequent survey. Participants included attending and resident physicians, and advanced practice providers (APPs) practicing in clinics with an embedded clinical pharmacist. Coded interview transcripts were analyzed to identify themes that were used to develop a survey. Interview participants were not asked to complete the survey. Survey responses were analyzed utilizing descriptive statistics. Subgroup analysis assessed for differences in responses based on provider type, gender, clinical practice area, years of practice, and pharmacy services utilization. Fourteen physicians and APPs participated in the semistructured interviews, and 43 other providers completed the survey. In the interviews, participants stated the clinical pharmacist contributed positively in terms of work environment, workload, work-related stress, and burnout. The major themes identified were sharing patient care responsibilities, saving provider time, and being a knowledgeable resource. Survey responses were consistent with interview statements; however, the positive impact differed between nonusers and moderate to high utilizers of clinical pharmacy services. The main barrier to collaborating with clinical pharmacists was their limited availability.ConclusionEmbedded clinical pharmacists positively impact the work environment in ambulatory care clinics by reducing provider workload, work-related stress, and burnout. Participants also noted clinical pharmacists are a trusted resource for patient care and drug information questions.
Self-access Strategy Instruction for Academic Writing Vocabulary: What Learners Actually Do
Authors: Wang Isobel Kai-Hui , Cohen Andrew D 
Published: October 2022

Abstract
This paper describes a close-up investigation of four advanced language learners’ engagement with strategy instruction (SI) materials specially designed to enhance efforts to fine-tune comprehension and production of academic vocabulary. The learners first completed a measure of learning style, and then provided introspective and retrospective verbal report data and log entries during and after each interactive session with the SI materials over an eight-week period. The results showed that the learners’ engagement in these sessions heightened their awareness of strategies for fine-tuning their comprehension and production of vocabulary. Issues also arose during their efforts at vocabulary fine-tuning—such as their doubting the results, their experiencing fatigue, and their perceived failure to strategize effectively. The study provided a look at the complex interplay of variables when the learners were attempting to extract insights from the SI materials. In particular, the data illustrated how style preferences related to the selection of strategies in academic writing. The implications for individualized approaches to the implementation of SI and for teachers’ support of L2 learners’ strategic performance are discussed.
Core promoter in TNBC is highly mutated with rich ethnic signature
Authors: Huang Teng , Li Jiaheng , Zhao Heng , Ngamphiw Chumpol , Tongsima Sissades , Kantaputra Piranit , Kittitharaphan Wiranpat , Wang San Ming 
Published: October 2022

Abstract
The core promoter plays an essential role in regulating transcription initiation by controlling the interaction between transcriptional factors and sequence motifs in the core promoter. Although mutation in core promoter sequences is expected to cause abnormal gene expression leading to pathogenic consequences, limited supporting evidence showed the involvement of core promoter mutation in diseases. Our previous study showed that the core promoter is highly polymorphic in worldwide human ethnic populations in reflecting human history and adaptation. Our recent characterization of the core promoter in triple-negative breast cancer (TNBC), a subtype of breast cancer, in a Chinese TNBC cohort revealed the wide presence of core promoter mutation in TNBC. In the current study, we analyzed the core promoter in a Thai TNBC cohort. We also observed rich core promoter mutation in the Thai TNBC patients. We compared the core promoter mutations between Chinese and Thai TNBC cohorts. We observed substantial differences of core promoter mutation in TNBC between the two cohorts, as reflected by the mutation spectrum, mutation-effected gene and functional category, and altered gene expression. Our study confirmed that the core promoter in TNBC is highly mutable, and is highly ethnic-specific.
ADViSELipidomics: a workflow for analyzing lipidomics data
Authors: Del Prete Eugenio , Campos Ana Margarida , Della Rocca Fabio , Gallo Carmela , Fontana Angelo , Nuzzo Genoveffa , Angelini Claudia 
Published: October 2022

Abstract

Summary
ADViSELipidomics is a novel Shiny app for preprocessing, analyzing and visualizing lipidomics data. It handles the outputs from LipidSearch and LIQUID for lipid identification and quantification and the data from the Metabolomics Workbench. ADViSELipidomics extracts information by parsing lipid species (using LIPID MAPS classification) and, together with information available on the samples, performs several exploratory and statistical analyses. When the experiment includes internal lipid standards, ADViSELipidomics can normalize the data matrix, providing normalized concentration values per lipids and samples. Moreover, it identifies differentially abundant lipids in simple and complex experimental designs, dealing with batch effect correction. Finally, ADViSELipidomics has a user-friendly graphical user interface and supports an extensive series of interactive graphics.

Availability and implementation
ADViSELipidomics is freely available at https://github.com/ShinyFabio/ADViSELipidomics

Supplementary information
Supplementary data are available at Bioinformatics online.
A method for multiple sampling mouse sperm in vivo
Authors: Moreno-del Val Gonzalo , Muñoz-Robledano Patricia , Caler Antonio J , Morante Javier 
Published: October 2022

AbstractMice are the most widely used animal model to study human diseases. However, the difficulty of in vivo recovery of mouse sperm has posed a limitation with its use in reproductive biology research. Several published techniques for obtaining sperm samples in vivo have been described, but most of them have several caveats. Critical limitations include poor reliability and significant mortality (Electroejaculation and drug-induced ejaculation), or the need for a large number of animals, careful programming, and laborious work (directed mating). Here, we describe a new approach for in vivo collection of sperm in the mouse via direct puncture of the epididymis to address these limitations. In addition, the technique is easy, safe, and reliable, allowing the animal to recover and maintain its fertility. In this way, punctual experiments could be carried out, or even more so, serial sampling of the same animal over time. Therefore, our approach allows for long-term and time-course experiments to study sperm characteristics under different treatments or conditions while maintaining the spermatogenic niche in vivo. In summary, we present our original approach as a powerful research tool to facilitate the study of spermatozoa relevant to various areas of biomedical research.
Visualization of preimplantation uterine fluid absorption in mice using Alexa Fluor™ 488 Hydrazide
Authors: Li Yuehuan , Martin Taylor Elijah , Hancock Jonathan Matthew , Li Rong , Viswanathan Suvitha , Lydon John P , Zheng Yi , Ye Xiaoqin 
Published: October 2022

AbstractUterine fluid plays important roles in supporting early pregnancy events and its timely absorption is critical for embryo implantation. In mice, its volume is maximum on day 0.5 post-coitum (D0.5) and approaches minimum upon embryo attachment ~D4.0. Its secretion and absorption in ovariectomized rodents were shown to be promoted by estrogen and progesterone (P4), respectively. The temporal mechanisms in preimplantation uterine fluid absorption remain to be elucidated. We have established an approach using intraluminally injected Alexa Fluor™ 488 Hydrazide (AH) in preimplantation control (RhoAf/f) and P4-deficient RhoAf/fPgrCre/+ mice. In control mice, bulk entry (seen as smeared cellular staining) via uterine luminal epithelium (LE) decreases from D0.5 to D3.5. In P4-deficient RhoAf/fPgrCre/+ mice, bulk entry on D0.5 and D3.5 is impaired. Exogenous P4 treatment on D1.5 and D2.5 increases bulk entry in D3.5 P4-deficient RhoAf/fPgrCre/+ LE, while progesterone receptor (PR) antagonist RU486 treatment on D1.5 and D2.5 diminishes bulk entry in D3.5 control LE. The abundance of autofluorescent apical fine dots, presumptively endocytic vesicles to reflect endocytosis, in the LE cells is generally increased from D0.5 to D3.5 but its regulation by exogenous P4 or RU486 is not obvious under our experimental setting. In the glandular epithelium (GE), bulk entry is rarely observed and green cellular dots do not show any consistent differences among all the investigated conditions. This study demonstrates the dominant role of LE but not GE, the temporal mechanisms of bulk entry and endocytosis in the LE, and the inhibitory effects of P4-deficiency and RU486 on bulk entry in the LE in preimplantation uterine fluid absorption.
Utility of Circulating Free DNA Fragmentomics in the Prediction of Pathological Response after Neoadjuvant Chemoradiotherapy in Locally Advanced Rectal Cancer
Authors: Wang Yaqi , Fan Xiaojun , Bao Hua , Xia Fan , Wan Juefeng , Shen Lijun , Wang Yan , Zhang Hui , Wei Yulin , Wu Xue , Shao Yang , Li Xinxiang , Xu Ye , Cai Sanjun , Zhang Zhen 
Published: October 2022

Abstract

Background
A "Watch and Wait” (W&W) approach has become an alternative to surgery for locally advanced rectal cancer (LARC) after neoadjuvant chemoradiotherapy (nCRT). Precise prediction of pathological complete response (pCR) will improve patient selection for W&W. We investigated the utility of cell-free DNA (cfDNA) fragmentomics in predicting pCR.

Methods
We recruited 119 LARC patients and evaluated nCRT response by pCR status and pathological or MRI tumor regression grade (mrTRG). Plasma samples before, during, and after nCRT were applied to deep targeted-panel sequencing, with 103 patients having complete samples. cfDNA fragment and 5′-end motif profiles were used to construct elastic-net logistic regression models to predict non-pCR. Predictive performance was measured by area under the receiver operator characteristic curve (AUC), sensitivity, and specificity.

Results
In the training cohort, the model based on 5′-end motif profile plus mrTRG achieved the highest cross-validation AUC (0.92, 95% CI, 0.91–0.93). The AUC in a testing cohort was 0.96 (95% CI, 0.90–1.00). The models based on 5′-end motif profile alone or in combination with mrTRG both maintained good predictive ability for patients without detectable circulating tumor DNA (AUC 0.94, 95% CI, 0.93–0.95; AUC 0.95, 95% CI, 0.94–0.96). In an external validation cohort, the model trained with a local 5′-end motif profile obtained an AUC of 0.878 (95% CI, 0.801–0.956) in discriminating colorectal cancer from healthy subjects.

Conclusions
The combination of a 5′-end motif profile with mrTRG has the potential to predict the response to nCRT, and therefore may improve the patient selection for a W&W approach.
The Need for Being Explicit: Failed Attempts to Construct Implicit Certificates from Lattices
Authors: Bindel Nina , McCarthy Sarah 
Published: October 2022

Abstract
Global efforts such as the National Institute of Standards and Technology (NIST)’s post-quantum standardization center on cryptographic primitives like public-key encryption and signature schemes that are secure even in the presence of quantum adversaries. In addition, one must also consider efficient certificate management as new technologies like the Internet of Things and 5G wireless networks rely on them. For example, the IEEE Standard for vehicle-to-vehicle communication depends on implicit certificates. However, the only efficient construction available is over elliptic curves, and hence not quantum-secure. This paper investigates approaches to construct implicit certificate schemes from lattices, employing the NIST Round 3 signature schemes Dilithium and Falcon. We consider emulation of the existing implicit certificate scheme and proceed to more innovative techniques like combining the two schemes or pairing them with encryption. Unfortunately, we encounter problems with each design, due to recurring causes like conflicting secret key and signature sizes, unique sampler requirements and the rigidity of the parameter sets. By explaining each of these issues, this paper will hopefully spark ideas for more successful constructions.
Rainbow Tables: How Far Can CPU Go?
Authors: Avoine Gildas , Carpent Xavier , Leblanc-Albarel Diane 
Published: October 2022

Abstract
Rainbow tables are techniques commonly used in computer security to invert one-way functions, for instance to crack passwords, when the domain of definition is reasonably sized. This article explores the limit on the problem size that can be treated by rainbow tables when the precomputation and the attack phases are both CPU-driven. We conclude that the bottleneck is no longer the memory as it may have been and the precomputation phase seems to have been underestimated so far. We offer a comparison of what can be done on different environments depending on the needs and available computing power of the users.
Impacts of anterior-posterior jaw disproportions on speech of dentofacial disharmony patients
Authors: Oliver Steven , Keyser Mary Morgan Bitler , Jhingree Samantha , Bocklage Clare , Lathrop Hillary , Giduz Natalie , Moss Kevin , Blakey George , White Raymond , Turvey Timothy , Mielke Jeff , Zajac David , Jacox Laura Anne 
Published: October 2022

Summary

Background/Objectives
Articulation problems impact communication, development, and quality of life, and are diagnosed in 73–87% of patients with Class II Dentofacial Disharmony (DFD). We evaluated whether differences exist in stop (/t/ or/k/), fricative (/s/ or/ʃ/), and affricate (/tʃ/) consonant sounds of Class II DFD subjects, and whether extent of malocclusion correlates with severity of speech distortion. We hypothesized that Class II patients display milder distortions than Class III and anterior open bite (AOB), as Class II patients can posture into a Class I occlusion.

Materials/Methods
Audio and orthodontic records were collected from DFD patients (N = 53-Class II, 102-Class III, 72-Controls) who were pursuing orthodontics and orthognathic surgery. A speech pathologist perceptually scored speech. Acoustic differences in recordings were measured using Spectral Moment Analysis.

Results
When Class II subjects were compared to controls, significant differences were found for the centroid frequency (M1) of the /s/ sound and the spectral spread (M2) of /t/, /tʃ/, and /s/ sounds, with pairwise significance for controls relative to Class II AOB and all Class II subjects. Class II AOB subjects had higher M1 and M2 values than patients with Class II closed bites and Class I controls for most sounds. When comparing across anterior-posterior (AP) groups, differences exist between controls, Class II and III DFD subjects for M1 of /t/, /tʃ/, and/ʃ/ and M2 for /t/, /tʃ/, /s/, and /ʃ/ sounds. Using linear regression, correlations between Class II and III severity and spectral measures were found for /t/ and /tʃ/ sounds.

Conclusions/Implications
Class II and III patients have a higher prevalence of qualitative distortions and spectral changes in consonants compared to controls, but Class II spectral shifts are smaller and affect fewer sounds than in Class III and AOB cohorts. Linear correlations between AP discrepancy and spectral change suggest causation and that treatment may improve articulation problems.
Decolonizing business English: exploring classroom ideologies
Authors: Banister Chris 
Published: October 2022

Abstract
The inherent coloniality of ELT, as both driver and product of Anglophone political power, poses particular challenges for ELT teachers and learners looking to engage with decolonizing agendas. With only scant evidence of these agendas translating into ELT practice, I explored decolonial options, counter-hegemonic actions, with my undergraduate business English learners, adopting a form of practitioner research known as exploratory practice, and centring enquiry on our use of business news articles for a key course component. My learners revealed the potential of decolonial options, and the reflective, exploratory process exposed our language ideologies, with a vocal minority of students resisting any end to the established English-only policy. Suggestions are offered for fellow ELT teachers working in similar settings and who are interested in exploring their own use of authentic materials through a decolonizing lens.
Challenges and Opportunities for Advancing Research and Improving Care for Sexual and Gender Minorities With Inflammatory Bowel Disease
Authors: Boyd Taylor , Friedman Sonia 
Published: October 2022

Lay SummaryWithin the field of gastroenterology and inflammatory bowel disease specifically, there has been little research exploring the healthcare experiences of LGBTQIA+ individuals. This article describes unique clinical challenges and research opportunities that exist particularly at the intersection of inflammatory bowel disease and sexual health.
Expanding the history of humanities computing: Hugh Kenner’s conversational criticism
Authors: Roach Rebecca 
Published: October 2022

AbstractThis article posits that a novel and humanistic model of computing—‘conversational computing’—would emerge in the 1960s which, despite being largely forgotten today, proved extremely influential in computing and wider culture. I examine the metaphor and model of conversation embedded in this earlier idea and trace the ways it was taken up in the humanities via examining, through his archives, the career of renowned literary critic and programmer, Hugh Kenner (1923–2003).
Illusions of objectivity: The two functions of country of origin information in asylum assessment
Authors: Bodström Erna 
Published: October 2022

AbstractThe article argues that the intertextuality of country of origin information (COI) plays a significant part in constructing asylum decisions and therefore the lives and futures of those affected by forced migration. COI in asylum decisions is based on COI reports, which in turn are based on other COI reports, interviews, or media materials. This makes them intertextual, that is, referring to and transforming other texts. That is, COI reports typically include dozens or even hundreds of pages of information, which are abbreviated in order to be used in a few paragraphs of asylum decisions. This is done through recontextualisation, that is, by selecting certain parts of the text and reformulating them to the new context. The article analyses COI in 67 negative first-instance asylum decisions and in 38 COI reports and similar sources through the concept of intertextuality. It argues that COI has two functions in the asylum decisions, personal and general. Personal COI is used to assess the truthfulness of the asylum applicant’s persecution narrative, whereas general COI is used to evaluate the overall security and human rights situation in the country of origin. The article shows that even though the decisions tend to present COI as objective information, it can easily be biased, irrelevant, and illogical, therefore creating an illusion of objectivity.