bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences
Authors: Sherman Carissa A. , Claw Katrina G. , Lee Seung-been 
Published: October 2024

AbstractWhile significant strides have been made in understanding pharmacogenetics (PGx) and gene-drug interactions, there remains limited characterization of population-level PGx variation. This study aims to comprehensively profile global star alleles (haplotype patterns) and phenotype frequencies in 58 pharmacogenes associated with drug absorption, distribution, metabolism, and excretion. PyPGx, a star-allele calling tool, was employed to identify star alleles within high-coverage whole genome sequencing (WGS) data from the 1000 Genomes Project (N = 2504; 26 global populations). This process involved detecting structural variants (SVs), such as gene deletions, duplications, hybrids, as well as single nucleotide variants and insertion-deletion variants. The majority of our PyPGx calls for star alleles and phenotype frequencies aligned with the Pharmacogenomics Knowledge Base, although notable population-specific frequencies differed at least twofold. Validation efforts confirmed known SVs while uncovering several novel SVs currently undefined as star alleles. Additionally, we identified 210 small nucleotide variants associated with severe functional consequences that are not defined as star alleles. The study serves as a valuable resource, providing updated population-level star allele and phenotype frequencies while incorporating SVs. It also highlights the burgeoning potential of cost-effective WGS for PGx genotyping, offering invaluable insights to improve tailored drug therapies across diverse populations.
Phenotypic evidence of deltamethrin resistance and identification of selective sweeps in Anopheles mosquitoes on the Bijagós Archipelago, Guinea-Bissau
Authors: Moss Sophie , Jones Robert T. , Pretorius Elizabeth , da Silva Eunice Teixeira , Higgins Matthew , Kristan Mojca , Acford-Palmer Holly , Collins Emma L. , Rodrigues Amabelia , Krishna Sanjeev , Clark Taane G. , Last Anna , Campino Susana 
Published: October 2024

AbstractVector control in the Bijagós Archipelago of Guinea-Bissau currently relies on pyrethroid insecticide-treated nets. However, data on insecticide resistance in Guinea-Bissau is limited. This study identified deltamethrin resistance in the Anopheles gambiae sensu lato complex on Bubaque island using WHO tube tests in November 2022. Whole genome sequencing of An. gambiae sensu stricto mosquitoes identified six single nucleotide polymorphisms (SNPs) previously associated with, or putatively associated with, insecticide resistance: T791M, L995F, N1570Y, A1746S and P1874L in the vgsc gene, and L119V in the gste2 gene. Twenty additional non-synonymous SNPs were identified in insecticide-resistance associated genes. Four of these SNPs were present at frequencies over 5% in the population: T154S, I126F and G26S in the vgsc gene and A65S in ace1. Genome wide selection scans using Garud’s H12 statistic identified two selective sweeps: one in chromosome X and one in chromosome 2R. Both selective sweeps overlap with metabolic genes previously associated with insecticide resistance, including cyp9k1 and the cyp6aa/cyp6p gene cluster. This study presents the first phenotypic testing for deltamethrin resistance and the first whole genome sequence data for Anophelesgambiae mosquitoes from the Bijagós, contributing data of significance for vector control policy in this region.
Listening to two-talker conversations in quiet settings: the role of listeners’ cognitive processing capabilities for memory and listening effort
Authors: Mohanathasan Chinthusa , Fels Janina , Schlittmeier Sabine J. 
Published: October 2024

AbstractListening to conversing talkers in quiet environments and remembering the content is a common activity. However, research on the cognitive demands involved is limited. This study investigates the relevance of individuals’ cognitive functions for listeners’ memory of two-talker conversations and their listening effort in quiet listening settings. A dual-task paradigm was employed to explore memory of conversational content and listening effort while analyzing the role of participants’ (n = 29) working memory capacity (measured through the operation span task), attention (Frankfurt attention inventory 2), and information-processing speed (trail making test). In the primary task, participants listened to a conversation between a male and female talker and answered content-related questions. The two talkers’ audio signals were presented through headphones, either spatially separated (+ /– 60°) or co-located (0°). Participants concurrently performed a vibrotactile pattern recognition task as a secondary task to measure listening effort. Results indicated that attention and processing speed were related to memory of conversational content and that all three cognitive functions were related to listening effort. Memory performance and listening effort were similar for spatially separated and co-located talkers when considering the psychometric measures. This research offers valuable insights into cognitive processes during two-talker conversations in quiet settings.
Mechanisms of antimicrobial resistance in biofilms
Authors: Liu Ho Yu , Prentice Emma L. , Webber Mark A. 
Published: October 2024

AbstractMost bacteria in nature exist in aggregated communities known as biofilms, and cells within a biofilm demonstrate major physiological changes compared to their planktonic counterparts. Biofilms are associated with many different types of infections which can have severe impacts on patients. Infections involving a biofilm component are often chronic and highly recalcitrant to antibiotic therapy as a result of intrinsic physical factors including extracellular matrix production, low growth rates, altered antibiotic target production and efficient exchange of resistance genes. This review describes the biofilm lifecycle, phenotypic characteristics of a biofilm, and contribution of matrix and persister cells to biofilms intrinsic tolerance to antimicrobials. We also describe how biofilms can evolve antibiotic resistance and transfer resistance genes within biofilms. Multispecies biofilms and the impacts of various interactions, including cooperation and competition, between species on tolerance to antimicrobials in polymicrobial biofilm communities are also discussed.
Impact of an Auditory Processing Training Program on Individuals With Autism Spectrum Disorder
Authors: Schafer Erin C. , Gopal Kamakshi V. , Mathews Lauren , Miller Sharon , Lam Boji P. W. 
Published: October 2024

Purpose:
Children and young adults diagnosed with autism spectrum disorder (ASD) often report and exhibit significant auditory processing difficulties, particularly in background noise. This study extends our previous work by examining the potential benefits of a 12-week auditory processing training (APT) program designed to address the auditory processing difficulties in individuals with ASD via auditory training and the use of remote-microphone technology. Effect sizes of training benefits also were calculated, and principal component analysis (PCA) was used to consolidate performance across various tests into fewer meaningful constructs related to auditory processing in this population.

Method:
Twenty-eight children and young adults with ASD participated in a 12-week APT program that included one-on-one speech-in-noise training, computerized dichotic training, and use of remote-microphone technology at home and at school. Before and after training, each participant completed tests of speech recognition in noise, spatial processing, binaural integration, and general auditory processing skills.

Results:
Significant performance improvements and medium-to-large effect sizes were found across most test measures after the participants completed the APT program and when using the remote-microphone system. PCA identified strong relationships among all test measures as well as documented the relationships between behavioral performance, training duration, and training improvements.

Conclusions:
The APT program significantly improved spatial processing, binaural integration, phonological processing, auditory memory, auditory cohesion, and speech recognition in noise in individuals with ASD when the remote-microphone system was used. PCA analysis of pre- and posttraining data showed a strong relationship among all test measures, suggesting an abbreviated auditory processing test battery may be feasible for individuals with ASD. Training duration (minutes) and training improvements were associated with performance outcomes measured by the test battery.
Firsttrimester Diagnosis and Therapy @ 11 – 13+6 Weeks of Gestation – Part 1
Authors: von Kaisenberg Constantin , Kozlowski Peter , Kagan Karl-Oliver , Hoopmann Markus , Heling Kai-Sven , Chaoui Rabih , Klaritsch Philipp , Pertl Barbara , Burkhardt Tilo , Tercanli Sevgi , Frenzel Jochen , Mundlos Christine 
Published: October 2024

AbstractThis extensive AWMF 085-002 S2e-guideline “First Trimester Diagnosis and Therapy @ 11 – 13+6 of Gestation” has systematically analyzed high-quality studies and publications and the existing evidence (evidence tables) and produced recommendations (level of recommendation, level of evidence, strength of consensus).This guideline deals with the following topics in the context of the 11 – 13+6 weeks scan: the legal basis, screening for anatomical malformations, screening for chromosomal defects, quality assessment and audit, screening for preeclampsia and FGR, screening for preterm birth, screening for abnormally invasive placenta (AIP) and placenta accreta spectrum (PAS), screening for velamentous cord insertion and vasa praevia, screening for diabetes mellitus and LGA.Screening for complications of pregnancy can best be carried out @ 11 – 13+6 weeks of gestation. The issues of how to identify malformations, chromosomal abnormalities and certain disorders of placentation (high blood pressure and proteinuria, intrauterine growth retardation) have been solved. The problem of how to identify placenta percreta and vasa previa has been partially solved. What is still unsolved is how to identify disorders of glucose metabolism and preterm birth.In the first trimester, solutions to some of these problems are available: parents can be given extensive counselling and the risk that a pregnancy complication will manifest at a later stage can be delayed and reduced. This means that screening is critically important as it helps in decision-making about the best way to manage pregnancy complications (prevention and intervals between follow-up examinations).If no treatment is available and if a termination of pregnancy is considered, the intervention can be carried out with far lower complications compared to the second trimester of pregnancy. In most cases, further examinations are not required and the parents can be reassured. A repeat examination at around week 20 of gestation to complete the screening for malformations is recommended.
Note: The guideline will be published simultaneously in the official journals of both professional societies (i.e. Ultraschall in der Medizin/European Journal of Ultrasound for the DEGUM and Geburtshilfe und Frauenheilkunde for the DGGG).
Antibiotische Therapie der Endokarditis
Authors: Schmidt-Hellerau Kirsten , Jung Norma 
Published: October 2024

ZusammenfassungAngesichts der Schwere der Erkrankung und der möglichen Komplikationen ist eine frühzeitige und optimale antibiotische Therapie der infektiösen Endokarditis erforderlich. Sie richtet sich zum einen nach dem Erreger, gegen den die am besten wirksame Substanz in ausreichender Dosierung verabreicht werden soll, und zum anderen nach patientenbezogenen Faktoren, wie Kunstklappen und Allergien. Im Falle einer empirischen Therapie orientiert sich diese am jeweiligen erwarteten Erregerspektrum, um dann schnellstmöglich auf eine zielgerichtete Therapie umgestellt zu werden. Wichtig für das therapeutische Gesamtkonzept, das indizierte Interventionen und Operationen mit einschließt, ist die interdisziplinäre Zusammenarbeit, optimalerweise in Form eines Endokarditisteams. Im Folgenden werden Empfehlungen der neuen Leitlinien der Europäischen Gesellschaft für Kardiologie auszugsweise dargestellt, vereinfacht und kommentiert, um praktische Hilfestellungen für den klinischen Alltag zu
bieten.
Chirurgische Therapie der infektiösen Endokarditis
Authors: de Waha Suzanne , Marín-Cuartas Mateo , Magomedov Khadzhimurad , Ortiz De La Cuesta Manuela , Misfeld Martin , Borger Michael A. 
Published: October 2024

ZusammenfassungDie intrahospitale Letalität von Patienten mit infektiöser Endokarditis liegt bei 20–30%. Bei ungefähr der Hälfte aller Patienten ist neben einer antibiotischen Therapie auch ein herzchirurgischer Eingriff indiziert. Die wesentlichen Indikationen zur Operation sind Herzinsuffizienz, lokal oder systemisch unkontrollierte Infektion und Prävention eines embolischen Ereignisses. Auch der Zeitpunkt des chirurgischen Eingriffs ist von großer Bedeutung. Trotz der Risiken eines chirurgischen Eingriffs ist dies häufig der einzig kurative Ansatz und bietet bei selektionierten Patienten einen wesentlichen Überlebensvorteil im Vergleich zur antibiotischen Therapie allein. Im folgenden Artikel werden die Grundsätze der chirurgischen Therapie bei infektiöser Endokarditis hinsichtlich Indikation, Risiken und Zeitpunkt vorgestellt.
Diagnostik der infektiösen Endokarditis und die Rolle des Endokarditis-Teams
Authors: Mangner Norman , Linke Axel 
Published: October 2024

ZusammenfassungDie Inzidenz der infektiösen Endokarditis ist in den letzten beiden Jahrzehnten deutlich gestiegen, was zum einen auf eine immer größer werdende Risikopopulation als auch auf verbesserter und häufiger angewandter Diagnostik beruht. Unverändert fortbestehend ist jedoch die hohe intrahospitale Letalität von 15–30%, die erheblich vom Zeitpunkt der Diagnose und dem Auftreten von Komplikationen bestimmt wird. Vor diesem Hintergrund wurde im Jahr 2023 eine überarbeitete Version der Endokarditis-Leitlinie durch die Europäische Gesellschaft für Kardiologie (ESC) veröffentlicht. Sowohl die frühe und korrekte Diagnose als auch die Einbindung eines multidisziplinären Endokarditis-Teams sind mit einer verbesserten Prognose von Patienten mit infektiöser Endokarditis assoziiert.
Akuter Querschnitt unter Systemtherapie – Radiotherapie oder OP?
Authors: Ujkic Lidija , Sutanto Ricardo , Knöll Peter , Zarghooni Kourosh , Rosenbrock Johannes , Walter Sebastian 
Published: October 2024

ZUSAMMENFASSUNGWirbelkörper sind eine der häufigsten Metastasenlokalisationen beim fortgeschrittenen Prostatakarzinom. Einerseits schränken Wirbelsäulenmetastasen durch begleitende Rückenschmerzen die Lebensqualität der Patienten stark ein, andererseits können Sekundärkomplikationen auftreten, die mit schwerwiegenden neurologischen Ausfallerscheinungen und Funktionsverlusten einhergehen. Neben der Schmerzreduktion stellen zum einen die lokale Tumorkontrolle, zum anderen die Wiederherstellung der spinalen Stabilität zentrale Therapieziele dar. Der Stellenwert der Chirurgie, der konventionellen Strahlentherapie und stereotaktischen Strahlentherapie, sowohl alleinstehend als auch kombiniert, wird vor diesem Hintergrund in der Literatur kontrovers diskutiert. Insbesondere der NOMS-Score erweist sich als hilfreiches Tool zur therapeutischen Entscheidungsfindung. Daten zeigen bessere postoperative Patientenoutcomes nach chirurgischer Therapie, sowohl wenn isoliert durchgeführt als auch kombiniert mit der Strahlentherapie, wobei ein Teil der untersuchten Patientenkollektive andere Primaria neben dem Prostatakarzinom miteinschließen. Vergleichsstudien, die speziell im Setting des metastasierten Prostatakarzinoms die Überlegenheit bestimmter Therapien vergleichen, sind rar. Dasselbe gilt in Bezug auf mikrochirurgische Eingriffe an spinalen Metastasen. Die isolierte Strahlentherapie nimmt insbesondere im Setting der Palliation zur Schmerzlinderung ihren Stellenwert ein, wobei ihre Effektivität zahlreich belegt ist. Therapeutisch entscheidungsführend ist die erwartete Lebensprognose der Patienten. Ein multimodaler Therapieansatz ist vor dem Hintergrund des komplexen Patientenkollektivs vonnöten, wobei aktuelle Therapietrends vor dem Hintergrund der Früherkennung spinaler Metastasen großzügiger eine operative Intervention integrieren.
Bilateral Lower Limb Injuries and the Need for Two Free Flaps: Simultaneous or Sequential
Authors: Srikanth R. , Mukunda Reddy D. , Parvathi R. , Khasanvis Vishal , Chandrashekhar P. 
Published: October 2024

Abstract
Objective  To determine the choice of flap cover for patients presenting with bilateral lower limb trauma requiring free flap cover and to derive a step-wise guide to the planning of bilateral lower limb free flaps.
Materials and Methods This was a retrospective study of patients over a 20 year period from 2000 to 2020 who presented with bilateral lower limb defects following trauma and were managed with two free flaps for wound cover, done either simultaneously or sequentially in the same admission.
Results Of the 11 cases with 22 defects, there were 3 re-explorations with 1 flap loss managed with delayed fasciocutaneous flap cover. Donor morbidity was minimal requiring aspiration of seroma for 1 patient and secondary SSG for recipient area graft loss over muscle flap in 2 patients.
Conclusion Use of single donor site ensures economy of time and tissue with the use of skin and muscle chimeric flaps. Harvesting of twin ALT flaps or the use of lattisimus dorsi as one of the flaps requires a 2 stage surgery to avoid prolonged operative time.
Evaluation of thermal and concentration slip effects on heat and mass transmission of nanofluid over a moving wedge surface using Keller box scheme
Authors: Ullah Zia , Alam Md Mahbub , Elhag S. H. , Merga Feyisa Edosa , Haider Irfan , Malik Arfa 
Published: October 2024

The current research is based on the impact of thermal and solutal slip in the boundary layer nanofluid flow through a moving accelerating wedge. The present investigation is considered with the influence of Brownian motion and thermophoresis. Thermal insulation, geothermal engineering, crude oil extraction, and heat exchangers are very important applications of nanofluid movement over a wedge surface with thermal and concentration slip. The suggested mathematical analysis is expressed in terms of partial differential equations (PDEs). These PDEs are transformed into ordinary differential equations via similarity transformation. The Keller Box technique is used to integrate the resultant non-similar equations. The set of discretized and first order differential equations is formed with the help of central difference and the Newton–Raphson technique. The graphical and numerical results are extracted with the help of MATLAB. The numerical results with the influence of the Prandtl factor (Pr), constant moving factor (λ), thermal slip factor (S2), and concentration slip parameter (S2) are interpreted visually and numerically. Graphical representations of velocity, thermal, and mass concentration profiles are analyzed in depth. The solution for skin friction coefficient, heat transport rate, and mass transport rate is calculated. The moving velocity function increases as Pr increases. The rate of slip temperature and slip concentration rate is enhanced for a lower Prandtl factor. The maximum slip behavior in temperature function and fluid concentration slip is deduced for each value of thermal-slip and concentration-slip factors. For high Prandtl and Brownian motion factors, the rate of Nusselt number is enhanced significantly.
Denoising method for colonic pressure signals based on improved wavelet threshold
Authors: Cui Liu , Si Zhisen , Zhao Kai , Wang Shuangkui 
Published: October 2024

Abstract
The colonic peristaltic pressure signal is helpful for the diagnosis of intestinal diseases, but it is difficult to reflect the real situation of colonic peristalsis due to the interference of various factors. To solve this problem, an improved wavelet threshold denoising method based on discrete wavelet transform is proposed in this paper. This algorithm can effectively extract colonic peristaltic pressure signals and filter out noise. Firstly, a threshold function with three shape adjustment factors is constructed to give the function continuity and better flexibility. Then, a threshold calculation method based on different decomposition levels is designed. By adjusting the three preset shape factors, an appropriate threshold function is determined, and denoising of colonic pressure signals is achieved through hierarchical thresholding. In addition, the experimental analysis of bumps signal verifies that the proposed denoising method has good reliability and stability when dealing with non-stationary signals. Finally, the denoising performance of the proposed method was validated using colonic pressure signals. The experimental results indicate that, compared to other methods, this approach performs better in denoising and extracting colonic peristaltic pressure signals, aiding in further identification and treatment of colonic peristalsis disorders.
The impact of regional resources and technology availability on carbon dioxide removal potential in the United States
Authors: Javadi Parisa , O’Rourke Patrick , Fuhrman Jay , McJeon Haewon , Doney Scott C , Shobe William , Clarens Andrés F 
Published: October 2024

Abstract
To achieve net zero carbon emissions by mid-century, the United States may need to rely on carbon dioxide removal (CDR) to offset emissions from difficult-to-decarbonize sectors and/or shortfalls in near-term mitigation efforts. CDR can be delivered using many approaches with different requirements for land, water, geologic carbon storage capacity, energy, and other resources. The availability of these resources varies by region in the U.S. suggesting that CDR deployment will be uneven across the country. Using the global change analysis model for the United States (GCAM-USA), we modeled six classes of CDR and explored their potential using four scenarios: a scenario where all the CDR pathways are available (Full Portfolio), a scenario with restricted carbon capture and storage (Low CCS), a scenario where the availability of bio-based CDR options is limited (Low Bio), and a scenario with constraints on enhanced rock weathering (ERW) capabilities (Low ERW). We find that by employing a diverse set of CDR approaches, the U.S. could remove between 1 and 1.9 GtCO2/yr by midcentury. In the Full Portfolio scenario, direct air carbon capture and storage (DACCS) predominates, delivering approximately 50% of CO2 removal, with bioenergy with carbon capture and storage contributing 25%, and ERW delivering 11.5%. Texas and the agricultural Midwest lead in CDR deployment due to their abundant agricultural land and geological storage availability. In the Low CCS scenario, reliance on DACCS decreases, easing pressure on energy systems but increasing pressure on the land. In all cases CDR deployment was found to drive important impacts on energy, land, or materials supply chains (to supply ERW, for example) and these effects were generally more pronounced when fewer CDR technologies were available.