bluuebunny/crossref_metadata_2025 huggingface dataset:
On fast-ion transport induced by edge localized modes
Authors: Chen Haotian , Chen Wei
Published: January 2025

Fast ions in a tokamak device exhibit a notable acceleration phenomenon during edge localized modes (ELMs). Presented here is an analytical analysis of the phase space transport of fast ions induced by ELMs. Counter to previous simulations, it is shown that ELMs can be inefficient in accelerating fast ions in the case of a low frequency nature. Instead, the transport of fast ions is characterized by the radial particle transport, as a result of the exchange of canonical toroidal angular momentum. The associated diffusivity is found to increase drastically for high energy particles, causing the velocity space measurements of fast ion losses to appear as an acceleration process. The theoretical results are not only consistent with recent experimental observations, but also carry practical implications for the performance of future tokamak reactors.
Anomalous dynamic scaling of Ising interfaces
Authors: Rodríguez-Fernández Enrique , Santalla Silvia N , Castro Mario , Cuerno Rodolfo
Published: January 2025

Until very recently, the asymptotic occurrence of intrinsic anomalous scaling has been expected to require concomitant effects for kinetically rough interfaces, like quenched disorder or morphological instabilities. However, counterexamples have been recently reported for simpler situations dominated by time-dependent noise, as in the discrete growth system associated with an Ising model proposed by Dashti-Naserabadi et al (2019 Phys. Rev. E 100, 060101(R)), who assessed the equilibrium behaviour of the model. Here, we revisit this system to characterise its time-dependent behaviour in two and three dimensions (one- and two-dimensional interfaces, respectively). While the 3D case seems dominated by a fast evolution beyond critical dynamics, in the 2D case, numerical simulations of an associated time-dependent Ginzburg–Landau equation retrieve the same static (roughness) exponents and the same intrinsic anomalous scaling ansatz as in the equilibrium case throughout the complete time evolution. However, the dynamic exponent is seen to cross over between two different values, none of which enables identification with previously known universality classes of kinetic roughening. Moreover, simulations for larger system sizes suggest a breakdown of scaling behaviour at the largest scales, suggesting that the previously reported scaling behaviour may be effective and restricted to relatively small systems.
Numerical simulation of sound propagation in shear layer based on linearized lattice Boltzmann method
Authors: Cao Shuqi , Chen Rongqian
Published: January 2025

In the process of sound propagation, the flow-field structures such as the shear layer, the jet, and the vortex, as well as the physical structures such as the solid wall and the obstacle, will change the sound propagation characteristics, resulting in phenomena like refraction, reflection, and scattering, which will greatly affect the location of the sound source. The linearized lattice Boltzmann method is further linearized while maintaining the advantages of the lattice Boltzmann method, and realizes the decoupling of acoustic small disturbance and mean flow. In this paper, the distortion characteristics of sound propagation in the shear layer are studied by solving the linearized lattice Boltzmann equation, and the ability of the linearized lattice Boltzmann method to simulate sound wave propagation in the complex flow field is verified.
Motion response analysis of multi-module hinged floating structures based on CFD-FEA method
Authors: He Xin , Fang Ziqing , Wang Shaofeng , Wang Chunbo , Zhao Jiancheng
Published: January 2025

The motion responses for a hinged floating structure are usually difficult to model due to the complex turbulence phenomenon. A systematic analysis of the motions of the multi-module hinged floating bridge in different wave conditions was carried out using the method. The RANS and VOF techniques captured the turbulence phenomenon very well. Through conducting a co-simulation with the multi-module hinged floating structure, it was verified that the developed coupling method can accurately simulate almost all physical characteristics in the range of the floating structure’s motions under wave loading. The numerical CFD-FEA method proposed in this paper exhibited an obvious advantage over the traditional analysis methods.
A parameter estimation algorithm using up-sweep and down-sweep hyperbolic-frequency-modulated waveforms
Authors: Pang Yuhong , Yan Qi , Chen Tuo
Published: January 2025

When the transmitted signal of the active sonar is continuous up-sweep HFM and down-sweep HFM, because of the Doppler invariance, there will be two peaks after matched filtering, which is used to estimate the target range and velocity. If the target moves slowly, the two peaks are close together. In this case, the velocity resolution will be reduced if the sequential detection is still utilized. To solve this problem, an algorithm is proposed based on the analysis of the matched filter character of the continuous up-sweep and down-sweep HFM. Simulation analysis shows that the proposed algorithm improves the resolution of parameter estimation when using sequential detection.
Unstructured Content
Authors: van Elswyk Peter , Kirk-Giannini Cameron Domenico , Egan Andy , Kindermann Dirk
Published: January 2025

In this introductory chapter, the editors begin by explaining the theoretical roles propositional contents are posited to play. They then introduce unstructured theories of propositions, according to which propositions are sets of truth-supporting circumstances, and discuss how well equipped such theories are to play those roles. Unstructured theories provide particularly direct explanations of the role of assertoric content in discourse and inferential relations between sentences, propositions, and propositional attitudes. However, they struggle with issues related to the individuation of propositional contents, since they hold that necessarily equivalent contents are identical. The editors discuss several possible responses to this objection. The chapter concludes by summarizing the contributions contained in this volume.
Attitudes and Propositions
Authors: Perry John
Published: January 2025

In this chapter, John Perry argues that theories of propositional attitudes which construe them as relations to propositions are mistaken. Instead of understanding propositional attitudes as relations to propositions, Perry suggests understanding them as structured brain states, where the structure of a given belief is determined by how it is constructed out of smaller building-blocks which he calls ideas. Thinking about beliefs in this way is constructive, he maintains, because it allows us to distinguish between two senses in which beliefs have truth conditions. A belief’s referential truth conditions are the conditions we get by holding fixed both its structure and the referents of its constituent ideas. A belief’s reflexive truth conditions are the conditions we get if we do not hold fixed the referents of its constituent ideas. Perry argues that this distinction is important because we care mostly about referential truth conditions when our goal is to convey information about the world and mostly about reflexive truth conditions when our goal is explanatory.
Fregean Particularism
Authors: Schellenberg Susanna
Published: January 2025

In this chapter, Susanna Schellenberg develops a new understanding of singular modes of presentation. According to Fregean Particularism, singular modes of presentation are generated by the mental capacities employed that bring about the relevant mental state and the objects or features in the world (if any) thereby singled out. Consequently, modes of presentation can be individuated at the level of content types and token contents. Content types are individuated by the capacities employed. Content tokens are individuated by the capacities employed and the mind-independent particular thereby singled out. Applied to perception, the view holds that perceptions, hallucinations, and illusions with the same phenomenal character are constituted by employing the same perceptual capacities; they thereby share a content type. But the token content of perception, hallucination, and illusion differs at least in part.
Negative Philosophy
Authors: Bruno G Anthony
Published: January 2025

Chapter 4 introduces Kant’s ‘doctrine of epistemic reciprocity’ and explains how it is meant to prove the categories’ objective reality through their application in sense experience and thus how this doctrine answers the ‘question quid indicii.’ Next, the chapter articulates Maimon’s skepticism about any such answer, which he expresses as the empty formalism challenge against both Kant’s categories and Reinhold’s first principle. It then shows that Schelling appropriates Maimonian skepticism as a partial means to exhibiting the twofold factical presupposition of Hegel’s science of intelligibility. On the one hand, Hegel’s science presupposes its own endorsement and purpose, which Schelling represents with the non-empirical concepts of the past and the future, respectively. On the other hand, Hegel’s science presupposes the brute fact of existence as such, whose intelligibility requires, according to Schelling, not simply a negative science of thought-determinations that by themselves would be empty forms, but also a reciprocally dependent positive science of the experience of existence. I conclude with an account of how Schelling’s critique of Hegel provides the first post-Kantian defense of facticity.
Building Community at Work
Authors: Boyd Neil
Published: January 2025

Since the beginning of management, employees and managers alike have been searching for ways to be happy and productive at work. Among the plethora of concepts and models that attempt to explain how to create emotionally satisfying and behaviorally productive work settings, the topic of community at work, ironically, has been underexplored. Anecdotally, when asked what people like about their workplace, it is not uncommon to hear sentiments emphasizing communal relationships such as “Here, I’m part of a community” or “We’re like a family.” In recent years, management scholars have given increased attention to the topic of developing communities in organizational settings. The book is designed to be an engaging piece that will help academics understand and study community at work and help employees and leaders of organizations design and build community at work.
Conceptual Needs
Authors: Queloz Matthieu
Published: January 2025

This chapter argues that conceptual needs are the missing link mediating between concepts and concerns. After clarifying this notion, the chapter explores to what extent concepts can express the conditions in which they would be worth using even when these conditions are not given. As these needfulness conditions remain intractable, the notion of a need matrix—an incomplete but illuminating model of these conditions—is introduced to render them more tractable. Various ways in which needs-based appraisal can be put into practice are then considered. It is shown how one can work back from a concept to its needfulness conditions by treating two variables in a need matrix as constants while solving for the third, and how needs-based appraisal draws attention to overlooked desiderata on conceptualization. Finally, the four problems identified in the previous chapter are solved.
Local earthquake tomography of the Alpine region from 24 years of data
Authors: Bagagli M , Molinari I , Diehl T , Kissling E
Published: January 2025

We present a new 3-D crustal P-wave velocity (VP) model for the greater Alpine region (GAR). We use and merge three different high-quality datasets for local earthquake tomography covering 24 yrs, starting from 1st January 1996, up to 31st December 2019. We processed and repicked the waveforms from the events reported by the European–Mediterranean Seismological Centre with M > 3.0 inside the greater Alpine region for the period between May 2007 and December 2015 using a recently developed automated arrival time-picking procedure (ADAPT framework). This allows bridging the data gap between previously published (pre-2007) datasets and the recently published AlpArray research seismicity catalogue and thus provides a high-quality, highly consistent set of P-wave arrival times covering 24 yrs. With this dataset we derived a new minimum 1-D VP model and associated station delays covering the entire GAR. Subsequently, we performed a series of local-earthquake-tomography (LET) inversions obtaining a 3-D VP model with a horizontal node spacing of 20×20 km and between 7 and 15  km variable vertical spacing in the well-resolved area of investigation, thus improving the spatial and uniformly high-resolution coverage compared to previous LET studies in the area. For well-known major crustal structures, such as, for example, the geophysical Ivrea body, deep foreland basins and main orogenic crustal roots, our tomographic results correlate well with features documented by various previous seismic studies in the region. This correlation increases our confidence in the model's accuracy throughout the well-resolved area. Additionally, our model reveals previously poorly known, or unknown crustal features and it documents details in the Moho topography throughout the region. Eventually, we present a LET-Moho map (VP isoline of 7.25 km s−1) for the GAR with spatially nearly uniform resolution and document its comparison with previously published Moho maps. The new regional 3-D VP crustal model also correlates well with a previously published VS crustal model obtained by ambient noise tomography. These comparisons document the new LET results of combined 3-D VP crustal velocities and Moho topography being intrinsically consistent and reliable within the region of high resolution. Hence, in addition to further improving our understanding of crustal structure geometries in the GAR, our results also provide pivotal information for a future reference seismic 3-D crustal model of the region.
Detection of ubiquitous circumbinary matter in hot subdwarfs formed from common-envelope ejections
Authors: Li Jiangdan , Wolf Christian , Li Jiao , Luo Yangping , Zhao Jingkun , Chen Bingqiu , Zhang Lin , Jia Shi , Chen Xuefei , Han Zhanwen
Published: January 2025

The formation of compact binary systems is largely driven by their evolution through a common envelope (CE) phase, crucial for understanding phenomena such as type Ia supernovae and black hole mergers. Despite their importance, direct observational evidence for CE material has been elusive due to the transient nature of these envelopes. Numerical simulations suggest that some envelope material may persist post-ejection. In this study, we investigate circumstellar material (CSM) surrounding hot subdwarf (sdB) stars, focusing on material ejected during the CE phase of binary evolution. We analyse Ca ii K absorption lines in 727 sdB candidates from the LAMOST-LRS survey, selecting 145 stars with strong absorption features, indicating the presence of CSM. We compare the velocities of the Ca ii K lines with the systemic velocities of sdB binaries, confirming that the material originates from ejected CE material. The results show that the CSM persists long after the CE event, suggesting the formation of a stable, long-lived circumstellar environment around sdB stars. This study enhances our understanding of the role of CSM in post-CE evolution and provides new insights into the physical processes shaping the evolution of sdB binaries.
Legacy Effects of Cover Crop on Cash Crop Rhizosphere Microbiota in a No-Till Maize-Soybean Cropping System
Authors: Yin Chuntao , Osborne Shannon L. , Lehman R. Michael
Published: January 2025

Introducing cover crops is a conservation practice that diversifies cropping systems and counteracts detrimental consequences of simplified cropping systems. However, legacy effects of cover crops on cash crop rhizosphere microbiota are poorly understood. We investigated the response of cash crop rhizosphere microbiota following five years of cover crops (winter rye for maize and a mixture of winter rye, forage turnip, clover, Berseem and Crimson for soybean) introduced into a long-term maize-soybean rotation. Five years of cover crop integration significantly increased the average soybean yields and marginally increased maize yields between 2018 and 2022. Cover crops had significant effects on soybean rhizosphere microbiota selecting bacterial genera within Actinobacteria and Thaumarchaeota phyla and some potentially pathogenic fungi species. There was no significant effect of cover crops on maize rhizosphere microbiota. Cash crop growth stage had consistent, significant effects on both soybean and maize rhizosphere microbiota and accounted for a higher percentage variation in the rhizosphere microbiota compared to cover crops. Crop growth stage effects were notably strong at the flowering stage for soybean and the seedling stage for maize. The soybean rhizosphere was enriched with nitrogen-fixing bacteria in the flowering stage, whereas the maize rhizosphere recruited a high abundance of plant growth-promoting bacteria in the seedling stage. Cover crops did not significantly improve six selected soil health indicators, with the weak responses linked with cash crop identity. Cover crop legacies may promote beneficial changes in cash crop rhizosphere microbiota, but legacy assessments should account for cash crop identity and growth stage.
Development of Multiservice Machine Learning Models to Predict Postsurgical Length of Stay and Discharge Disposition at the Time of Case Posting
Authors: Zaribafzadeh Hamed , Howell T. Clark , Webster Wendy L. , Vail Christopher J. , Kirk Allan D. , Allen Peter J. , Henao Ricardo , Buckland Daniel M.
Published: January 2025

Objective:

Develop machine learning (ML) models to predict postsurgical length of stay (LOS) and discharge disposition (DD) for multiple services with only the data available at the time of case posting.

Background:

Surgeries are scheduled largely based on operating room resource availability with little attention to downstream resource availability such as inpatient bed availability and the care needs after hospitalization. Predicting postsurgical LOS and DD at the time of case posting could support resource allocation and earlier discharge planning.

Methods:

This retrospective study included 63,574 adult patients undergoing elective inpatient surgery at a large academic health system. We used surgical case data available at the time of case posting and created gradient-boosting decision tree classification models to predict LOS as short (≤1 day), medium (2–4 days), and prolonged stays (≥5 days) and DD as home versus nonhome.

Results:

The LOS model achieved an area under the receiver operating characteristic curve (AUC) of 0.81. Adding relative value unit and historical LOS through the similarity cascade increased the accuracy of short and prolonged LOS prediction by 9.0% and 3.9% to 72.9% and 74%, respectively, compared with a model without these features (P = 0.001). The DD model had an AUC of 0.88 for home versus nonhome prediction.

Conclusions:

We developed ML models to predict, at the time of case posting, the postsurgical LOS and DD for adult elective inpatient cases across multiple services. These models could support case scheduling, resource allocation, optimal bed utilization, earlier discharge planning, and preventing case cancelation due to bed unavailability.
Portal vein thrombosis complicating neonatal umbilical vein catheterization in a 3-month-old infant with coincidental extrahepatic biliary atresia: A case report
Authors: El-Shabrawi Mortada H.F. , Abdel Sattar Ayman Hussein , Hassanin Fetouh , Sheba Maha Fathy , Elhennawy Ahmed , Kamal Naglaa M. , Oshi Mohammed A.M. , Algarni Ali , Marzouk Seham Anwar Emam
Published: January 2025

Rationale:

Umbilical vein catheterization (UVC) is a common procedure in neonatal intensive care units (NICU) but carries risks of severe complications such as portal vein thrombosis (PVT). Extrahepatic biliary atresia (EHBA), a leading cause of neonatal cholestasis, often progresses to end-stage liver disease. This case report discusses the rare coexistence of PVT and EHBA in a 3-month-old infant, highlighting the critical need for timely diagnosis and intervention.

Patient concerns:

A 3-month-old female presented with jaundice, dark-colored urine, and clay-colored stools. She had a history of NICU admission for neonatal sepsis during which a UVC was inserted.

Diagnoses:

Physical examination revealed jaundice and hepatosplenomegaly. Abdominal ultrasonography identified hepatosplenomegaly, mild ascites, and portal cavernoma. A liver biopsy confirmed a diagnosis of EHBA.

Interventions:

The patient underwent Kasai portoenterostomy. Postoperatively, she developed complications including ascites, systemic hypertension, and hyperammonemia. Initial improvements were observed with decreased bilirubin levels.

Outcomes:

Despite initial stabilization, the patient’s condition deteriorated, and she succumbed on day 15 postoperation.

Lessons:

This case underscores the significant risks of PVT associated with UVC and the importance of monitoring NICU graduates for early detection of complications. The early onset of portal hypertension and esophageal varices in this case challenges existing beliefs about EHBA’s clinical progression. Greater awareness and routine follow-up imaging are essential to improve outcomes in similar scenarios.
Rare acute generalized exanthematous pustulosis caused by iodixanol: A case report
Authors: Ma Xiuxiu , He Chaozhu , Zeng Xiaohong , He Xiaohua , Bi Yanfang
Published: January 2025

Rationale:

Acute generalized exanthematous pustulosis (AGEP) is a rare delayed allergic reaction, which is mostly caused by drugs, but there are few reports of iodixanol in particular. At present, 4 cases induced by iodixanol have been reported in the literature, but none have been reported in China.

Patient concerns:

In this report, we report a case of AGEP induced by intravenous bolus infusion of iodixanol during multislice spiral CT enhanced scanning of the whole abdomen in a patient with rectal malignancy. A 35-year-old female patient presented with a larger rash/erythema on the head and neck and felt itchy.

Diagnoses:

A large erythema/rash and white, sterile pustules based on erythema spread from head, neck to the whole body in a short period of time. Blood cell results showed high levels of white blood cell, neutrophils, C-reactive protein and interleukin-10, and decreased levels of some immune indicators. Pathological biopsy results showed that there was immune cell infiltration around the superficial dermis.

Interventions:

Immediate avoidance of potential allergens and treatment with steroids, antihistamines and other medications, followed by adjustment with cyclosporine and human immunoglobulin.

Outcomes:

At 1 year’s follow-up, the patient did not develop any symptoms of discomfort and increased awareness of allergen prevention.

Lessons:

The reported case is an extremely rare and severe AGEP, typically characterized by pruritus, edema, large erythema/rash, dense white needle-like sterile pustules based on erythema/rash, and desquamation. After discontinuation of exposure to iodixanol, the patient received symptomatic supportive treatment, mainly drug response. She eventually recovered without recurrence. In the future, with the in-depth exploration of more studies, the use of Iodine Contrast Media will be more standardized and scientific.
Successful pregnancy in a complex chromosomal rearrangement carrier using preimplantation genetic testing for structural rearrangements: A case report
Authors: Wang Yacong , Ke Xue , Liang Xuefei , Ouyang Xiaolan , Yang Xiaoxi , Wang Fang
Published: January 2025

Rationale:

Complex chromosomal rearrangements (CCRs) frequently lead to unfavorable reproductive consequences, such as recurrent miscarriage. Preimplantation genetic testing for structural rearrangements (PGT-SR) has become a successful method for embryo diagnosis in CCR families.

Patient concerns:

A woman of childbearing age experienced repeated miscarriages during her attempts to conceive.

Diagnoses:

A woman was diagnosed with a combined Robertsonian translocation involving chromosomes 13 and 15 (robs[13;15]) and a reciprocal translocation involving chromosomes 10 and 12 (t[10;12]). She had undergone 5 previous embryonic terminations.

Interventions:

The couple underwent assisted reproductive technology with ovulation induction using a high-progesterone progestin-primed ovarian stimulation protocol, followed by intracytoplasmic sperm injection and blastocyst culture. Embryo biopsy was carried out on days 5 and 6, and PGT-SR was employed for genetic diagnosis.

Outcomes:

After aneuploidy detection by PGT-SR, the sole remaining blastocyst underwent preimplantation genetic testing for aneuploidy for confirmation and subsequent transfer. Prenatal diagnosis and follow-up after birth were conducted.

Lessons:

For CCR carriers, particularly couples with a history of recurrent abortion, PGT-SR has the potential to address their reproductive predicament by enhancing their likelihood of achieving a successful pregnancy.
Resection of a cardiac lipoma and reconstruction wall of right atrium: A case report
Authors: Wen Zhi , Wang Zheng , Guo Jian , Wu Changxue
Published: January 2025

Rationale:

Cardiac lipomas are known to cause functional disturbances and symptoms by compressing adjacent tissues or organs, leading to potential complications such as dyspnea, palpitations, and cardiac arrhythmias. We report a case of a 52-year-old female with a large, well-circumscribed lipoma in the right atrium. This rare condition required a comprehensive diagnostic approach and therapeutic strategy for effective management.

Patient concerns:

A 52-year-old female patient presented to the hospital with complaints of palpitations and fatigue lasting for 1 month, accompanied by the recent discovery of a cardiac mass via echocardiography over the past 2 days. In addition, she reported occasional episodes of a dry cough.

Diagnoses:

Both echocardiography and cardiac computed tomography imaging revealed an isoechoic mass within the right atrium, characterized by a regular shape and close attachment to the right atrial wall, displaying noticeable mobility. Histopathological analysis following surgical intervention confirmed that the tumor was predominantly comprised of adipocytes.

Interventions:

The patient underwent successful resection of the right atrial lipoma, followed by reconstruction of right atrium using a bovine pericardial patch under extracorporeal circulation with a beating heart.

Outcomes:

Postoperative recovery was complete, with resolution of symptoms including palpitations and fatigue. A follow-up echocardiogram on the 66th day postsurgery confirmed the absence of any residual tumor.

Lessons:

Patients with small lipoma often remain asymptomatic. However, large or rapidly progressing tumors may elicit symptoms such as chest pain, dyspnea, and palpitations. For asymptomatic patients with small tumors, regular observation and follow-up are typically advised to monitor tumor growth and the emergence of symptoms. Conversely, patients with large tumors or overt symptoms should be recommended for prompt surgical intervention. In this case, preoperative anatomical evaluation for the lipoma involves the right atrial free wall, which is crucial to prevent excessive resection, damage to the lateral bundle branch, and subsequent postoperative cardiac dysfunction or arrhythmia, as exemplified in this patient.
Imaging features of bronchogenic cyst of the stomach: A case report with literature review
Authors: Dong Deshuo , Chen Anliang , Liu Ailian
Published: January 2025

Rationale:

Bronchogenic cyst (BC) is a congenital disease characterized by an anomaly of the foregut in the embryonic stage. Gastric BC is exceedingly rare and has never been accurately diagnosed prior to surgery; it is often misidentified as gastric stromal tumor, with the definitive diagnosis confirmed through postoperative specimens. Although gastric BC is considered a benign lesion, its prognosis remains uncertain, underscoring the importance of accurate preoperative identification.

Patient concerns:

The present study reported the case of a 64-year-old female who presented with 2 incidentally detected lesions of the gastric corpus and antrum. Computed tomography and magnetic resonance imaging showed cystic lesions with delayed enhancement of the cyst wall and no enhancement of the cyst contents.

Interventions and Diagnoses:

The patient underwent a laparoscopic partial gastrectomy. BC was diagnosed by histopathology and immunohistochemistry after surgery.

Outcomes:

The patient had an uneventful hospital course and was discharged on the eleventh postoperative day. No recurrence or metastasis was observed after 33 months.

Lessons:

BC of the stomach is mostly ovate in shape with well-defined margins. The cyst wall shows prolonged enhancement and calcification may occur at the edges. The density and signal of the cyst content varied with composition. These imaging features are helpful for differentiating diagnoses from other diseases.
Stüve–Wiedemann syndrome with a novel variant in the LIFR gene: A case report
Authors: Sherbiny Hanan Sakr , Alfaifi Jaber A. , Ahmed Anees Obaid , Hassan Hany , Abdullah Raydaa , Alsuwat Shaher A. , Al-Juaid Raghad M. , Neyaz Aseel A. , Oshi Mohammed A. M. , Kamal Naglaa M.
Published: January 2025

Rationale:

Stüve–Wiedemann syndrome (SWS) is a rare, severe autosomal recessive disorder (#OMIM 601559) caused by pathogenic variants in the LIFR gene. It is characterized by skeletal dysplasia and dysautonomia and carries a high mortality rate in infancy, which decreases significantly after the age of 2. Detailed case descriptions enhance understanding of this rare condition.

Patient concerns:

We report a male, full-term infant born to consanguineous Yemeni parents with no family history of genetic disorders. Prenatal ultrasound revealed short, bowed long bones suggestive of skeletal dysplasia. At 12 hours of age, the infant developed respiratory distress, poor sucking, and an agitated cry. At 48 hours, he experienced unexplained hyperthermia, and a comprehensive septic workup was negative.

Diagnoses:

Initial findings included generalized hypotonia, hyporeflexia, and dysmorphic features (micrognathia, camptodactyly, short, and bowed limbs). Radiographic imaging revealed skeletal abnormalities. Whole exome sequencing identified a novel homozygous pathogenic variant in the LIFR gene (c.2257dup p.(Arg753Lysfs*20)), confirming the diagnosis of autosomal recessive SWS type 1.

Interventions:

The infant was admitted to the neonatal intensive care unit, received nasal oxygen support, and was managed with orogastric tube feeding due to poor sucking and swallowing.

Outcomes:

At 5 months, the infant remains dependent on orogastric tube feeding, with less frequent hyperthermic episodes.

Lessons:

SWS is a rare genetic disorder with a wide phenotypic spectrum. Early recognition and multidisciplinary management are crucial to addressing the high mortality risk associated with dysautonomia in infancy. Case reports of novel variants contribute to a deeper understanding of SWS and highlight the importance of tailored clinical care for improved outcomes.
A review of symptom, pathogenesis and treatment characteristics of the elderly with chronic insomnia
Authors: Xia LiBo , Liu HaiYan , Ren JiXiang
Published: January 2025

One third of a person’s life is in a state of sleep, and good sleep quality is one of the indicators of health. Long-term insomnia has a great impact on patients’ quality of life, physical and mental state. Especially in the elderly, long-term insomnia will induce a variety of chronic diseases, seriously affecting the quality of life. Because of the characteristics of the physiological structure of the elderly, insomnia in the elderly has its unique characteristics different from that of the young. This article reviews the characteristics of chronic insomnia in the elderly in terms of symptom, pathogenesis and treatment. By elaborating the characteristics of senile chronic insomnia, we hope to provide ideas for clinical treatment of senile chronic insomnia.
Rare association of granulomatosis with polyangiitis with an underdiagnosed spondyloarthritis effectively treated with rituximab: A case-report
Authors: Escoda Thomas , Dehaene Aurélie , Velardocchio Laetitia , Deveze Arnaud , Terrier Benjamin , Chiche Laurent
Published: January 2025

Rationale:

Associations of autoimmune diseases are rare but interesting and challenging situations from a diagnostic, pathophysiological, and therapeutic point of view. This article studies a rare association of autoimmune diseases by discussing the pathophysiological hypotheses and an original therapeutic management. The coexistence of antineutrophil cytoplasmic antibody-associated vasculitis and spondyloarthritis has rarely been described.

Patient concerns:

We present a patient with inflammatory back pain, stiffness, and enthesopathies followed by pulmonary and ear, nose and throat granulomatous involvement.

Diagnoses:

A combination of spondyloarthritis and granulomatosis with polyangiitis, with spinal, enthesopathic, pulmonary, and ear, nose and throat involvement.

Interventions and outcomes:

Effective treatment with rituximab both on spondyloarthritis and vasculitis.

Lessons:

We discuss the pathogenic, diagnostic, and therapeutic implications of this rare but intriguing association between these 2 inflammatory conditions.
Potential prognostic and immunologic significances of ADAM8 in clear cell renal cell carcinoma
Authors: Chu Ming Chuan , Zhang Zhi Lei , Wang Zhi Qiang , Li Zong Yang , Guo Yong Shun
Published: January 2025

Background:

A Disintegrin And Metalloproteinase 8 (ADAM8) has been implicated in the development and progression of several cancers. However, further studies are needed to determine the value of ADAM8 in ccRCC. The research aimed to investigate the prognostic and immunologic significance of ADAM8 in ccRCC from the perspective of bioinformatics.

Methods:

We analyzed the expression and prognosis of ADAM8 in ccRCC using The Cancer Genome Atlas and validated it with Gene Expression Omnibus and immunohistochemistry assay. Functional enrichment analysis was conducted to investigate the signaling pathways. And the relationship between ADAM8 and the tumor microenvironment was analyzed using the CIBERSORT algorithm. Furthermore, the study explored the response to immunotherapy of ccRCC by using The Cancer Immunome Atlas database data. Potential drugs for treating ccRCC were discovered using the Connectivity Map.

Results:

The expression of ADAM8 was significantly elevated in ccRCC tissues. CcRCC patients with higher levels of ADAM8 expression had poorer prognosis, and ADAM8 was shown to be an independent predictive risk factor for ccRCC. The functional enrichment analysis revealed relevant signaling pathways. Furthermore, we found that ADAM8 expression correlates strongly with the extent of immune cell infiltration and immunotherapy. Finally, 4 groups of potential drugs for the treatment of ccRCC were identified.

Conclusion:

Our research found that ADAM8 could have a significant impact on the development, progression, immunotherapy and prognosis of patients with ccRCC, and may be a promising prognostic and immunotherapeutic target. The study provides a new insights that may be useful in helping to manage ccRCC.
Biochemical markers to detect protein malnutrition in type 2 diabetes and liver cirrhosis patients
Authors: Mohammedsaeed Walaa M. , Binjawhar Dalal , Surrati Amal M.
Published: January 2025

The study aimed to evaluate blood biochemical markers in individuals with type 2 diabetes (T2D) and liver cirrhosis (LC) to discover if they may be utilized to assess their nutritional status, specifically protein malnutrition (PM). A retrospective examination of 500 T2D patients referred to the hospital from January 2022 to December 2023 was performed. After that, participants were split into 2 groups: LC and non-LC. The research comprised T2D individuals with LC. We used their medical data and referring physician reports. Two hundred thirty-five (47%) individuals diagnosed with both T2D and LC were included in the study out of a total of 500 patients referred to Madinah Hospital. The LC group had greater average age, body mass index (BMI), fasting blood glucose, hemoglobin A1c, insulin resistance, and triglycerides as compared to other T2D patient groups without LC. Two hundred thirty-five people with LC were evaluated nutritionally using biomarkers including total protein, albumin, urea, creatinine, and transferrin, which can be a useful evaluation method. A 53.2% of individuals with LC and T2D had PM. A 47% of 500 individuals with T2D and LC. LC had elevated levels of BMI, lipids, liver enzymes, and total bilirubin. A 53.2% had PM as shown by biochemical markers, which might be useful in evaluating patients’ nutritional status. PM correlated with older age, decreased hemoglobin levels, reduced total protein, albumin, and transferrin but high ALP with high BMI index (obese). These findings can assist T2D with LC specialists develop better nutritional management and quality of life methods.
Gut microbiota, inflammatory cytokines and gastro-esophageal reflux disease: A Mendelian randomization analysis
Authors: Wang Qilin , Ma Shenghui , Liu Mengjie , Tao Yu , Sun Zhiguang
Published: January 2025

Gut microbiota has been recognized as an extrahepatic manifestation of gastro-esophageal reflux disease (GERD) in observational studies. However, the directionality and causality of the association and whether cytokines act as a mediator remain unclear. We aim to estimate the casual relationship between gut microbiota, inflammatory cytokines and GERD using a 2-sample Mendelian randomization method. Gut microbiota, cytokines, and GERD were identified using summary data from the genome-wide association studies and the FinnGen consortium. The primary method for causal estimation was the inverse-variance weighted approach, complemented by a range of sensitivity analyses aimed at assessing heterogeneity, horizontal pleiotropy, and the robustness of the findings. Furthermore, mediation analysis was conducted to evaluate the association between gut microbiota and GERD, with 5 cytokines, and to calculate the mediated proportions. We found 3 positive and 3 negative causal associations observed between genetic predisposition in gut microbiota and GERD. Additionally, 2 positive and 3 negative causal associations were identified between cytokines and GERD. Our analysis unveiled that TNF-related apoptosis-inducing ligand levels (TRAIL) mediated the causal relationships between the genera Family XIII UCG001 and Senegalimassilia, and GERD. We identified causal effects between 6 bacterial traits, 5 inflammatory cytokines, and GERD. Notably, we furnished causal evidence linking TRAIL levels to a substantial proportion of the risk attributed to genus Family XIII UCG001 and genus Senegalimassilia, thereby mediating the risk of GERD. These findings offer novel avenues for therapeutic interventions targeting individuals with GERD.
HIV Pre-Exposure Prophylaxis (PrEP) awareness and use among Rakai Community Cohort Study youth aged 15-24
Authors: Murphy Emily , Hoffman Susie , Ssempijja Victor , Nalugoda Fred , Chang Larry W. , Ssekubugu Robert , Lutalo Tom , Kigozi Godfrey , Kagaayi Joseph , Sewankambo Nelson K. , Reynolds Steven J. , Santelli John , Kreniske Philip
Published: January 2025

Background:

Preventing HIV infections among adolescents and young adults (AYA) is crucial for curtailing the epidemic. Oral pre-exposure prophylaxis (PrEP) is a highly effective prevention method increasingly available to this age group in sub-Saharan Africa but population-based data on awareness and use of PrEP among AYA remains limited.

Methods:

Analyzing survey data from two rounds of the Rakai Community Cohort Study, an open, population-based cohort, we estimated prevalence ratios associating various sociodemographic characteristics with PrEP awareness and ever-use among 15- to 24-year-olds in south-central Uganda between 2018 and 2023.

Results:

Most (62.4%, N=3,308/5,301) participants were aware of PrEP as an HIV prevention method but only 1.7% (N=133/7,999) of AYA had ever used it. Among the 35.5% (N=2,838/7,999) of participants meeting PrEP eligibility criteria, ever-use was similarly rare (2.6%, N=75/2,838). Compared to 20 to 24-year-olds, 15 to 19-year-olds were less likely to report awareness (fullyadjPR=0.82, 95%CI 0.78, 0.86) or ever-use (fullyadjPR=0.35, 95%CI 0.21, 0.58). Participants from fishing communities were more likely to be PrEP-aware (fullyadjPR=1.22, 95%CI 1.16, 1.29) or have ever used the prevention method (fullyadjPR=6.07, 95%CI 4.10, 8.98) than those from non-fishing communities.

Conclusion:

In this cross-sectional study of AYA in Uganda, awareness of PrEP was common but ever-use was rare, even among the third of respondents who were likely PrEP-eligible. This suggests that prevention policies and barriers besides unawareness of the method impede PrEP initiation. Efforts that target those barriers, particularly for adolescents, are critical for reducing HIV incidence among this priority population.
HIV risk perception and PrEP uptake among pregnant women offered PrEP during antenatal care in Kenya
Authors: Marwa Mary. M. , Larsen Anna , Abuna Felix , Dettinger Julia , Odhiambo Ben , Watoyi Salphine , Omondi Pascal , Ngumbau Nancy , Gómez Laurén , John-Stewart Grace , Kinuthia John , Pintye Jillian
Published: January 2025

Background:

Self-perceived HIV risk influences PrEP use, though few data on risk perception are available among pregnant women. We evaluated HIV risk perception and PrEP uptake among pregnant women in Kenya.

Methods:

We utilized data from a randomized trial evaluating universal versus risk-based PrEP delivery models at 20 antenatal clinics in Kenya (NCT03070600). Pregnant women enrolled were offered PrEP at any gestational age. A validated risk score for predicting HIV acquisition among perinatal women defined high HIV risk. HIV risk perception was assessed by asking “What is your gut feeling about how likely you are to get infected with HIV?” without a specified timeframe and dichotomized as low (“extremely/very unlikely”) versus high (“extremely/ Somewhat likely/very likely”). All women in the universal PrEP offer arm were included in the analysis.

Results:

Among 2250 pregnant women the median age was 24 years (IQR 21–28), 81% were married, and 22% did not know their partner’s HIV status. Overall, 27% of women had high HIV risk scores of whom 61% self-perceived high risk. Among women with high HIV risk scores (n=617), 69% declined PrEP; those who self-perceived low risk were more likely to decline than those with high risk perception (82% vs. 60%, aPR=1.35, 95% CI 1.17-1.55, p<0.001). Declining PrEP was associated with later gestational age at PrEP offer and with monogamous marriage among women with high HIV risk scores (p<0.05).

Conclusion:

Declining PrEP was common among pregnant women with high HIV risk, especially those who self-perceived low HIV risk. Refining risk perception may encourage PrEP uptake.
International Medical Graduates in Academic Cardiothoracic Surgery
Authors: Bajaj Simar S. , Wang Hanjay , Williams Kiah M. , Boyd Jack H.
Published: January 2025

Objective:

To assess the research productivity, career advancement, grant funding, and scholarly impact of international medical graduates (IMGs) in academic cardiothoracic surgery.

Summary Background Data:

Physician shortages undermine patient care and risk exacerbating inequities, especially in cardiothoracic surgery, which may lose a quarter of its workforce by 2050—the most substantial reduction in surgery. IMGs could help alleviate these shortages, but there is limited data about their academic experiences.

Methods:

All cardiothoracic surgeons (n=1065) at accredited United States cardiothoracic surgery training centers in 2020 were included. IMGs were defined as surgeons who completed medical school outside the US and Canada, per the Association of American Medical Colleges. Educational and professional backgrounds were recorded from publicly available sources.

Results:

24.0% of academic cardiothoracic surgeons were IMGs. These surgeons started as attendings in later years (2012 vs. 2005, P<0.001) than non-IMGs. In unadjusted analyses, IMGs had lower publication counts and H-index, as well as reduced likelihood of R01 funding and full professor attainment. To match for attending start year, propensity score analysis created two groups of 254 surgeons: both IMGs and non-IMGs had similar publication counts (45.0 vs. 45.0, P=0.98), H-index (10.5 vs. 11.0, P=0.61), R01 funding rates (4.3% vs. 5.1%, P=0.83), and full professor attainment (24.8% vs. 20.5%, P=0.45).

Conclusions:

IMGs represent a more junior cohort of surgeons but contribute significantly to the cardiothoracic surgery workforce, with comparable academic success. Policy efforts to streamline IMGs’ path toward US practice could help alleviate surgical shortages, while enhancing diversity and strengthening academia.
Medication management: supportive care medications in older adults with cancer
Authors: Walsh Darren J. , Herledan Chloé
Published: January 2025

Purpose of review

This review raises awareness regarding the lack of data available for healthcare professionals caring for older adults with cancer when using supportive care medications.

Recent findings

Guidelines for supportive cancer care lack concrete recommendations on the appropriate use of medications in older adults with cancer. Some guidelines, such as the National Comprehensive Cancer Network Older Adult Oncology guideline, contain vital information for prescribers to consider when choosing a supportive care medication. Information at present in most guidelines is generally vague, identifying areas where caution is required in older adults, without specific details.

Research is needed to assess the efficacy and safety of supportive cancer care medications in older adults.
Prediction of Enzyme function using interpretable optimized Ensemble learning framework
Authors: Dhibar Saikat , Basak Sumon , Jana Biman
Published: January 2025

Accurate prediction of enzyme function, particularly for newly discovered uncharacterized sequences, is immensely important for modern biology research. Recently machine learning (ML) based methods have shown promises. However, such tools often suffer from complexity in feature extraction, interpretability, and generalization ability. Here we present an interpretable ML method, SOLVE that addresses these issues by using only combination of tokenized subsequences from the protein’s primary sequence for classification. Its optimized ensemble learning framework improves prediction accuracy, distinguishes enzymes from non-enzymes, and predicts enzyme commission (EC) numbers for mono- and multi-functional enzymes. Additionally, SOLVE provides interpretability through Shapley analyses, identifying functional motifs at catalytic and allosteric sites of enzymes. By focusing only on primary sequence data, SOLVE simplifies high-throughput enzyme function prediction for functionally uncharacterized sequences and outperforms existing tools. With high prediction accuracy and its identification ability of functional regions, SOLVE can become a promising tool in different fields of biology and therapeutic drug design.