bluuebunny/crossref_metadata_2025 huggingface dataset:
A Study on the Effect of Rice Husk Charcoal Mix on Coal Briquettes Using the Carbonization Method with Tapioca Flour Adhesive
Authors: Fachruzzaki  , Lestari Rina , Aminah Siti
Published: February 2025

There are many coal mining companies in Tanah Bumbu Regency, South Kalimantan. The residue of the processing and testing of coal is mostly left by the company so that it is just wasted. This coal can be used to make briquettes. However, coal briquettes are often difficult to ignite and produce a lot of ash. Mixing residual coal with rice husks is desirable because it can improve its characteristics. Rice husks are found in this area because apart from industrial areas, there are also large agricultural areas. Furthermore, rice husks and coal residues are not widely used although it can be used to produce alternative energy fuels. The research method used is experimental quantitative. Coal is pulverized to 18 mesh. Rice husk is carbonized to obtain husk charcoal which is then used as a coal mixing material in making briquettes with tapioca flour adhesive. The results showed that BT-01 briquettes with a composition of 75% coal and 25% husks had the highest heating value 5194 cal/g and longer burning time was 28 minutes, ash content was 17.08%, and inherent moisture was 7.11%. The results of this study are applicable for further use for households and medium-sized industries.
Real Options Analysis of a Coal Mining Project
Authors: Amalia Rizki , Rini Novrianti Sutardjo T. , Virtanti Anas Aryanti , Baharuddin Andhika , Febri Saputra T , Shafira Tasyah
Published: February 2025

In 2021, PT ABC planned to open a new pit, namely Pit XYZ. Currently, PT ABC uses the Discounted Cash Flow method to determine the economic feasibility of Pit XYZ. However, this method does not accommodate changes in coal commodity prices which fluctuate over time. A real options (RO) analysis was performed in this study to obtain the value of the option to abandon the Pit XYZ project plan of PT ABC. This study used NPV parameters as the underlying asset, with an NPV value of US $105,126,304.47, coal price volatility of 30.60%, a risk-free rate of 3.42%, and a mine life of 5 years. The results of the RO analysis show an Expanded NPV of US $105,126,313.05, which exceeds the value of the DCF analysis results. Therefore, PT ABC is advised to carry out the project as planned. However, upon the occurrence of a significant economic downturn, where the project value drops to US $6,031,721.79, it would be best for the company to halt the opening of Pit XYZ.
Characterizing the Leaching Behavior of Red Mud at Different pH Levels
Authors: Kurniawati Riskaviana , Dahani Wiwik , Subandrio Subandrio , Palit Christin , Kisal Albrian Gheraldy S
Published: February 2025

Red mud is classified as hazardous waste due to its high alkalinity and the presence of radioactive materials. This study aims to investigate the leaching properties of major metals and rare earth elements in red mud at pH levels of 2, 7, and 13. We performed XRD, XRF, and ICP analyses to determine the effect of pH on metal leaching in red mud. The findings revealed that the pH of the solution substantially affected the concentration of dissolved metals. Metal dissolution increases dramatically at an acidic pH (pH 2), but metal concentration drops quickly at a neutral pH (pH 7). At alkaline pH (pH 13), Al dissolves significantly, whereas Fe remains reasonably stable. These findings indicate that the red mud processing industry can utilize pH modulation to enhance the leaching effectiveness of specific metals, a crucial step towards developing more efficient and environmentally friendly purification procedures.
Estimating the Porosity and Initial Water Saturation in South Structure of X Field Using Artificial Neural Network
Authors: Sutiadi Andrian , Taufiq Fathaddin Muhammad
Published: February 2025

Determining the location of development wells requires rock and fluid data by carrying out petrophysical correlation between existing wells. That is done to estimate the potential of future wells or newly drilled wells. In this study, the porosity and saturation distribution of formations nearby CS-01 well with coordinates X = 722861.58 and Y = 9300235.29 at depths between 5377.5 ft to 6399.5 ft was estimated by applying an artificial neural network model (ANN). The ANN model was developed using data from three wells in X field. The data used includes measured depth, gamma ray, resistivity log, neutron log, density log as input parameters. Based on the results obtained correlation coefficients for training, validation, and testing processes for sequential porosity prediction are 0.9278, 0.9147, and 0.9303. Meanwhile, correlations for training processes, validations, and tests for initial water saturation prediction in sequence are 0.8787, 0.9162, and 0.8220. The implementation of ANN model shows prediction of porosity and initial water saturation in average of 0.24 and 0.49 respectively.
Identification of Alteration Zones Based on Satellite Images and Vegetation Response for Geothermal Exploration in Volcanic Fields
Authors: Eka Rahmidiani Wina , Saepuloh Asep , Kriswati Estu
Published: February 2025

Several studies have also shown that direct evidence of geothermal manifestation presented by surface features, such as hot springs, steam vents, and fumaroles is often detected by remote sensing method. In this context, the appropriate remote sensing method can support the early exploration stages to assess wide coverage areas rapidly. Therefore, this study aims to characterize geothermal features based on a combination of remote sensing method and field measurements at Mts. Tangkuban Parahu, Kamojang-Guntur (West Java), and Ijen (East Java). Data were obtained from Sentinel-1A and 2B images, DEMNAS, and chlorophyll content of ferns. The selected remote sensing method was modified Segment Tracing Algorithm (mSTA), band ratio, and red edge vegetation index (REVI). mSTA was used to estimate fracture permeability, which served as hydrothermal fluid paths to the surface and changed rock minerals into soil affecting plant physiological conditions. Band ratio and REVI were used to identify alteration zones and vegetation stress, respectively. The results showed that the stressed vegetation due to soil contamination of hydrothermal fluid could serve as an indirect indicator of geothermal system. The results revealed that lineament density at selected study areas was due to the low chlorophyll content and high ground temperatures. Based on Sentinel-2B images, alteration zones were identified by R, G, and B color composite for bands ratio 4/2, 11/12, and 8, with pinkish hues. After the images enhancement process, color indicating alteration became more prominent than the original composite. The measured chlorophyll contents of the ferns confirmed that the vegetation above alteration zones was under stressed conditions, as indicated by chlorophyll content of less than 25 SPAD.
Sucker Rod Pump Re-Design to Enhance the Oil Production Rate at PT Pertamina Hulu Rokan
Authors: Sasanti Nirmala Gerry , Untoro Edi , Oratmangun Mickhael , Arison Haratua Yesaya
Published: February 2025

Sucker Rod Pump (SRP) is one artificial lift with a relatively simple design and easy to operate in oil wells. In this paper, a study is carried out regarding the efficiency of SRP of two wells with different completions, a directional and a vertical well. Both wells had a decreased production rate, and the analysis showed that the wells had a low productivity index. However, the production of wells is still expected in the future. Both wells use SRP with the same pump type named Thomassen C-730CE-200-74. The decrease in oil production is suspected to be caused by the reduction of pump efficiency, and analysis showed that the pump efficiency in directional and vertical wells was 40% and 39% respectively. Sensitivity analysis regarding the change in the stroke length and pump speed is discussed, producing the best combination of a stroke length of 54 inches with a pump speed of 5 spm. It increased efficiency by up to 87% in directional wells, and up to 79 % in vertical wells.
Analysis Of Result Pressure Build Up Test Before And After Acidizing In Gas Well Ya-01
Authors: Ristawati Arinda , Ginting Mulia , Ghina Kaynes Jasmine , Ridaliani Prapansya Onnie , Karyadi Oetomo R. Hari , Wijayanti Puri , Sultan Matheus Sahuleka Michael
Published: February 2025

The YA-01 production well is a well that has decreased production. The decrease in the amount of production can be caused by continuous production activities or it can also be caused by formation damage. One way to overcome formation damage is by acidizing. The success of acidizing can be shown based on the analysis of the Pressure Build Up Test. Based on the analysis of the Pressure Build Up test, it can be obtained reservoir characteristics such as skin factor (s), permeability (k), permeability thickness (kh), initial reservoir pressure, reservoir model, well model, boundary model, and wellbore storage model. From the results of these parameters can be used to determine the success of acidizing. Pressure Build Up testing is done by using the Horner method with Pseudo-Pressure Approach and assisted by software. This test was carried out based on activities before and after acidizing. Based on the analysis before acidizing, it is known that the YA-01 gas well has a skin value of 10.4, which means that there is formation damage around the wellbore. Therefore, the YA-01 gas well is acidized with the aim of reducing the skin value. After acidizing, the skin factor value decreased to - 1.38, which means the well has been repaired. Based on the results of this analysis, it can be said that the acidizing in well YA-01 was successfully carried out.
Identification of Buffer Zone Based on Consequence Analysis in H2S Removal Unit
Authors: Ramadhani Pratama Putra Restu , Sulistiyo Nugroho Budi , Furqon Zami , Indah Mandaka Aprilia , Lestari Kulaleen Genoveva , Kurniawan Adhi
Published: February 2025

The oil and gas industry has high risks, especially related to process accidents such as gas releases, fires, and explosions. The consequences of these accidents can include death, injury, environmental damage, property damage, loss of company reputation, and financial loss. The H2S removal unit is one that has a high potential for process accidents. Therefore, prevention and mitigation measures, such as the implementation of buffer zones, are needed to improve safety. The purpose of this study is to identify buffer zones based on the consequence analysis of gas release, fire, and explosion in the H2S removal unit and establish areas that are considered safe from the hazards of gas release, fire, and explosion. This research uses the buffer zone identification method by reviewing the risks in the H2S removal unit, identifying the most likely and fatal accident scenarios, and analyzing the consequences of gas release, fire, and explosion using Shell FRED software. The variables of this study include independent variables in the form of actual operating conditions and feed composition data on the H2S removal unit and meteorological data. The dependent variable is the radius or range of the buffer zone. This analysis resulted in the identification of four hazard zones based on consequences: red zone for gas release (H2S dispersion), orange zone for explosion (vapor cloud explosion), yellow zone for flash fire, and green zone for jet fire. The buffer zone for gas release (H2S dispersion) is above 17.1 m, for explosion (vapor cloud explosion) above 17.8 m, for flash fire above 40.84 m, and jet fire above 60.79 m. The establishment of this buffer zone is expected to be a hazard mitigation when there is a gas release, fire, and explosion in the H2S removal unit.
SILAR as an effective photocatalyst synthesis method for performance improvement in hydrogen recovery on water splitting process: a brief review
Authors: Pratiwi R , Chusniyah D A , Yanti Widia , Fadliah
Published: February 2025

Photocatalysis is now being extensively researched as a viable alternative to the process of generating hydrogen gas. The Sequential Ionic Layer Adsorption Reaction (SILAR in relation to synth) is a relatively simple photocatalyst film synthesis method, which can be performed at room temperature and atmospheric pressure. Therefore, the study of photocatalysis development esis methods using SILAR is highly intriguing. This review will discuss the mechanism of nanocomposite formation, the characteristics, drawbacks and advantages of the SILAR method, as well as the factors that influence its application in photocatalysis processes, particularly in the effort to obtain hydrogen gas through water splitting reactions. The writing of this brief review on the SILAR method is expected to provide an overview of the aspects that need to be developed or improved in the synthesis process, particularly in studies on the synthesis of photocatalyst layers for water splitting reactions. Thus, future research will be more focused and deliver results that impact the overall performance of photocatalysis, especially in terms of hydrogen gas production as an alternative energy source.
Nerve Growth Factor Signaling Tunes Axon Maintenance Protein Abundance and Kinetics of Wallerian Degeneration
Authors: Danos Joseph A. , Addemir Merve , McGettigan Lily , Summers Daniel W.
Published: February 2025

Neurotrophic factors are critical for establishing functional connectivity in the nervous system and sustaining neuronal survival through adulthood. As the first neurotrophic factor purified, nerve growth factor (NGF) is extensively studied for its prolific role in axon outgrowth, pruning, and survival. Applying NGF to diseased neuronal tissue is an exciting therapeutic option and understanding how NGF regulates local axon susceptibility to pathological degeneration is critical for exploiting its full potential. Our study identifies surprising connections between NGF signaling and proteostasis of axon maintenance factors. NGF deprivation increases Nmnat2 and Stmn2 protein levels in axon segments with a corresponding delay in Wallerian degeneration. Conversely, acute NGF stimulation reduces local abundance of these axon maintenance factors and accelerates Wallerian degeneration. Pharmacological studies implicate phospholipase C as the key effector in TrkA activation, which drives degradation of palmitoylated Stmn2. While seemingly opposed to neuroprotective activities well-documented for NGF, downregulating Nmnat2 and Stmn2 favors axonal outgrowth over transient hyper-susceptibility to Sarm1-dependent degeneration. This new facet of NGF biology has important implications for axonal remodeling during development and sustained integrity through adulthood.
Virtues of Willpower and Self-Possession
Authors: Roberts Robert C , West Ryan
Published: February 2025

This chapter argues that the virtues of willpower (courage, self-control, patience, perseverance, etc.) put the self in possession of itself, and, since to be a self is (in part) to be in possession of oneself, are important in the very constitution of the self. The virtues of willpower are impulse-resisting personal strengths, excellent traits that enable their possessor to do work on his or her self. To be a self is (in part) to be an agent; to be an agent is to be an origin of one’s actions; and the power that enables such origination is choice. The person with the virtues of willpower exercises choice over the very self she is and thereby is an agent/origin/creator/owner of that self. In saying that humans have a role in creating themselves, we do not deny that we have been made by Another who has established the conditions of selfhood and to whom we are subject.
Hope and Resilience
Authors: Snow Nancy E
Published: February 2025

Intuitively, it seems that having hope and being resilient are related. But how? This chapter views hope as a general disposition that either entails or produces mental states that can be described, at their most basic, as belief-desire complexes consisting of the desire that a certain outcome or state of affairs obtain, and the belief that it is possible. Most theories of hope go beyond the belief-desire model to include other elements, and the chapter follows suit. Vices contrasting with the virtue of hope include despair, fear, cynicism, and presumption. Thus, hope can be seen as an intermediate state between such states as despair, fear, and cynicism, on the one hand, and presumption, on the other. The chapter views resilience as an emergent property that supervenes on internal and external factors and enables its possessor to cope with or overcome adversity. Moller (2007) identifies two mental states that he calls “sub-resilient”—not being resilient enough or lacking in resilience, and “super-resilient”—being too resilient or having too much resilience. Similarly to hope, resilience can be situated as an intermediate between sub- and super-resilience. This chapter compares the mental state of hope and its associated nonhope mental states with resilience and nonresilient mental states, fleshing out all of these states in the process. This exercise in comparative moral psychology will show that the same vices attend hope and resilience. However, though hope can contribute to resilience and vice versa, a more precise relation between the two remains elusive.
Patience, Perseverance, and Goal Pursuit
Authors: Ratchford Juliette L , Pawl Timothy , Schnitker Sarah A
Published: February 2025

Aquinas distinguished among four types of virtuous endurance relevant to goal pursuit: perseverance in the relation to difficulties intrinsic to the goal itself, constancy in relation to difficulties extrinsic to the goal, patience in the current suffering caused by undergoing something difficult, and longsuffering in waiting for the goal to be completed. This chapter compares Aquinas’s distinctions to current psychological constructs and research related to grit, initiatory self-control, resilience, and patience, with an emphasis on psychological literature indicating how these virtues affect goal pursuit. Future directions for interdisciplinary hypothesis testing are described, with cautions for both psychologists and philosophers to avoid both jingle and jangle fallacies through careful definitions and rigorous empirical analysis.
Hold the Line!
Authors: Harms Peter D , Lester Paul B , Smith Daniel R
Published: February 2025

Endurance is a critical capacity required to address the endemic stressors of life and meet important goals. Therefore, it is unsurprising that it is one of the aspects of character most closely identified with successful functioning and recovery from negative events in military settings, for both military personnel and civilians. Further, endurance is necessary regardless of whether individuals are engaged in active combat, extended deployments, relief missions, or peacekeeping activities. This chapter reviews the nature of endurance and why it has mattered in military settings. It then reviews how modern militaries work to foster endurance in their ranks, at both an individual and unit levels. The chapter briefly reviews how military organizations conceptualize and assess individual-level endurance in addition to summarizing prior research linking endurance-related characteristics to both positive and negative outcomes. Finally, it provides suggestions for future research needed concerning the assessment, development, and importance of endurance in the military.
Perseverance in the Polity and the Person
Authors: Clark Sherman J
Published: February 2025

This chapter argues that we can illuminate perseverance much as Socrates illuminated justice—by thinking about how it might manifest itself or be nurtured at the level of the polity through law, legal procedure politics, political rhetoric, and the like. Because the mind, as illuminated by modern psychology and neuroscience, is not best understood as a unitary ghost in the machine but rather as a tenuous collection of thinking machines, individual character traits can sometimes be illuminated by thinking about how they manifest themselves in the larger tenuous collection of thinking machines that is the polity. The virtue of perseverance proves particularly amenable to this city-soul analysis, which calls our attention to the role played by that virtue in facilitating engagement with and continuity in projects that can provide a basis for identity and meaning. Various forms of legal and political perseverance—doctrinal, procedural, and rhetorical—help give a polity a shared sense of identity and purpose. Similarly, individual perseverance can help us each build a coherent and meaningful sense of self. It can allow us to stick with projects not just in the face of difficulty but also, and more essentially, in the face of abstract, identity-effacing rationality. Seen in this light, perseverance does not just help us do what we do; it helps us be who we are. It helps us find and make the meaning so vital to human happiness and thriving.
Structural Inequities in Brain Trauma Outcome Prevalences Reported in the All of Us Database
Authors: Wroblewski Tadeusz H , Ononogbu-Uche Favour , Jagtiani Pemla , Roberts Marie-Claire , Bigdeli Tim B , Barthélemy Ernest J
Published: February 2025

Traumatic brain injury (TBI) is a major public health concern affecting millions of people yearly. Disparities in TBI outcomes based on social determinants of health (SDoH), such as race and socioeconomic position, highlight the need to explore the causative structural inequities. We employed a socio-epidemiological approach, with particular focus on the putative role of structural racism, to investigate the prevalence, sociodemographic patterns, and neuropsychiatric outcomes of TBI in the All of Us database. This study included 11,286 individuals with a documented TBI diagnosis, determined based on a curated phenotype definition using the International Statistical Classification of Diseases Clinical Modification criteria. Outcome measures included TBI prevalence and sociodemographic distribution; TBI severity; and neuropsychiatric diagnoses related to TBI. Nearly equivalent TBI prevalences were observed across racial categories. Black participants with TBI had higher socioeconomic deprivation indices and higher prevalence of certain neuropsychiatric conditions, such as substance use disorders and headache disorders, compared to White participants. This study underscores the importance of considering SDoH, particularly race and socioeconomic position, in TBI research. These findings highlight the need for efforts to address structural inequities that impact disparities in TBI and call for future research investigating how healthcare practices relate to disparities in TBI outcomes.
Measuring Medical Student Scholarly Activity After a Structured Plastic Surgery Research Fellowship: A Bibliometric Analysis
Authors: Panton Jasmine A , Thota Bhavana , Culver Abby J , Kenkel Jeffrey M
Published: February 2025

Background

Plastic surgery is consistently one of the most competitive medical specialties in the NRMP match, with students often partaking in dedicated research fellowships to bolster their applications.

Objectives

The purpose of this study was to quantify the academic productivity of medical students completing a structured plastic surgery research fellowship at a single academic center over a seven-year period.

Methods

The bibliometric output of 26 medical student research fellows was analyzed. Eligible scholarly activities for analysis included peer-reviewed articles, books and book chapters, and video editorials published in the field of plastic surgery and indexed between July 1st of the fellowship and September 1, 2023. Cross-verified citation lists were generated for each author and h-index, publication number, number of citing articles, sum of times cited, author position, and journal or book title were recorded.

Results

24 of 26 research fellows have published a total of 177 scholarly activities (93.22% articles) which have been cited in approximately 322 articles. Mean publications per fellow was 6.69 and mean h-index is 1.46. Analysis excluding the 2022-2023 cohort revealed a strong positive correlation between years since beginning research fellowship and both mean h-index (r = .84, P < .001) and mean number of publications per year (r = .81, P <.001).

Conclusions

Structured research fellowships can serve as a springboard for medical students to increase research output and engage meaningfully with academia. Our study suggests that publications in peer-reviewed journals continue to increase following participation in a structured plastic surgery research fellowship.
Using 18F-FDG PET/CT to Predict PD-L1 Expression in NSCLC via Metabolic Tumor Heterogeneity
Authors: Chang Ruxi , Luo Liang , Shen Cong , Zhang Weishan , Duan Xiaoyi
Published: February 2025

Objectives

The purpose of this study is to evaluate the effectiveness of using F-18 FDG PET/CT metabolic heterogeneity to assess the PD-L1 expression in primary tumors.

Methods

Data from 103 NSCLC patients undergoing F-18 FDG PET/CT was collected. PD-L1 expression was verified via biopsy or surgical specimens. The coefficient of variation (COV) assessed metabolic heterogeneity of the primary tumor. ROC curves evaluated the predictive potential of metabolic metrics and defined thresholds. Logistic regression examined predictors of PD-L1 expression.

Results

The study included 103 patients (mean age: 63.65 ± 9.28 years), of whom 60 were male. 64 patients were PD-L1 expression positive, while 39 were negative. COV was significantly higher in the PD-L1 positive group (Z = -2.529, P = 0.011),while no significant differences noted in otherparameters between the groups (P > 0.05 for all). The optimal cutoff value was proposed as 28.9, with sensitivity and specificity of 46.9% (34.3%-59.8%)and 82.1%(66.5%-92.5%), respectively (AUC: 0.649(0.549, 0.741)) whichcan more effectively identify PD-L1 negative patients. Other metabolic parameters are less effective than COV.(AUV < 0.6). In addition, COV-defined metabolic heterogeneity outperformed other metabolic parameters in predicting PD-L1 expression (p = 0.049) and emerged as an independent predictor.

Conclusion

Metabolic heterogeneity, described by the COV of the primary lesion, is a marker for predicting PD-L1 expression in NSCLC patients. Therefore, the COV of the primary tumor may complement conventional imaging in providing immunohistochemical information before biopsy.

Advances in knowledge

COV of the primary tumor can predict PD-L1 expression, potentially complementing conventional imaging for immunohistochemical information prior to biopsy.
Coronary angiography with photon-counting detector CT –New options and some critical decisions
Authors: Mergen Victor , Eberhard Matthias , Alkadhi Hatem
Published: February 2025

The advent of photon-counting detector CT brought up various new interesting possibilities for coronary imaging including different scan modes and various post-processing options. The two main scan modes include spectral data acquisition with inherent energy-resolved imaging and ultra-high-resolution scanning with unprecedented high spatial resolution, both at the highest available temporal resolution. Post-processing options include the generation of virtual monoenergetic images at different levels and the generation of virtual non-calcium images. Many early studies indicated the potential of each of these options for coronary CT angiography but also show that much more work is needed to clarify the optimal scan mode for each individual patient and clinical setting.
Fossil Astropanax Seem. (Araliaceae) from the early Miocene (21.73 Mya) Mush Valley plant assemblages of Ethiopia
Authors: Pan Aaron D , Jacobs Bonnie F , Currano Ellen D , Gostel Morgan R , Lowry Porter P , Plunkett Gregory M , Hoffmann Julia , Geier Christian , Grímsson Friðgeir
Published: February 2025

Astropanax is a monophyletic genus found in the Africa–Madagascar–Seychelles region whose evolutionary and biogeographic history, and that of related Araliaceae genera, are poorly known. In this paper, we report the presence of Astropanax leaves and pollen in Ethiopia 21.73 million years ago from the Mush Valley locality, which preserves leaf material with cuticles, fruits, seeds, woods, and less common biota including insects. Astropanax was part of a moist tropical forest community surrounding a volcanic crater lake and dominated by a single legume taxon (Englerodendron mulugetanum). Forty-nine leaf morphotypes have been documented at Mush and, along with Astropanax, identified taxa all have living relatives mainly confined to west, central, and east African forests. The plant genera found together at Mush include groups limited today to both lowlands (e.g. the swamp palm, Sclerosperma), and uplands (e.g. Hagenia). Astropanax species are most often found today in the uplands. Subsequent to the early Miocene, some genera present at Mush may have diverged into lineages that comprise the highland and lowland forest species known today. Araliaceae fossils are known from Paleogene localities primarily across the northern continents; the occurrence of Astropanax in the early Miocene of Ethiopia appears to represent the earliest definitive occurrence of Araliaceae on the African continent.
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
Authors: Malaichamy Sivasankar , Idoux Romane , Polavarapu Kiran , Šikić Katarina , Holla Elisa , Thompson Rachel , Spendiff Sally , Schänzer Anne , Kusters Benno , Freeman Emily , Hentschel Andreas , O’Neil Daniel , Carmona-Martinez Ricardo , Dobelmann Vera , Tucht Calvin , Schouten Meyke , Ruck Tobias , Schara-Schmidt Ulrike , Kamsteeg Erik-Jan , Ramadža Danijela Petković , Jakovčević Antonia , Zigman Tamara , Čavka Mislav , Karcagi Veronika , Herczegfalvi Agnes , Laurie Steven , Matalonga Leslie , Beltran Sergi , Horvath Rita , Voermans Nicol , Roos Andreas , Barić Ivo , Lochmüller Hanns
Published: February 2025

Rhabdomyolysis is an acute failure of cellular homeostasis resulting in muscle breakdown, triggered by trauma, infection, drugs, or strenuous exercise. Recurrent rhabdomyolysis is often associated with genetic and metabolic defects of skeletal muscle. The sarcoendoplasmic reticulum Ca2+-ATPase 2 (SERCA2), encoded by the ATP2A2 gene, is an intracellular pump located in the sarcoplasmic and endoplasmic reticulum that is essential for maintaining intracellular calcium (Ca2+) homeostasis and is highly expressed in slow-twitch muscle. Heterozygous loss-of-function variants in ATP2A2 have previously been associated with dominant skin diseases, but not with rhabdomyolysis.

In this study, we report a rare novel heterozygous missense variant in the ATP2A2 gene (c.1583G>A, p.R528Q) identified in 14 affected individuals from three unrelated families with recurrent rhabdomyolysis. Muscle biopsy revealed mild myopathic changes with fiber type uniformity, core-like structures, and Z-band streaming, but normal levels of SERCA2 protein. Ca2+ imaging showed that SR/ER Ca2+ reuptake mediated by SERCA2 was significantly slower in myotubes derived from patient fibroblasts carrying the c.1583G>A variant. We hypothesize that the ATP2A2 variant impairs SERCA2a function in slow-twitch muscle, disrupting SR Ca²⁺ reuptake and causing cytosolic Ca²⁺ overload following a trigger, leading to recurrent rhabdomyolysis. Morphant zebrafish embryos with atp2a2a knockdown showed morphological and functional muscle abnormalities with a reduction in body length and trunk muscle area associated with a reduction in locomotor activity in zebrafish larvae. Coinjection of wild-type human SERCA2a mRNA, but not variant SERCA2a mRNA, resulted in complete rescue of the phenotype.

This study reveals a novel association between a heterozygous ATP2A2 variant and autosomal dominant recurrent rhabdomyolysis. Both in vitro and in vivo studies provide evidence that the variant alters SERCA2 function causing abnormal intracellular Ca2+ homeostasis in skeletal muscle, resulting in rhabdomyolysis. The work not only increases understanding of autosomal dominant rhabdomyolysis but also provides a diagnostic conclusion for three generations of affected individuals across the three families.
Nanostructure and local dynamics of 1-alkyl-3-methylimidazolium alkylsulfonates
Authors: Endo Takatsugu , Sumida Hiroki , Nakamura Takumi , Sugihara Hiroaki , Kimura Yoshifumi
Published: February 2025

X-ray scattering and 13C spin-lattice relaxation time (T1) measurements were performed for three ionic liquids (ILs): 1-methyl-3-octylimidazolium ethanesulfonate ([C8mim][C2SO3]), 1-methyl-3-pentylimidazolium pentanesulfonate ([C5mim][C5SO3]), and 1-ethyl-3-methylimidazolium octanesulfonate ([C2mim][C8SO3]). Although these imidazolium sulfonates have the same total carbon number in the alkyl chains, their nanoscale structure and picosecond local dynamics differ significantly. The position of the X-ray scattering peak that corresponds to the heterogeneous structure (i.e., polar/non-polar phase separation at the nanoscale) of the ILs followed the trend: [C5mim][C5SO3] > [C8mim][C2SO3] > [C2mim][C8SO3]. Additionally, the peak width for [C2mim][C8SO3] is the narrowest. These results indicate that [C2mim][C8SO3] exhibits the most developed heterogeneous structure. Results from density functional theory calculations strongly suggest that the high hydrophobicity of the alkyl chain in the anion induces the well-developed heterogeneous structure. T1 measurements revealed that the anions exhibited faster local dynamics than the cations with the same alkyl chain length. The polar part of the anion (SO3−) rotates faster than that of the cation (imidazolium ring), likely due to the high rotational constants and sphere-like shape of SO3−. In contrast, the facile rotation of the non-polar (alkyl) part of the anion appears to stem from its highly hydrophobic environment.
Functional gradient of the fusiform gyrus and its underlying molecular basis
Authors: Chen Jingyao , Liu Siyu , Shen Yuhao , Cai Huanhuan , Zhao Wenming , Yu Yongqiang , Zhu Jiajia
Published: February 2025

Evidence has evinced the functional complexity, anatomical heterogeneity, connectivity diversity, and clinical relevance of the fusiform gyrus. We aimed to investigate the hierarchical organization of the fusiform gyrus and its underlying molecular basis. Resting-state functional MRI data of 793 healthy subjects were collected from a discovery dataset and two independent cross-scanner, cross-race validation datasets. Functional gradients of the fusiform gyrus were calculated based on the voxel-wise fusiform gyrus-to-cerebrum functional connectivity to reflect its functional organization. Transcription-neuroimaging spatial correlation analysis was performed to determine genes with expression levels tracking the fusiform gyrus functional gradient. The dominant functional gradient that explained the greatest connectivity variance showed an anterior–posterior axis across the fusiform gyrus. More important, there was a strong association between the fusiform gyrus–dominant gradient and gene expression profiles, with two gene sets contributing significantly to this association yet differing in their specific expression and functional annotation. In addition, the fusiform gyrus–dominant gradient was linked closely to intrinsic geometry, slightly to cortical morphology, and gradually to behavioral domains from high-level cognitive processes to low-level sensory functions. Our findings add to the extant knowledge regarding the topographic organization of the fusiform gyrus by informing a novel conceptualization of how functional heterogeneity and multiplicity co-occur within the fusiform gyrus.
Complete Radiation-free, Transthoracic Echocardiography-guided, Leadless Pacemaker Implantation: A case-report
Authors: Hua Wei , Huang Hao , Chen Xuhua , Pan Xiangbin
Published: February 2025

We described a patient opted for Micra™ leadless pacemaker implantation, which was successfully guided by transthoracic echocardiography (TTE) without use of fluoroscopy during the whole procedure. Chest X-ray on the second day confirmed an appropriate fixation, and the device parameters remained stable in 3-month follow-up.
Intracardiac Flow Dynamics in Mitral Regurgitation: State of the Art
Authors: Serio Lorenzo , Beccari Riccardo , Nistri Stefano , Cecchetto Antonella , Pedrizzetti Gianni , Mele Donato
Published: February 2025

Intracardiac flow dynamics is a complex phenomenon interrelated with cardiac mechanics. Today, it can be evaluated non-invasively using various imaging modalities, including echocardiography, magnetic resonance imaging, and computed tomography. This review explores the effects of mitral regurgitation on blood flow dynamics inside the left ventricular and atrial cavities and emphasizes the disruption of normal flow dynamics caused by mitral regurgitation, leading to turbulent flow and increased energy dissipation. It further examines the consequences of mitral valve repair and replacement, noting that, while repair generally improves intracardiac flow dynamics compared to replacement, residual flow disturbances may persist. Finally, the implications of abnormal intracardiac vorticity on left ventricular wall stress, myocardial remodeling, and thromboembolic risk are discussed.
Mind the gap: the interplay between genes and neighbourhood context on educational achievement
Authors: Silva Laura , Tropf Felix C , Wolfram Tobias
Published: February 2025

This article expands on previous research on gene-environment (GxE) effects on socio-economic status, by stepping beyond the family dimension and exploring how the neighbourhood context interacts with education linked genes in influencing educational achievement. While some evidence suggests that genetic links to education are more fully expressed in high socio-economic status families, other findings indicate that individuals with lower genetic predisposition for education benefit more from high socio-economic contexts. We argue that the neighbourhood environment may also play a role on the relationship between genes and education-related outcomes. We find evidence that living in socioeconomically advantaged neighbourhoods contributes to closing the gap between individuals characterized by high and low genetic predispositions towards educational achievement, with this effect primarily driven by influences on academic motivation, rather than cognitive skills. These findings emphasize that environmental contexts can shape the unfolding of genetic endowment and point to an important role of the neighbourhood in compensating for pre-existing disadvantage, thus contributing to improve chances of upward social mobility and to limit the reproduction of social inequalities in education over time.
Translation of genomics into routine cardiological practice: insights from a European Society of Cardiology Cardiovascular Round Table
Authors: Dimmeler Stefanie , Ferri Leticia , Nioi Paul , O’Donnell Christopher J , Damy Thibaud , Gómez-Outes Antonio , Giacca Mauro , Guo Weinong , Kavousi Maryam , Kupatt Christian , Landmesser Ulf , Schunkert Heribert , Zouridakis Emmanouil , Elliott Perry M
Published: February 2025

Cardiovascular diseases (CVD) remain the leading cause of death globally and there is an urgent need for innovative approaches to treatment. One emerging avenue is genetic therapies, which hold particular promise for diseases with a monogenic basis. Gene silencing techniques using antisense oligonucleotides or ribonucleic acid interference strategies are currently at the forefront of genetic therapies in CVD, with several ribonucleic acid-targeted therapies already approved for the treatment of conditions such as familial hypercholesterolaemia and transthyretin amyloidosis. For diseases caused by loss-of-function genetic variants, there is growing interest in gene therapy, applying either gene replacement strategies using adeno-associated virus vectors or gene editing strategies using tools such as the clustered regularly interspaced short palindromic repeats and clustered regularly interspaced short palindromic repeats-associated protein-9 system. Preclinical studies have highlighted the potential of this technology in CVD and promising data are beginning to emerge from early-phase clinical trials. During a European Society of Cardiology Cardiovascular Round Table workshop, the challenges of translating these novel therapeutic strategies to the routine cardiology clinic were discussed. Several key priorities were identified, including the need for disease-specific preclinical models, precision diagnostics, adequately powered clinical trials with meaningful endpoints, and enhanced education of healthcare professionals and patients. The Cardiovascular Round Table also considered the role of polygenic risk scores in risk stratification and how these can potentially be implemented in clinical practice.
The era of interventional imaging has arrived: what role for computed tomography and magnetic resonance?
Authors: Mushtaq Saima , Fazzari Fabio , Mancini Maria Elisabetta , Pontone Gianluca
Published: February 2025

Coronary computed tomography angiography (CCTA) is the first-line investigation test to ‘rule out’ significant coronary artery disease in low-risk patients. By performing blood flow simulations using computational fluid dynamics, it is possible to derive fractional flow reserve (FFR) from CCTA (FFRCT) images. Coronary computed tomography angiography and FFRCT are now utilized in higher-risk patients to choose the revascularization mode. Furthermore, new applications of CCTA and FFRCT include a planning tool for percutaneous coronary intervention (PCI), which allows the cardiologist to assess lesion-specific ischaemia, plan stent locations and sizes, and use virtual remodelling of the lumen (virtual stenting) to assess the functional impact of PCI. Moreover, CCTA can assist in planning surgical and percutaneous revascularization by determining the disease complexity, vessel size, lesion length, and tissue composition of the atherosclerotic plaque, as well as the best fluoroscopic viewing angle; it may also help in selecting adjunctive percutaneous devices (e.g. rotational atherectomy) and in determining the best landing zone for stents or bypass grafts. Coronary computed tomography angiography has become also the gold standard for pre-procedural annular assessment, device sizing, risk determination of annular injury, coronary occlusion or left ventricular outflow tract obstruction, calcification visualization and quantification of the target structure, and prediction of a co-planar fluoroscopic angulation for transcatheter interventions in patients with structural heart disease. Coronary computed tomography angiography and cardiac magnetic resonance could be used also in electrophysiology procedures of atrial fibrillation and ventricular arrhythmias ablation (imaging during clinical evaluation and pre-procedural evaluation and intra-procedural live integration). The era of interventional imaging has arrived, and it is based on the cooperation of different figures with specific competences (cardio-imagers, electrophysiologists, cardiac surgeons, and invasive cardiologists)
Remote monitoring and heart failure
Authors: Pierucci Nicola , Laviola Domenico , Mariani Marco Valerio , Nardini Alessio , Adamo Francesco , Mahfouz Karim , Colaiaco Carlo , Ammirati Fabrizio , Santini Luca , Lavalle Carlo
Published: February 2025

Heart failure (HF) represents one of the leading causes of morbidity and mortality worldwide. In recent years, remote monitoring (RM) and telemedicine have emerged as a promising strategy to improve the management of patients with HF, reducing hospitalizations and enhancing the quality of life. Through the integration of technologies such as implantable sensors, home monitoring devices, and mobile applications, it is possible to detect clinical changes early, enabling timely interventions. This article provides an overview of available technologies for RM in HF, analyses the clinical benefits observed in various studies, and addresses the remaining challenges, such as the need for standardization, long-term sustainability, and widespread adoption. Remote monitoring offers significant potential to improve clinical outcomes but requires further research and development to optimize its use in clinical practice.
A chromosome-level genome assembly of the European green toad (Bufotes viridis)
Authors: Rödin-Mörch Patrik , Bunikis Ignas , Choi Eunkyoung , Ciofi Claudio , Diedericks Genevieve , Diroma Maria Angela , Einarsdóttir Elísabet , Försäter Kristofer , Heintz Julia , Jonsäll Linnea , Lantz Henrik , Laurila Anssi , Leitão Henrique G , Mosbech Mai-Britt , Natali Chiara , Olsen Remi-André , Vinnere Pettersson Olga , Soler Lucile , Svardal Hannes , Proux-Wéra Estelle , Höglund Jacob
Published: February 2025

The European green toad (Bufotes viridis) is geographically widely distributed. While the species global conservation status is labeled as of least concern by the IUCN, it is declining in many parts of its range where populations are fragmented and isolated. A high-quality reference genome is an important resource for conservation genomic researchers who are trying to understand and interpret the genomic signals of population decline, inbreeding, and the accumulation of deleterious mutations. Here, we assembled and annotated a chromosome-level reference genome for B. viridis as part of the European Reference Genome Atlas pilot project. The genome assembly, with a size of ∼3.89 Gb consists of 11 chromosomes and an additional 2,096 unplaced scaffolds. The final assembly had a scaffold N50 value of 478.39 Mb and covered 90.4% single copy tetrapod orthologs, and 46.7% repetitive elements. Finally, a total of 23,830 protein-coding genes matching a known gene, together with 56,974 mRNAs were predicted. This high-quality reference genome will benefit amphibian evolutionary genomics research and enable conservation genetic studies to inform practical conservation work on this species.
Integrating Machine Learning and Environmental and Genetic Risk Factors for the Early Detection of Preclinical Alzheimer's Disease
Authors: Al-Hammadi Noor , Abouelyazid Mahmoud , Brown David C , Lalwani Pooja , Devos Hannes , Carr David B , Babulal Ganesh M
Published: February 2025

Objective

This study classified preclinical Alzheimer’s disease (AD) using cognitive screening, neighborhood deprivation via the Area Deprivation Index (ADI), and sociodemographic and genetic risk factors. Additionally, it compared the predictive accuracy of multiple machine learning algorithms and examined model performance with two bootstrapping procedures.

Methods

Data were drawn from a longitudinal cohort that required participants to be age 65 or older, cognitively normal at baseline, and active drivers, defined as taking at least one trip a week. Naturalistic driving data were collected using a commercial datalogger. Biomarker positivity was determined via amyloid pathology using cerebrospinal fluid and positron emission tomography imaging. ADI was captured based on geocoding latitude and longitude to derive a national ranking for the specific location (home or unique destination). Machine learning algorithms classified preclinical AD. Each individual model’s predictive ability was confirmed in a 20% testing dataset with 100 rounds of resampling with and without replacement.

Results

Among 292 participants (n = 2,792 observations), including ADI of trip destinations, participants’ home ADI, and frequency of trips to the same ADI led to a slight but notable improvement in predicting preclinical AD. The ensemble model demonstrated superior predictive performance, highlighting the potential of integrating multiple models for early AD detection.

Discussion

Our findings underscore the importance of incorporating socioeconomic and environmental variables, such as neighborhood deprivation, in predicting preclinical AD. Addressing socioeconomic disparities through public health strategies is crucial for mitigating AD risk and enhancing the quality of life for older adults.