bluuebunny/crossref_metadata_2025 huggingface dataset:
Effect of nonmagnetic impurities and defects on superconducting pairing correlations with s*- and dx2−y2-symmetry and localization of Cooper pair condensate in high-temperature superconductors
Authors: Elesin V. F. , Krasheninnikov A. V. , Openov L. A.
Published: January 2025

The pairing correlation functions in a Cu4O8 cluster have been calculated by exact diagonalization. It is shown that there are no pairing correlations with s-symmetry for a cluster with hole-doping, while correlations with s*-symmetry are much stronger than those with dx2−y2-symmetry. The influence of Anderson disorder with degree W on pairing correlations with s*- and dx2−y2-symmetry is investigated. It is found that an increase in W leads to a much faster suppression of correlations in the dx2−y2-channel than in the s*-channel. In the case of electron doping, correlations with s- and dx2−y2-symmetry are absent while those with s*-symmetry depend weakly on W. Together with the hypothesis of localization of Cooper pair condensate, the obtained results provide a self-consistent picture of the influence of nonmagnetic impurities and defects on p- and n-type high-Tc superconductors.
Collective properties of superconductors with d-pairing
Authors: Brusov P. N. , Brusova N. P. , Brusov P. P.
Published: January 2025

The method of functional integration is used for constructing a model of d-pairing for superconducting and superfluid Fermi systems (HTS materials, heavy fermion systems (HFS), and quantum liquids). The model is applied in an analysis of the collective excitation spectrum in all superconducting phases of HTS compounds and HFS, which appear in the symmetry classification of these systems. The spectrum contains 10 modes in each phase, half of which are high-frequency modes, and the other half quasi-Goldstone (or Goldstone) modes. The obtained results can be useful in determining the type of pairing and the order parameter in HTS and HFS with the help of experiments on absorption of ultrasound and microwaves as well as in their interpretation.
Electron–hole asymmetry of high-temperature superconductors
Authors: Zaitsev R. O. , Mikhailova Yu. V.
Published: January 2025

The particle–hole asymmetry of the phase diagram for the superconducting state, which is associated with Coulomb corrections to the electron hopping integrals with a high electron density, is considered. A new domain of the superconducting state pertaining to upper Hubbard subband is discovered.
Problem on a single hole in the two-dimensional Hubbard model with infinite repulsion
Authors: Mikhailova Yu. V.
Published: January 2025

The energy spectrum and wave functions in the two-dimensional Hubbard model with infinite repulsion are studied for an N × N cluster in a system with a single hole and an inverted spin. The calculations are carried out for given values of the total quasimomentum α of the system. The system of four nonlinear algebraic equations defining the energy levels of the cluster is derived. The analysis is confined to the simplest case when αx = αy = α, α = (0, π).
Pairing correlation in CuO2 plane: new nonlocal world-line Monte Carlo algorithm
Authors: Kashurnikov V. A.
Published: January 2025

A new nonlocal Monte Carlo world-line algorithm is proposed for the 2D–CuO2 plane based on a breaking up of the plane into five-site CuO4 cells. The algorithm is rapidly convergent and makes it possible to study the symmetry of the superconducting state. It has been used to calculate for the first time the characteristics of the 2D Cu–O cluster with Na = 768(16 × 16CuO2 cells) sites. It is shown that within the chosen interval of Emery Hamiltonian parameters Ud = 3 – 8t, ε = 1 – 3t, Up = V = 0, temperatures T ⩾ 0.125t, and carrier concentration 0.7 ⩽ x ⩽ 1.5, (i) long-range off-diagonal order (indicating the superconducting state) is not observed in any of the pairing channels in the thermodynamic limit, (ii) a tendency towards the divergence of s*- and dx2−y2-pairing correlations, observed upon a decrease in temperature, is due to the antiferromagnetic ordering on the copper sublattice. For the carrier concentration x = 1.0 (insulating state), the pairing correlations have the maximum amplitude, the characteristic correlation length being close to the antiferromagnetic length.
Modified statistical method and electron charge distribution in HTS materials
Authors: Reznik I. M.
Published: January 2025

The theory presented for calculating the electron density generalizes the Thomas–Fermi statistical method and extends the field of its applicability for the case of a small correction to the smoothly varying potential.
The behavior of superconducting gaps in a two-band model of HTSC
Authors: Konsin P. , Kristoffel N. , Rubin P.
Published: January 2025

The carrier concentration and temperature dependences of superconducting gaps are calculated for La2−xSrxCuO4 and Y1Ba2Cu3O7−y in a two-band model. The ratios 2|Δ1, 2(0)|/kBTc show peculiarities as a function of the carrier concentration. Temperature dependences of superconducting gaps are of the BCS type.
Localized hole states in La2CuO4+δ
Authors: Rubin P. , Sherman A.
Published: January 2025

Bound hole states induced by excess oxygen in La2CuO4+δ are studied in the framework of the extended Hubbard model with the use of the spin-wave approximation. It is shown that the bound states are subdivided into two groups connected with different perturbations introduced by the excess oxygen in an antiferromagnetically ordered crystal. We interpret the two-band structure of the impurity reflectivity spectrum as a manifestation of these two groups of bound states. Calculated binding energies are in agreement with experiment.
Phonon structure in tunnel conductivity as a possible key to the high-temperature superconductivity mechanism
Authors: D’yachenko A. I. , Svistunov V. M.
Published: January 2025

The extent to which anisotropy effect influence the phonon structure in the derivative d2I/dV2 of the tunnel current was investigated through a direct solution of the Eliashberg equation. The s- and d-pairing as well as the effect of impurity scattering were analyzed. It is shown that in the case of a strong anisotropy of the superconducting energy gap Δ(k), the phonon structure in d2I/dV2 remains “isotropic” and should be observed for eV = ℏω + ⟨ Δ ⟩, where ω is the frequency of phonon singularity, and the effective gap ⟨ Δ ⟩ is close to the maximum value of Δ(k). The factors blurring the phonon structure can be taken into account by replacing the complex parameter Δ(ω) of the energy gap by Δ(ω + iΓ) in the Dynes formula for N(ω, Γ)
Manifestations of a strong electron–polaron effect in superconducting properties of amorphous metals with quantum defects of the hydrogen type
Authors: Zhernov A. P.
Published: January 2025

Superconducting properties (including the isotopic shift factor for critical temperature, the dependence of the order parameter ΔS on coupling constant, and the upper critical magnetic field Hc2di) of metals with quantum defects of the hydrogen type are considered. The role of electron–polaron effect is analyzed by using the adiabatic approximation.
Analysis of experimental heat capacity of HoBa2Cu3O7–δ: electron heat capacity and phonon spectrum characteristics
Authors: Naumov V. N. , Frolova G. I. , Amitin E. B.
Published: January 2025

The electron component γT of heat capacity was derived from the experimental data on the heat capacity of HoBa2Cu3O7–δ in the normal state (above Tc). The heat capacity was divided into phonon and electron components by using a special technique based on the representation of lattice heat capacity in terms of a finite number of moments Θi of the phonon density of states. Apart from the value of γ, numerical values of the second moment Θ2, the fourth moment Θ4, and the effective moment Θ* characterizing the upper limit of the phonon density of states were also obtained. In comparison to the phonon spectrum of YBCO, the phonon spectrum of HoBCO is in general softer due to the replacement of the lighter Y ion by the heavier Ho ion. Such a softening of the phonon density of states makes it possible to separate the electron heat capacity in HoBa2Cu3 O7–δ in the superconducting transition region, as well as the heat capacity jump ΔC.
Comparison of structural and superconducting properties of Bi2 Sr2CaCu2Ox whiskers
Authors: Gorlova I. G. , Timofeev V. N.
Published: January 2025

A comparative analysis of structural and conducting properties of Bi2 Sr2CaCu2Ox (BSCCO) whiskers is carried out. The samples were studied with the help of a transmission electron microscope. The whiskers with transverse dimensions down to 1 × 0.1μm were high-quality single crystals. Some samples were completely free of dislocations and contained only superstructural defects. It is shown that the quasi-one-dimensional behavior of paraconductivity is not associated with dislocations. However, the excess conductivity is strongly suppressed in twinned whiskers. A possible reason behind anisotropy in paraconductivity and one-dimensional behavior can be a superstructure existing along the b-axis in BSCCO single crystals.
Effect of strong magnetic fields on the lattice parameters of YBaCuO ceramics
Authors: Asadov A. K. , Malyshev E. N. , Ul’yanov A. N. , Kuzovlev Yu. E.
Published: January 2025

The effect of a magnetic field (up to 5.4 T) on the lattice parameters of YBaCuO ceramics is investigated in the temperature range 600–700° C. The obtained results are explained by magnetic blocking of weakly bound oxygen, The ratio D(O)/D(H) of the oxygen diffusion coefficients varies in experiments from 1.03 to 1.28.
Dilatation volumes of oxygen defects in high-temperature superconductors
Authors: Degtyarenko N. N. , Elesin V. F.
Published: January 2025

Dilatation volumes of basic defects in the oxygen subsystem of YBa2 Cu3O7–x are calculated by the molecular dynamics method. Defects of the type of oxygen atom disordering in the basal plane of YBa2Cu3O7, oxygen vacancies, and interstitial atoms are considered. It is shown that the dilatation volume of an oxygen vacancy in YBa2Cu3O7–x [position O(4)] has the positive sign and the value of the order of several Å3 (on account of change in the charge state of the nearest copper atoms). The results of calculations are compared with experimental data.
Effect of synthesis and annealing conditions on superconducting properties of Hg-based HTS materials
Authors: Lutciv R. V. , Myasoedov Yu. N. , Matviiv M. V.
Published: January 2025

A correlation between changes in the superconducting transition temperature Tc, oxygen occupancy for positions in the HgOδ plane, the copper–oxygen binding energy in the CuO2 plane, and the copper–apical oxygen binding energy is established in the ionic model for high-temperature superconductors of the series HgBa2Can−1CunO2n+2+δ. It is shown that the value of Tc for the compound HgBa2Ca2Cu3O8+δ in which Hg2+ is partially replaced by Pb4+ changes depending on the doping level of the precursor Ba2Ca2Cu3Oδ and the conditions of annealing.
Localized and quasi-low-dimensional phonons in multilayered crystals of HTS type
Authors: Gospodarev I. A. , Kosevich A. M. , Syrkin E. S. , Feodos’ev S. B.
Published: January 2025

The presence of quasi-localized vibrations and quasi-low-dimensional phonons in the phonon spectrum of a multilayered crystal of the Y–Ba–Cu–O type is established on the basis of calculation of partial frequency distribution functions. The factors responsible for the presence of quasi-one- and two-dimensional phonons in the crystal whose elastic properties differ significantly from the quasi-low-dimensional behavior are analyzed.
Softening of a “nonmagnetic” elastic mode in a plate of FeBO3 antiferromagnet
Authors: Tarakanov V. V. , Khizhnyĭ V. I.
Published: January 2025

A decrease in the Fabry–Perot acoustic resonance frequency is observed at 77 K in a thin FeBO3 plate in a weak magnetic field H≃40−160 Oe at a shear mode η polarized orthogonally to the soft (magnetoelastic) mode ζ. The frequency shift Δfη, of the acoustic resonance reaches 0.1 Δfζ (where Δfζ is the frequency shift of the soft mode) as the value of H decreases from 1 kOe to 40 Oe. The observed effect can be explained by the piezomagnetic properties of iron borate, which have not been investigated previously.
Magnetoelastic mechanism of modulation instability of spin waves in thin magnetic films
Authors: Tarasenko S. V.
Published: January 2025

Lattice-induced anomalies in self-focusing and self-channeling of a high-intensity volume spin wave are studied in a bounded magnet.
On the spectrum of the polyallyl spin chain
Authors: Zhikol O. A. , Cheranovskiĭ V. O.
Published: January 2025

The low-energy region of the exact spectrum of the model organic ferromagnet, viz., a polyallyl spin chain, is studied for various values of the exchange integral λ describing interaction between radical centers and polyene chain. An analysis based on the perturbation theory for large and small λ and the estimates based on the extrapolation of the results of exact numerical calculations for finite chain fragments to an infinite chain reveal the existence of three different types of excitations in the exact spectrum of a polyallyl chain. The first type of excitations is gapless and similar to one-magnon excitations of the Heisenberg ferromagnetic chain, which lead to a decrease in the total spin. The second type of excitations leads to an increase in the total spin and is characterized by a finite gap for any λ. The third type does not change the total spin of the chain and is separated by a gap from the ground state for large λ.
Influence of structure defects emerging as a result of deformation at 4.2 K on the critical current of superconducting niobium
Authors: Aksenov V. K. , Sokolenko V. I. , Starodubov Ya. D.
Published: January 2025

The influence of deformation defects generated by torsional deformation at 4.2 K on field dependences of the critical current density Jc(H) of niobium is studied. It is shown that an increase in flow stress causes a typical increase in Jc near Hc2 and “anomalous” decrease in Jc in relatively weak fields. The latter effect is associated with an enhancement of thermomagnetic instability at the sites of localization of plastic deformation (twin boundaries and regions of rotational plasticity). It was proved earlier that the superconducting transition temperature Tc in these regions is much higher (by ∽10%), ensuring high-density local critical currents. The characteristics of thermomagnetic instability are estimated.
Similarity of the softening effect in the superconducting state in HTS and LTS materials
Authors: Lazarev B. G. , Starodubov Ya. D. , Sergeeva G. G. , Lazareva M. B. , Chirkina L. A. , Okovit V. S. , Karaseva E. V. , Frolov V. A. , Chechkin A. V. , Petrenko V. T. , Tikhonovskii M. A.
Published: January 2025

The creep rate, peculiarities of the internal friction spectrum, and the resistance of a planar contact are studied for a two-phase bismuth ceramic. The displacement of the peak on the temperature dependence of the creep rate and singularities of the planar contact resistance in an external magnetic field point towards the effect of variations in the free charge carrier system in the superconducting state on the dislocation dynamics. The obtained results confirm an earlier assumption concerning the dislocation mechanism of softening of the ceramic in the superconducting state and do not contradict the BCS theory of pairing of charge carriers.
Electronic mechanism of sound velocity variation induced by magnetic field in magnetically ordered metal superlattices
Authors: Okulov V. I. , Ustinov V. V. , Pamyatnykh E. A. , Slovikovskaya V. V.
Published: January 2025

It is shown that the magnetic-deformation interaction of electrons with elastic vibrations in metallic magnetic superlattices leads to a magnetic field dependence of the velocity of sound due to a change in the relative orientation of magnetization of ferromagnetic metal layers. The correlation of such field dependences of elastic moduli and the magnetoresistance of superlattices having a giant magnetoresistance is predicted. The formulas describing the manifestation of this effect in the normal penetration of ultrasound and in the Love wave spectrum in structures consisting of the multilayered film under investigation and a bulk crystal substrate are presented.
Intravital imaging of pulmonary lymphatics in inflammation and metastatic cancer
Authors: Cleary Simon J. , Qiu Longhui , Seo Yurim , Baluk Peter , Liu Dan , Serwas Nina K. , Taylor Catherine A. , Zhang Dongliang , Cyster Jason G. , McDonald Donald M. , Krummel Matthew F. , Looney Mark R.
Published: January 2025

Intravital microscopy has enabled the study of immune dynamics in the pulmonary microvasculature, but many key events remain unseen because they occur in deeper lung regions. We therefore developed a technique for stabilized intravital imaging of bronchovascular cuffs and collecting lymphatics surrounding pulmonary veins in mice. Intravital imaging of pulmonary lymphatics revealed ventilation dependence of steady-state lung lymph flow and ventilation-independent lymph flow during inflammation. We imaged the rapid exodus of migratory dendritic cells through lung lymphatics following inflammation and measured effects of pharmacologic and genetic interventions targeting chemokine signaling. Intravital imaging also captured lymphatic immune surveillance of lung-metastatic cancers and lymphatic metastasis of cancer cells. To our knowledge, this is the first imaging of lymph flow and leukocyte migration through intact pulmonary lymphatics. This approach will enable studies of protective and maladaptive processes unfolding within the lungs and in other previously inaccessible locations.
Adamot
Authors: Shelleg Assaf
Published: January 2025

Chapter 1 launches an extended discussion on the key variables of Hebrew culture (or Hebrewism) and the way their functions and synergy had gradually dissolved. Titled adamot, this chapter shows how compositions that gave voice to different and incongruent lands (adamot) signaled the afterness of Hebrew culture, which has steadily become a non-reference in composers’ works. The ecosystem breeding such formulations was the Tel Aviv University Music Academy. Its composition faculty included older composers like Abel Ehrlich and Mordecai Seter, who had grown painfully disillusioned with Zionism, yet it took the arrival of Leon Schidlowsky, who immigrated from Chile in 1969, after having gained firsthand experience with post–World War II avant-garde, to produce new actors in this space. Discussing Schidlowsky’s music in Chile and Israel alongside the early works of young composers at the Tel Aviv University Music Academy—Betty Olivero, Ron Weidberg, Dan Yuhas, and Arik Shapira—Chapter 1 displays the manners by which they grappled with the separation of Jewish ethnography from art and Western aesthetic criteria. Whereas Schidlowsky’s minority consciousness never ceased to steer his writing, his Israeli students were distrustful of the nationalization of religion while they nevertheless abided by the separation of art from ethnography. In the early 1980s Betty Olivero undid this separation during her graduate studies in the United States (with Jacob Druckman and Luciano Berio), drawing on Judeo-Spanish songs, while Arik Shapira’s violent oppositionality to Hebrew culture at the same time was caught in an indoctrinating ideological apparatus he could only disrupt from within.
Human vs Machine: The Future of Decision-making in Plastic and Reconstructive Surgery
Authors: Duran Alpay , Demiröz Anıl , Çörtük Oguz , Ok Bora , Özten Mustafa , Eroğlu Sinem
Published: January 2025

Background

Artificial intelligence–driven technologies offer transformative potential in plastic surgery, spanning preoperative planning, surgical procedures, and postoperative care, with the promise of improved patient outcomes.

Objectives

To compare the web-based ChatGPT-4o (omni; OpenAI, San Francisco, CA) and Gemini Advanced (Alphabet Inc., Mountain View, CA), focusing on their data upload feature and examining outcomes before and after exposure to continuing medical education (CME) articles, particularly regarding their efficacy relative to human participants.

Methods

Participants and large language models (LLMs) completed 22 multiple-choice questions to assess baseline knowledge of CME topics. Initially, both LLMs and participants answered without article access. In incognito mode, the LLMs repeated the tests over 6 days. After accessing the articles, responses from both LLMs and participants were extracted and analyzed.

Results

There was a significant increase in mean scores after the article was read in the resident group, indicating a significant rise. In the LLM groups, the ChatGPT-4o (omni) group showed no significant difference between pre- and postarticle scores, but the Gemini Advanced group demonstrated a significant increase. It can be stated that the ChatGPT-4o and Gemini Advanced groups have higher accuracy means compared with the resident group in both pre- and postarticle periods.

Conclusions

The analysis between human participants and LLMs indicates promising implications for the incorporation of LLMs in medical education. Because these models increase in sophistication, they offer the potential to serve as supplementary tools within traditional learning environments. This could aid in bridging the gap between theoretical knowledge and practical implementation.
doubletrouble: an R/Bioconductor package for the identification, classification, and analysis of gene and genome duplications
Authors: Almeida-Silva Fabricio , Van de Peer Yves
Published: January 2025

Gene and genome duplications are major evolutionary forces that shape the diversity and complexity of life. However, different duplication modes have distinct impacts on gene function, expression, and regulation. Existing tools for identifying and classifying duplicated genes are either outdated or not user-friendly. Here, we present doubletrouble, an R/Bioconductor package that provides a comprehensive and robust framework for analyzing duplicated genes from genomic data. doubletrouble can detect and classify gene pairs as derived from six duplication modes (segmental, tandem, proximal, retrotransposon-derived, DNA transposon-derived, and dispersed duplications), calculate substitution rates, detect signatures of putative whole-genome duplication events, and visualize results as publication-ready figures. We applied doubletrouble to classify the duplicated gene repertoire in 822 eukaryotic genomes, and results were made available through a user-friendly web interface.

Availability and implementation

doubletrouble is available on Bioconductor (https://bioconductor.org/packages/doubletrouble), and the source code is available in a GitHub repository (https://github.com/almeidasilvaf/doubletrouble). doubletroubledb is available online at https://almeidasilvaf.github.io/doubletroubledb/.
Bimekizumab efficacy and safety through 3 years in patients with moderate to severe plaque psoriasis: Long-term results from the BE RADIANT phase 3b trial open-label extension period
Authors: Warren Richard B , Lebwohl Mark , Thaçi Diamant , Gooderham Melinda , Pinter Andreas , Paul Carle , Gisondi Paolo , Szilagyi Balint , White Katy , Deherder Delphine , Staelens Fabienne , Lambert Jérémy , Strober Bruce
Published: January 2025

Background

Overexpression of interleukin (IL)-17A and IL-17F significantly influences psoriasis pathology. Until recently, biologics targeting IL-17A alone, like secukinumab, were used to treat psoriasis. Bimekizumab is a monoclonal IgG1 antibody that targets both IL-17A and IL-17F. BE RADIANT was the first phase 3 study to investigate switching from selective inhibition of IL-17A to dual inhibition of IL-17A and IL-17F.

Bimekizumab has previously shown superior achievement of complete skin clearance (PASI 100) versus secukinumab through 48 weeks. Switching from secukinumab to bimekizumab resulted in improved clinical responses. Over 2 years, no new safety signals were observed.

Objective

To report 3-year efficacy and safety of bimekizumab in patients with moderate to severe plaque psoriasis receiving continuous bimekizumab, or switching from secukinumab after 1 year.

Methods

The BE RADIANT phase 3b randomised controlled trial had a 48-week double-blinded period, in which patients received bimekizumab (320 mg every 4 weeks [Q4W]), or secukinumab (300 mg weekly to Week 4, then Q4W). At Week 16, bimekizumab-randomised patients underwent re-randomisation to receive Q4W or Q8W maintenance dosing. From Week 48 onwards (open-label extension), all received bimekizumab.

Results

336 bimekizumab- and 318 baseline secukinumab-randomised patients entered the open-label extension. Among these, more bimekizumab-randomised patients achieved PASI 100 (modified non-responder imputation) at Year 1 (74.9%) versus secukinumab-randomised patients (52.8%). PASI 100 response rates were maintained over 3 years in bimekizumab-treated patients (68.8%) and increased in secukinumab-randomised patients switching to bimekizumab (68.8%).

Bimekizumab was well-tolerated to 3 years. In patients receiving ≥1 bimekizumab dose, the most common treatment-emergent adverse events (TEAEs) over 3 years were nasopharyngitis, oral candidiasis, and upper respiratory tract infection (exposure adjusted incidence rates: 12.2, 10.0, and 5.5/100 patient-years, respectively). Rates of TEAEs of interest, including serious infections, inflammatory bowel disease, and suicidal ideation and behaviour, did not increase with longer exposure to bimekizumab from 1 to 3 years.

Conclusion

Over two-thirds of bimekizumab-randomised patients and those switching from secukinumab to bimekizumab achieved and maintained complete skin clearance over 3 years of treatment. Over 3 years, bimekizumab was well-tolerated, and TEAE rates did not increase with longer exposure.
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Authors: Coleman Matthew , Wang Min , Snell Penny , Lee Wei Shern , D'Arcy Colleen , Mignone Cristina , Pope Kate , Gillies Greta , Maixner Wirginia , Wray Alison , Harvey A Simon , Simons Cas , Leventer Richard J , Stephenson Sarah E M , Lockhart Paul J , Howell Katherine B
Published: January 2025

Infantile epileptic spasms syndrome is a severe epilepsy of infancy that is often associated with focal malformations of cortical development. This study aimed to elucidate the genetic landscape and histopathologic aetiologies of infantile epileptic spasms syndrome due to focal malformations of cortical development requiring surgery. Fifty-nine children with a history of infantile epileptic spasms syndrome and focal malformations of cortical development on MRI were studied. Genetic testing of resected brain tissue was performed by high-coverage targeted panel sequencing or exome sequencing. Histopathology and MRI were reviewed, and integrated clinico-pathological diagnoses were established. A genetic diagnosis was achieved in 47 children (80% of cohort). Germline pathogenic variants were identified in 27/59 (46%) children, in TSC2 (x19), DEPDC5 (x2), CDKL5 (x2), NPRL3 (x1), FGFR1 (x1), TSC1 (x1), and one child with both a TUBB2A/TUBB2B deletion and a pathogenic variant in COL4A1 (x1). Pathogenic brain somatic variants were identified in 21/59 (36%) children, in SLC35A2 (x9), PIK3CA (x3), AKT3 (x2), TSC2 (x2), MTOR (x2), OFD1 (x1), TSC1 (x1) and DEPDC5 (x1). One child had ‘two-hit’ diagnosis, with both germline and somatic pathogenic DEPDC5 variants in trans. Multimodal data integration resulted in clinical diagnostic reclassifications in 24% of children, emphasizing the importance of combining genetic, histopathologic and imaging findings. Mammalian target of rapamycin pathway variants were identified in most children with tuberous sclerosis or focal cortical dysplasia type II. All nine children with somatic SLC35A2 variants in brain were reclassified to mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Somatic mosaicism was a major cause of focal cortical dysplasia type II/hemimegalencephaly (81%) and mild malformation of cortical development with oligodendroglial hyperplasia (100%). The genetic landscape of infantile epileptic spasms syndrome due to focal malformations comprises germline and somatic variants in a range of genes, with mTORopathies and SLC35A2-related mild malformation of cortical development with oligodendroglial hyperplasia being the major causes. Multimodal data integration incorporating genetic data aids in optimizing diagnostic pathways and can guide surgical decision-making and inform future research and therapeutic interventions.
Stuck between a rock and a hard place: heart failure with bilateral atrial appendage thrombi and disseminated intravascular coagulation—a case report
Authors: Mazzeo Pietro , Bufano Gabriella , Fioretti Vincenzo , Corbo Maria Delia , Stabile Eugenio
Published: January 2025

Background

The simultaneous occurrence of left atrial appendage (LAA) and right atrial appendage (RAA) thrombosis is a rare finding in atrial fibrillation (AF). In addition, concomitant conditions, such as heart failure (HF) and disseminated intravascular coagulation (DIC), could be associated with intracardiac thrombosis. Morganella morganii is an emerging pathogen, and the association with DIC and cardiac thrombosis is not yet described.

Case summary

A 69-year-old Caucasian man was admitted to the hospital for progressive dyspnoea and new-onset diarrhoea. His physical examination revealed signs of HF and new-onset AF; laboratory tests showed marked thrombocytopaenia and coagulopathy. Blood and urine cultures were positive for M. morganii, and the International Society on Thrombosis and Hemostasis criteria were diagnostic for DIC. Transthoracic echocardiogram revealed a large, mobile left atrial mass and severely reduced left ventricular function. Transoesophageal echocardiogram showed two masses: one in the LAA and one in the RAA. Positron emission tomography/computed tomography scan excluded infective endocarditis and malignancies. After the beginning of antibiotic therapy and anticoagulation, the patient developed severe bleeding. Unfortunately, his haemodynamic status was complicated by multi-organ failure, and at the end, he developed irreversible cardiogenic shock. We present this challenging case of HF and AF complicated by DIC in the context of M. morganii infection.

Discussion

Multiple mechanisms, such as inflammatory storm, activation of coagulation cascade, and amplified immune response, may explain the hyper-coagulable state related to DIC. In our case, HF, AF, and DIC may have facilitated RAA thrombosis, which is a rare finding. To the best of our knowledge, this is the first reported case of concomitant cardiac thrombosis as a complication of DIC in the context of M. morganii infection. This highlights the need among clinicians for an increased awareness about this pathogen and the complications of its infection.
Inflorescence size predicts host-symbiont conflict in monoecious fig-wasp mutualisms
Authors: Dunn Derek W , Jandér K Charlotte , Herre Edward Allen , Segar Simon T , Al-Beidh Sarah , Windsor Donald M , Cook James M
Published: January 2025

In monoecious fig-wasp mutualisms (Ficus; ~350 spp.), tiny wasps obligately pollinate fig-tree inflorescences (‘figs’). Although pollination enables seed production wasp symbionts also oviposit into flowers, replacing potential seeds with wasp offspring. Consistently across Ficus, ~40-60% of developed flowers produce seeds. Although several processes are likely involved, a general explanation for why wasps do not exploit more flowers has been elusive. However, inter-specific scaling between host-symbiont reproductive traits suggests that as figs become larger across Ficus, the increase in wasp-eggs-per pollen-receptive fig will fail to match the increase in flower numbers. The potential for wasps to exploit hosts should thus decline due to an increasing excess of flowers. We tested these predictions, which were upheld, using data from 23 fig-wasp mutualisms from four continents. As fig size increases across Ficus, wasp egg-to-flower ratios, a measure of host-symbiont conflict-of-interest, declines, but the likelihood of a wasp egg successfully becoming an adult offspring increases. Host-symbiont conflict-of-interest thus varies systematically across Ficus due to variable relationships between key mutualist reproductive traits and fig size. We suggest that mutualism stability is more dependent upon mechanisms curtailing wasp flower exploitation in systems with small figs, and on preventing high foundress numbers in those with large figs.
Substitution load revisited: a high proportion of deaths can be selective
Authors: Matheson Joseph , Exposito-Alonso Moises , Masel Joanna
Published: January 2025

Haldane’s Dilemma refers to the concern that the need for many “selective deaths” to complete a substitution (i.e. selective sweep) creates a speed limit to adaptation. However, discussion of this concern has been marked by confusion, especially with respect to the term “substitution load”. Here we distinguish different historical lines of reasoning, and identify one, focused on finite reproductive excess and the proportion of deaths that are “selective” (i.e. causally contribute to adaptive allele frequency changes), that has not yet been fully addressed. We develop this into a more general theoretical model that can apply to populations with any life history, even those for which a generation or even an individual are not well defined. The actual speed of adaptive evolution is coupled to the proportion of deaths that are selective. The degree to which reproductive excess enables a high proportion of selective deaths depends on the details of when selection takes place relative to density regulation, and there is therefore no general expression for a speed limit. To make these concepts concrete, we estimate both reproductive excess, and the proportion of deaths that are selective, from a dataset measuring survival of 517 different genotypes of Arabidopsis thaliana grown in eight different environmental conditions. In this dataset, a much higher proportion of deaths contribute to adaptation, in all environmental conditions, than the 10% cap that was anticipated as substantially restricting adaptation during historical discussions of speed limits.
Distribution of informal caregiving for older adults living with or at risk of cognitive decline within and beyond family in rural South Africa
Authors: Matina Sostina S , Manderson Lenore , Brear Michelle , Rusere Farirai , Gómez-Olivé F Xavier , Kahn Kathleen , Harling Guy
Published: January 2025

Objectives

Aging populations will increasingly need care, much of this provided informally particularly in rural areas and in low and middle-income countries. In rural South Africa, formal support is severely limited, and adult children are frequently unavailable due to morbidity, early mortality, employment and migration. We describe how care is shared within and between households.

Methods

We conducted quantitative interviews with 1,012 household members and non-household caregivers of 106 older adults (age ≥54) living with or at risk of cognitive decline in rural Mpumalanga, South Africa. Using descriptive statistics and regression analysis, we described how care is shared, with particular attention to generational patterns of care.

Results

Spouses, the majority women, commonly considered themselves primary caregivers. informal care was spread among family, friends, and neighbors, most commonly by unemployed female relatives one or two generations younger than the recipient. A small number of paid caregivers, also mostly female, provided the most intensive care.

Discussion

Informal care for older adults was spread widely, predominantly from co-resident family but with important contributions from others. Family commitment to care reflected shared history, reciprocal relationships, and easy access to care tasks within the household. A deeper understanding of how informal care for older adults is shared is essential for developing targeted interventions.
Resilience Amidst Adversity: Experiences of Black Older Adults During the COVID-19 Pandemic
Authors: Boatswain-Kyte Alicia , Brotman Shari , Hanley Jill , DeJean Barbara
Published: January 2025

Background and objectives

The paucity of research and policy on the impact of COVID-19 on the experiences of Black older adults in Canada and around the world has intensified the enduring impacts of racism on their health and well-being. To bridge this gap, our study explored the mental health of Black older adults in Montreal during the early period of the pandemic.

Research design and methods

Using an Afro-emancipatory mixed-method research design, we collected and analyzed data from three sources: a survey, focus group interview with service providers from Black community organizations, and individual interviews with Black older adults.

Results

Our findings reveal that Black older adults struggled with mental health challenges, including loss, grief, and intergenerational tensions, and encountered systemic barriers in accessing services. Despite these adversities, participants demonstrated remarkable resilience, drawing upon their faith and community networks for support.

Discussion and implications

This study illuminates the complex experiences of Black older adults during the pandemic and underscores the imperative of addressing mental health and systemic barriers. Understanding ongoing challenges is crucial for developing targeted interventions and policies that promote long-term resilience and equitable healthcare for Black older adults.
Opportunities to Digitally Enable Falls Prevention in Older Adults
Authors: Gulline Hannah , Melder Angela , Barker Anna , Dickins Marissa , Smith Karen , Ayton Darshini
Published: January 2025

Falls are a serious problem confronting older adults. Evidence demonstrates that multifactorial interventions that target multiple risk factors can reduce falls. However, resource and access constraints impact intervention uptake and sustainability. In comparison, digitally enabled interventions have the potential to provide greater support and convenience whilst being tailored to an individual. While digital advancements present an opportunity to improve access, scalability and sustainability, there is limited knowledge on how to digitally enable traditional interventions. In this article, we summarise the academic literature on digital falls prevention and propose future research directions for digital falls prevention. We examine barriers and enablers to digital falls prevention in aged care, although, given the scarcity of evidence, we draw on lessons from other digital healthcare innovations.
Exploring the cellular and molecular basis of murine cardiac development through spatiotemporal transcriptome sequencing
Authors: Kang Jingmin , Li Qingsong , Liu Jie , Du Lin , Liu Peng , Liu Fuyan , Wang Yue , Shen Xunan , Luo Xujiao , Wang Ninghe , Wu Renhua , Song Lei , Wang Jizheng , Liu Xin
Published: January 2025

Background

Spatial transcriptomics is a powerful tool that integrates molecular data with spatial information, thereby facilitating a deeper comprehension of tissue morphology and cellular interactions. In our study, we utilized cutting-edge spatial transcriptome sequencing technology to explore the development of the mouse heart and construct a comprehensive spatiotemporal cell atlas of early murine cardiac development.

Results

Through the analysis of this atlas, we elucidated the spatial organization of cardiac cellular lineages and their interactions during the developmental process. Notably, we observed dynamic changes in gene expression within fibroblasts and cardiomyocytes. Moreover, we identified critical genes, such as Igf2, H19, and Tcap, as well as transcription factors Tcf12 and Plagl1, which may be associated with the loss of myocardial regeneration ability during early heart development. In addition, we successfully identified marker genes, like Adamts8 and Bmp10, that can distinguish between the left and right atria.

Conclusion

Our study provides novel insights into murine cardiac development and offers a valuable resource for future investigations in the field of heart research, highlighting the significance of spatial transcriptomics in understanding the complex processes of organ development.
The 2020 Mw 6.4 Koryak Highlands earthquake illustrates hidden seismic hazards in the northern Pacific Cordillera
Authors: Salomon Guy , Nissen Edwin , Tan Fengzhou , Bergman Eric , Sloan Alastair , Pousse-Beltran Léa
Published: January 2025

On 2020 January 9, an Mw 6.4 earthquake struck the central Koryak Highlands of eastern Siberia, northeast of the diffuse triple junction between the North American, Pacific and Eurasian plates. The largest earthquake recorded in the central Koryak Highlands to date, it provides an excellent opportunity to study the little-known active tectonics of this remote, sparsely instrumented region. We mapped coherent, coseismic surface deformation with Sentinel 1 Interferometric Synthetic Aperture Radar (InSAR), making this one of the highest latitude earthquakes to be captured successfully with satellite radar, in spite of the rugged, snow-covered terrain. Elastic dislocation modelling, teleseismic backprojections, calibrated hypocentral relocations and teleseismic moment tensor solutions are used to resolve a left-lateral fault trending northwestwards, proximal but perpendicular to a regional geological suture zone, the Khatyrka–Vyvenka Thrust. The earthquake probably ruptured unilaterally northwestwards along a 20 km long segment that appears indistinct in the local topography, and likely generated no surface rupture. We interpret that these observations are indicative of a structurally immature fault zone and estimate a seismogenic zone thickness of 10–15 km. The Koryak Highlands earthquake illustrates how terrane boundaries within cordilleran belts may continue to accommodate tectonic strain long after accretion, resulting in significant earthquakes even along hidden faults.
Peptidergic Modulation of the Lobster Cardiac System Has Opposing Action on Neurons and Muscles
Authors: Petropoulos I S , Jordan A E , Dickinson P S , Powell D J
Published: January 2025

Synopsis

Modulation of neuronal networks, primarily through neuropeptides, generates variations in motor patterns that allow organisms to adapt to environmental changes or sensory inputs. Modulation is complex, with receptors for neuromodulators expressed at various locations within a nervous system; neuromodulators can thus alter muscle dynamics peripherally via the neuromuscular junction (NMJ) and the muscle itself. The neurogenic cardiac neuromuscular system of the American lobster (Homarus americanus) is a well-characterized model for investigating peptidergic modulation. Myosuppressin (pQDLDHVFLRFamide) is an endogenous peptide that interestingly decreases contraction frequency while also increasing contraction force by acting at both the lobster heart central pattern generator (CPG; the cardiac ganglion) and the periphery (cardiac muscles). Myosuppressin decreases heartbeat frequency by decreasing the burst frequency of the cardiac ganglion. Here, we investigated the remaining question, does myosuppressin exert its peripheral effects directly on the cardiac muscle, the NMJ, or both? To elucidate myosuppressin's effects on the cardiac muscle, the muscle was isolated from the CPG, and contractions were evoked using focal application of the endogenous neurotransmitter, l-glutamate, while superfusing myosuppressin over the heart. Myosuppressin increased glutamate-evoked contraction amplitude in the isolated muscle, suggesting that myosuppressin exerts its peripheral effects directly on the cardiac muscle. To examine effects on the NMJ, excitatory junction potentials were evoked by stimulating the motor nerve and recording the intracellular membrane voltage from a single muscle fiber both in control saline and in the presence of myosuppressin. Myosuppressin did not modulate the amplitude of excitatory junction potentials suggesting that myosuppressin acts directly on the muscle and not via the NMJ, to cause an increase in contraction force.
Machine learning-based risk prediction of outcomes in patients hospitalized with COVID-19 in Australia: the AUS-COVID Score
Authors: Sritharan Hari P , Nguyen Harrison , van Gaal William , Kritharides Leonard , Chow Clara K , Bhindi Ravinay
Published: January 2025

Objectives

We aimed to develop a highly interpretable and effective, machine learning (ML)-based risk prediction algorithm to predict in-hospital mortality, intubation, and adverse cardiovascular events in patients hospitalized with coronavirus disease 2019 (COVID-19) in Australia (AUS-COVID Score).

Materials and Methods

This prospective study across 21 hospitals included 1714 consecutive patients aged ≥ 18 in their index hospitalization with COVID-19. The dataset was separated into training (80%) and test sets (20%). Eight supervised ML methods were used: least absolute shrinkage and selection operator (LASSO), ridge, elastic net (EN), decision tree, support vector machine, random forest, AdaBoost, and gradient boosting. A feature selection method was used to establish informative variables, which were considered in groups of 5/10/15/20/all. The final model was selected by balancing the optimal area under the curve (AUC) score with interpretability, through the number of included variables. The coefficients of the final models were used to build the AUS-COVID Score.

Results and Discussion

Among the patients, 181 (10.6%) died in-hospital, 148 (8.6%) required intubation, and 90 (5.3%) had adverse cardiovascular events. The LASSO model performed best for predicting in-hospital mortality (AUC 0.85) using 5 variables: age, respiratory rate, COVID-19 features on chest X-ray, troponin elevation, and COVID-19 vaccination (≥1 dose). The EN model performed best for predicting intubation (AUC 0.75) and adverse cardiovascular events (AUC 0.64), each with 5 variables. A user-friendly web-based application was built for clinician use at the bedside.

Conclusion

The AUS-COVID Score is an accurate and practical, ML-based risk score to predict in-hospital mortality, intubation, and adverse cardiovascular events in hospitalized COVID-19 patients.
Improving Wellness Through Reading Room Design and Flexible Scheduling Options
Authors: Muhammad Hamad , Puglia Millie , Colvin Stephanie , Zalasin Stefanie , Yalniz Ceren , Zamora Kathryn W , Woodard Stefanie
Published: January 2025

Breast radiologists have high rates of burnout. Some contributing factors include the sedentary nature of the occupation, reading room design and isolation associated with higher volumes, and increased remote interpretation. Reading rooms can also be filled with numerous distractions and produce conditions that do not support optimal workflow. Identifying and addressing these issues may help prolong physician careers and increase overall productivity. This article presents approaches to improve wellness for breast imaging radiologists and reduce the overall rate of burnout.
Anatomic reconstruction of isolated left main coronary artery ostial stenosis using a right internal mammary artery patch
Authors: Bara Albaraa , Izzat Ahmad Walid , Izzat Mohammad Bashar
Published: January 2025

Surgical patch angioplasty is an alternative to classic coronary artery bypass grafting for patients with isolated coronary ostial stenosis and normal distal coronary arteries. We present a case where we successfully used an arterial patch from the right internal mammary artery to restore patency of an isolated ostial left main coronary artery stenosis. This technique is likely to offer more physiological antegrade myocardial perfusion, mimic normal vascular anatomy, and may be associated with an improved outcome.