bluuebunny/crossref_metadata_2025_split huggingface dataset:
Oncogenic genodermatoses in paediatric patients with skin of colour: a review
Authors: Fazelpour Sherwin , Deverapalli Sandhya C , Nguyen Bichchau 
Published: August 2024

Abstract
Cutaneous neoplasms are relatively rare in children. Most commonly, skin cancers arise through environmental factors, particularly ultraviolet radiation; thus, age is the most predictive factor in developing cutaneous carcinomas. However, children born with certain genodermatoses are significantly more likely to develop malignancies and must be carefully monitored and treated. Most published data are based mainly on signs and symptoms present in White patients. Therefore, we aim to highlight the cutaneous presentations and relative differences of these genodermatoses among patients with skin of colour, who are underrepresented in medicine. We conducted a literature review of 504 patients presented in 236 published articles. Manuscripts with accessible case reports for children aged ≤ 17 years were included. Patients with skin of colour often present with fewer classical findings and have higher incidences of scarring and dyspigmentation. There is also a higher incidence of consanguinity in affected patients. Providers who are able to recognize nonclassical signs can provide proper management and treatment regimens, potentially bringing outcomes for patients with skin of colour more in line with those of White children.
Successful transcatheter edge-to-edge repair for atrial functional mitral regurgitation after surgical annuloplasty ring dehiscence: a case report
Authors: Kosaki Ryota , Mochizuki Yasuhide , Toyosaki Eiji , Fukuoka Hiroto , Shinke Toshiro 
Published: August 2024

Abstract

Background
Annuloplasty ring dehiscence (ARD) after surgical mitral valve repair is a rare complication, which causes recurrent mitral regurgitation (MR) and is associated with adverse outcomes in patients with a prohibitive risk of repeat surgery. However, a patient developed severe MR, when challenging transcatheter edge-to-edge repair (TEER) after surgical ring dehiscence, it should be considering the relative efficacy and safety.

Case summary
An 89-year-old man underwent mitral valve repair with an annuloplasty ring for moderate atrial functional MR (AFMR). Post-operative transthoracic echocardiography on Day 7 suggested a dislodged mitral annuloplasty ring and recurrent moderate AFMR. However, the MR developed severely, which led to two hospitalizations for congestive heart failure in the past year. Transoesophageal echocardiography (TOE) was performed carefully to ensure that the TEER clip did not interfere with the dislodged annuloplasty ring. Consequently, only the therapeutic target on the medial side of the A2–P2 region was approached posteriorly behind the peri-ring space, without gripper interference.

Discussion
Transcatheter edge-to-edge repair using the G4-MitraClip® system is feasible and safe in patients with recurrent severe AFMR after surgical mitral valve repair concomitant with ARD. Meticulous simulation with pre-operative TOE is one of the crucial steps for successful outcomes.
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
Authors: Brachet Cécile , Laemmle Alexander , Cools Martine , Sauter Kay-Sara , De Baere Elfride , Vanlander Arnaud , Pandey Amit V , du Toit Therina , Voegel Clarissa D , Heinrichs Claudine , Verdin Hannah , Flück Christa E 
Published: August 2024

Abstract

Objective
Adrenal cortisol production occurs through a biosynthetic pathway which depend on NADH and NADPH for energy supply. The mitochondrial respiratory chain and the reactive oxygen species (ROS) detoxification system are therefore important for steroidogenesis. Mitochondrial dysfunction leading to oxidative stress has been implicated in the pathogenesis of several adrenal conditions. Nonetheless, only very few patients with variants in one gene of the ROS detoxification system, Thioredoxin Reductase 2 (TXNRD2), have been described with variable phenotypes.

Design
Clinical, genetic, structural, and functional characterization of a novel, biallelic TXNRD2 splice variant.

Methods
On human biomaterial, we performed whole exome sequencing to identify and RNA analysis to characterize the specific TXNRD2 splice variant. Amino acid conservation analysis and protein structure modeling were performed in silico. Using patient's fibroblast-derived human induced pluripotent stem cells, we generated adrenal-like cells (iALC) to study the impact of wild-type (WT) and mutant TXNRD2 on adrenal steroidogenesis and ROS production.

Results
The patient had a complex phenotype of primary adrenal insufficiency (PAI), combined with genital, ophthalmological, and neurological features. He carried a homozygous splice variant c.1348-1G &gt; T in TXNRD2 which leads to a shorter protein lacking the C-terminus and thereby affecting homodimerization and flavin adenine dinucleotide binding. Patient-derived iALC showed a loss of cortisol production with overall diminished adrenal steroidogenesis, while ROS production was significantly increased.

Conclusion
Lack of TXNRD2 activity for mitochondrial ROS detoxification affects adrenal steroidogenesis and predominantly cortisol production.
The First French BIT
Authors: Yackee Jason Webb 
Published: August 2024

Abstract
This article draws upon original research in the French government archives to uncover the story of the negotiations of France’s first bilateral investment treaty – a 1963 treaty with Tunisia. France’s model for the treaty was not Germany’s now-famous 1959 investment treaty with Pakistan but, rather, Switzerland’s own (and far more obscure) first investment treaty, also with Tunisia. The article also shows that the treaty’s invocation of ‘fair and equitable treatment’ was intended to reflect only what customary international law already required. The treaty, despite the lack of an investor-state arbitration clause, seems to have been a relative success. France and Tunisia, entangled in a complex and sensitive post-colonial relationship, successfully managed the fallout from Tunisia’s sudden nationalization of French-owned agricultural properties.
The genetics of phenotypic plasticity. XVIII. Developmental limits restrict adaptive plasticity
Authors: Khare Sikander B , Holt Robert D , Scheiner Samuel M 
Published: August 2024

Abstract
After environmental change, the trait evolution needed to rescue a population depends on the functional form of the plastic change (reaction norm) of that trait. Nearly all previous models of plasticity evolution for continuous traits have assumed that the functional form is linear, that is, no limits on the range of plasticity. This paper examines the effect of developmental limits, modeled as a sigmoidal reaction norm, on evolutionary rescue after an abrupt environmental change and the subsequent evolution of plasticity, including genetic assimilation. We examined four different scenarios: (1) developmental limits only, (2) developmental limits plus a cost of plasticity, (3) developmental limits with developmental noise, and (4) developmental limits plus environmental variation. The probability of evolutionary rescue increased with an increase in phenotypic variation allowed by plastic development. With a smaller limit to the range of the plastic phenotype, the evolution of adaptive plasticity was limited, meaning the evolution of non-plastic genes was necessary. The addition of developmental constraints to the model did not speed up genetic assimilation, suggesting a new theory is needed to understand empirical observations. The modeling framework presented here could be extended to different ecological and evolutionary conditions, alternative reaction norm shapes, the evolution of additional reaction norm parameters such as the range or the location of the inflection point on the environmental axis, or other function-valued traits.
Synthesis and Antibacterial Activity of 8-Ketoberberine Derivatives
Authors: Li Feifei , Wu Jingjing , Yue Xiyan , Suo Yujuan , Li Jinliang , Wu Fanhong , Yu Yanyan 
Published: August 2024

Abstract
Natural berberine (BBR) exhibits good antimicrobial efficacy, however, its limited bioavailability greatly hinder its clinical application. In this study, 18 novel lipophilic C-8-substituted BBR prodrugs were synthesized and tested for in vitro antimicrobial activity against four common clinical pathogens, and the inhibitory mechanism was further investigated with respect to the ability of bacterial membrane formation, cell permeability, hydrophobicity, and self-cohesion. Our results found that compound 14 showed the best activity with MIC (minimum inhibitory concentration) = 15.62 µg/mL and MBC (minimum bactericidal concentration) = 31.25 µg/mL against Staphylococcus aureus (ATCC 29213) and Listeria monocytogenes (4b G). Mechanism studies showed that compound 14 has a significant inhibiting over 60% of bacterial biofilm formation at a concentration of 0.5 MIC and enhancing cell membrane permeability by 40%. Meanwhile, compound 14 can interact with the cell membrane, exposing its hydrophobic region and reducing the intercellular self-coagulation index to about 20%. The study suggests that novel compound 14 enhanced the antibacterial effect by significantly reducing bacterial surface hydrophobicity and self-cohesion and disrupting bacterial biofilm. In summary, we have created a series of 8-ketoberberine derivatives, which opens new prospects for BBR derivatives in the treatment of bacterial infections.
Detecting planted partition in sparse multilayer networks
Authors: Chatterjee Anirban , Nandy Sagnik , Sadhu Ritwik 
Published: August 2024

Abstract
Multilayer networks are used to represent the interdependence between the relational data of individuals interacting with each other via different types of relationships. To study the information-theoretic phase transitions in detecting the presence of planted partition among the nodes of a multilayer network with additional nodewise covariate information and diverging average degree, Ma and Nandy (2023, IEEE Trans. Inf. Theory, 69, 3203–3239) introduced Multi-Layer Contextual Stochastic Block Model. In this paper, we consider the problem of detecting planted partitions in the Multi-Layer Contextual Stochastic Block Model, when the average node degrees for each network are greater than $1$. We establish the sharp phase transition threshold for detecting the planted bi-partition. Above the phase-transition threshold testing the presence of a bi-partition is possible, whereas below the threshold no procedure to identify the planted bi-partition can perform better than random guessing. We further establish that the derived detection threshold coincides with the threshold for weak recovery of the partition and provides a quasi-polynomial time algorithm to estimate it.
‘Natural’ disasters, ignorance, and the mirage of Italian settler colonialism in late nineteenth-century Africa
Authors: Caglioti Angelo Matteo 
Published: August 2024

ABSTRACT
This article places the origins of Italian settler colonialism and its defeat in the battle of Adwa (1896) in the global perspective of the environmental history of European imperialism. It argues that the Italian project to turn the highlands of the Horn of Africa into a settler colony was an “imperial mirage”: the perception that the momentarily depopulated landscape of Ethiopia, produced by “natural” disasters that were in fact the social products of colonial warfare, would be available to Italian settlers in the future. This mirage was based on a domino effect of environmental catastrophes connecting climate history, animal disease, and the politics of European imperialism. Italians’ introduction of rinderpest in Eritrea in the wake of an El Niño-related drought triggered “the Great African Rinderpest Panzootic” and the “Great Ethiopian Famine”. The mixture of willful ignorance and wishful self-deception that fueled Italian projects explains Italy’s defeat in the battle of Adwa. Building on the methodology of environmental historians and scholars in Science and Technology Studies, this article shifts focus from the power of the state to the techno-politics of colonialism in its impact on natural environments and African communities through the lens of the cultural production of ignorance.
Separate from Class? Toward a Theory of Race as Resource Signal
Authors: Torres Mo 
Published: August 2024

Abstract
In the study of U.S. inequality, social scientists have long sought to tease apart the “effect of race” from the “effect of class” in our analyses. In studies of how individuals make evaluations of the social world, for instance, researchers have asked whether race or class demography shape individual perceptions, how each matters independent of the other, and ultimately which matters more. While this scientific practice is widespread, what I term the race-versus-class paradigm is only one way to analyze the relationship between race and class. The materialist tradition offers a competing approach, asking not how race matters independent of class, but how racism operates through structural, material conditions. To better explain the relationship between “race” and “class” in how individuals evaluate the social world, this paper proposes a theory of race as resource signal. In this alternative approach, race and class are interwoven, mutually constitutive, and dialectically constructed concepts unable to be meaningfully teased apart. I trace the differences in the two approaches through an empirical application, asking how individuals evaluate school quality based on neighborhood race and class demography in a video experiment.
TMEM16A regulates satellite cell-mediated skeletal muscle regeneration by ensuring a moderate level of caspase 3 activity
Authors: Sun Zhiyuan , Shan Xinqi , Fan Chun’e , Liu Lutao , Li Shuai , Wang Jiahui , Zhou Na , Zhu Minsheng , Chen Huaqun 
Published: August 2024

Abstract
It has been documented that caspase 3 activity is necessary for skeletal muscle regeneration, but how its activity is regulated is largely unknown. Our previous report shows that intracellular TMEM16A, a calcium activated chloride channel, significantly regulates caspase 3 activity in myoblasts during skeletal muscle development. By using a mouse line with satellite cell (SC)-specific deletion of TMEM16A, we examined the role of TMEM16A in regulating caspase 3 activity in SC (or SC-derived myoblast) as well as skeletal muscle regeneration. The mutant animals displayed apparently impaired regeneration capacity in adult muscle along with enhanced ER stress and elevated caspase 3 activity in Tmem16a−/− SC derived myoblasts. Blockade of either excessive ER stress or caspase 3 activity by small molecules significantly restored the inhibited myogenic differentiation of Tmem16a−/− SCs, indicating that excessive caspase 3 activity resulted from TMEM16A deletion contributes to the impaired muscle regeneration and the upstream regulator of caspase 3 was ER stress. Our results revealed an essential role of TMEM16A in satellite cell-mediated skeletal muscle regeneration by ensuring a moderate level of caspase 3 activity.
The geographical distribution of scorpions, implication of venom toxins, envenomation, and potential therapeutics in Southern and Northern Africa
Authors: Mabunda Isac G , Zinyemba Nodji K , Pillay Shanelle , Offor Benedict C , Muller Beric , Piater Lizelle A 
Published: August 2024

Abstract
Scorpions are predatory arachnids whose venomous sting primarily affects people in tropical and subtropical regions. Most scorpion stings can only cause localized pain without severe envenomation. Less than one-third of the stings cause systemic envenoming and possibly lead to death. About 350,000 scorpion stings in Northern Africa are recorded yearly, resulting in about 810 deaths. In Eastern/Southern Africa, there are about 79,000 stings recorded yearly, resulting in 245 deaths. Farmers and those living in poverty-stricken areas are among the most vulnerable to getting stung by scorpions. However, compared to adults, children are at greater risk of severe envenomation. Scorpion venom is made up of complex mixtures dominated by peptides and proteins that confer its potency and toxicity. These venom toxins have intra- and interspecies variations associated with the scorpion’s habitat, sex, diet, and age. These variations alter the activity of antivenoms used to treat scorpion sting envenomation. Thus, the study of the proteome composition of medically important scorpion venoms needs to be scaled up along their geographical distribution and contributions to envenomation in Southern and Northern Africa. This will help the production of safer, more effective, and broad-spectrum antivenoms within these regions. Here, we review the clinical implications of scorpion sting envenomation in Southern and Northern Africa. We further highlight the compositions of scorpion venoms and tools used in scorpion venomics. We discuss current antivenoms used against scorpion sting envenomation and suggestions for future production of better antivenoms or alternatives. Finally, we discuss the therapeutic properties of scorpion venom.
Dose-dependent regulation of immune memory responses against HIV by saponin monophosphoryl lipid A nanoparticle adjuvant
Authors: Ramezani-Rad Parham , Marina-Zárate Ester , Maiorino Laura , Myers Amber , Michaels Katarzyna Kaczmarek , Pires Ivan S , Bloom Nathaniel I , Lopez Paul G , Cottrell Christopher A , Burton Iszac , Groschel Bettina , Pradhan Arpan , Stiegler Gabriela , Budai Magdolna , Kumar Daniel , Pallerla Sam , Sayeed Eddy , Sagar Sangeetha L , Kasturi Sudhir Pai , Van Rompay Koen K A , Hangartner Lars , Wagner Andreas , Burton Dennis R , Schief William R , Crotty Shane , Irvine Darrell J 
Published: August 2024

AbstractThe induction of durable protective immune responses is the main goal of prophylactic vaccines, and adjuvants play an important role as drivers of such responses. Despite advances in vaccine strategies, a safe and effective HIV vaccine remains a significant challenge. The use of an appropriate adjuvant is crucial to the success of HIV vaccines. Here we assessed the saponin/MPLA nanoparticle (SMNP) adjuvant with an HIV envelope (Env) trimer, evaluating the safety and impact of multiple variables including adjuvant dose (16-fold dose range), immunization route, and adjuvant composition on the establishment of Env-specific memory T and B cell responses (TMemand BMem) and long-lived plasma cells in non-human primates. Robust BMemwere detected in all groups, but a 6-fold increase was observed in the highest SMNP dose group vs. the lowest dose group. Similarly, stronger vaccine responses were induced in the highest SMNP dose for CD40L+OX40+CD4 TMem(11-fold), IFNγ+CD4 TMem(15-fold), IL21+CD4 TMem(9-fold), circulating TFH(3.6-fold), bone marrow plasma cells (7-fold), and binding IgG (1.3-fold). Substantial tier-2 neutralizing antibodies were only observed in the higher SMNP dose groups. These investigations highlight the dose-dependent potency of SMNP in non-human primates, which are relevant for human use and next-generation vaccines.
tp53R217H and R242H Mutant Zebrafish Exhibit Dysfunctional p53 Hallmarks and Recapitulate Li-Fraumeni Syndrome Phenotypes
Authors: Kobar Kim , Tuzi Lissandra , Burnley Erin , Fiene Jennifer A. , Galpin Kristianne J. C. , Midgen Craig , Laverty Brianne , Subasri Vallijah , Wen Timmy T. , Hirst Martin , Moksa Michelle , Carles Annaick , Cao Qi , Shlien Adam , Malkin David , Prykhozhij Sergey V. , Berman Jason N. 
Published: August 2024

AbstractLi-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with a highly penetrant cancer spectrum characterized by germlineTP53mutations. We characterized the first LFS zebrafish hotspot mutants,tp53R217H and R242H (human R248H and R273H), and found these mutants exhibit partial-to-no activation of p53 target genes, have a defective G1 cell-cycle checkpoint, and are resistant to apoptosis. Spontaneous tumor development histologically resembling human sarcomas developed as early as 6 months.tp53R242H mutants had a higher lifetime tumor incidence compared totp53null and R217H mutants, suggesting it is a more aggressive mutation. We observed mutation-specific tumor phenotypes acrosstp53mutants with associated diverse transcriptomic and DNA methylome profiles, impacting metabolism, cell signalling, and biomacromolecule synthesis and degradation. Thesetp53zebrafish mutants demonstrate fidelity to their human counterparts and provide new insights into underlying tumorigenesis mechanisms and kinetics, which will guide targeted therapeutics for LFS.
Integration of sensory and fear memories in the rat medial temporal lobe: advancing research by Wong et al. (2019)
Authors: Wong Francesca S. , Thomas Alina B. , Killcross Simon , Laurent Vincent , Westbrook R. Frederick , Holmes Nathan M. 
Published: August 2024

ABSTRACTWong et al. (2019) used a sensory preconditioning protocol to examine how sensory and fear memories are integrated in the rat medial temporal lobe. In this protocol, rats integrate a sound-light (sensory) memory that forms in stage 1 with a light-shock (fear) memory that forms in stage 2 to generate fear responses (freezing) across test presentations of the sound in stage 3. Here, we advance this research by showing that: 1) how/when rats integrate the sound-light and light-shock memories (online in stage 2 or at test in stage 3) changes with the number of sound-light pairings in stage 1; and 2) regardless of how/when it occurs, the integration requires communication between two regions of the medial temporal lobe: the perirhinal cortex and basolateral amygdala complex. Thus, “event familiarity” determines how/when sensory and fear memories are integrated but not the circuitry by which the integration occurs: this remains the same.
Effects of healthy aging on tongue-jaw kinematics during feeding behavior in rhesus macaques
Authors: Punacha Shreyas , Huang Kevin , Arce-McShane Fritzie I. 
Published: August 2024

AbstractSeveral age-related oral health problems have been associated with neurodegenerative diseases such as Alzheimer’s Disease (AD), yet how oromotor dysfunction in healthy aging differ from those found in pathological aging is still unknown. This is partly because changes in the cortical and biomechanical (“neuromechanical”) control of oromotor behavior in healthy aging are poorly understood. To this end, we investigated the natural feeding behavior of young and aged rhesus macaques (Macaca mulatta) to understand the age-related differences in tongue and jaw kinematics. We tracked tongue and jaw movements in 3Dusing high-resolution biplanar videoradiography and X-ray Reconstruction of Moving Morphology (XROMM). Older subjects exhibited a reduced stereotypy in tongue movements during chews and a greater lag in tongue movements relative to jaw movements compared to younger subjects. Overall, our findings reveal age-related changes in tongue and jaw kinematics, which may indicate impaired tongue-jaw coordination. Our results have important implications for the discovery of potential neuromechanical biomarkers for early diagnosis of AD.