bluuebunny/crossref_metadata_2025 huggingface dataset:
Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms
Authors: Zheng Yiqiao , Sun Chi , Zhang Xiaodong , Ruzycki Philip A , Chen Shiming
Published: November 2023

Homeodomain transcription factors (HD TFs) are instrumental to vertebrate development. Mutations in HD TFs have been linked to human diseases, but their pathogenic mechanisms remain elusive. Here, we use Cone-Rod Homeobox (CRX) as a model to decipher the disease-causing mechanisms of two HD mutations, p.E80A and p.K88N, that produce severe dominant retinopathies. Through integrated analysis of molecular and functional evidence in vitro and in knock-in mouse models, we uncover two novel gain-of-function mechanisms: p.E80A increases CRX-mediated transactivation of canonical CRX target genes in developing photoreceptors; p.K88N alters CRX DNA-binding specificity resulting in binding at ectopic sites and severe perturbation of CRX target gene expression. Both mechanisms produce novel retinal morphological defects and hinder photoreceptor maturation distinct from loss-of-function models. This study reveals the distinct roles of E80 and K88 residues in CRX HD regulatory functions and emphasizes the importance of transcriptional precision in normal development.
Mechanism of substrate binding and transport in BASS transporters
Authors: Becker Patrick , Naughton Fiona , Brotherton Deborah , Pacheco-Gomez Raul , Beckstein Oliver , Cameron Alexander D
Published: November 2023

The bile acid sodium symporter (BASS) family transports a wide array of molecules across membranes, including bile acids in humans, and small metabolites in plants. These transporters, many of which are sodium-coupled, have been shown to use an elevator mechanism of transport, but exactly how substrate binding is coupled to sodium ion binding and transport is not clear. Here, we solve the crystal structure at 2.3 Å of a transporter from Neisseria meningitidis (ASBTNM) in complex with pantoate, a potential substrate of ASBTNM. The BASS family is characterised by two helices that cross-over in the centre of the protein in an arrangement that is intricately held together by two sodium ions. We observe that the pantoate binds, specifically, between the N-termini of two of the opposing helices in this cross-over region. During molecular dynamics simulations the pantoate remains in this position when sodium ions are present but is more mobile in their absence. Comparison of structures in the presence and absence of pantoate demonstrates that pantoate elicits a conformational change in one of the cross-over helices. This modifies the interface between the two domains that move relative to one another to elicit the elevator mechanism. These results have implications, not only for ASBTNM but for the BASS family as a whole and indeed other transporters that work through the elevator mechanism.
Cue- versus reward-encoding basolateral amygdala projections to nucleus accumbens
Authors: He Yi , Huang Yanhua H , Schlüter Oliver M , Dong Yan
Published: November 2023

In substance use disorders, drug use as unconditioned stimulus (US) reinforces drug taking. Meanwhile, drug-associated cues (conditioned stimulus [CS]) also gain incentive salience to promote drug seeking. The basolateral amygdala (BLA) is implicated in both US- and CS-mediated responses. Here, we show that two genetically distinct BLA neuronal types, expressing Rspo2 versus Ppp1r1b, respectively, project to the nucleus accumbens (NAc) and form monosynaptic connections with both dopamine D1 and D2 receptor-expressing neurons. While intra-NAc stimulation of Rspo2 or Ppp1r1b presynaptic terminals establishes intracranial self-stimulation (ICSS), only Ppp1r1b-stimulated mice exhibit cue-induced ICSS seeking. Furthermore, increasing versus decreasing the Ppp1r1b-to-NAc, but not Rspo2-to-NAc, subprojection increases versus decreases cue-induced cocaine seeking after cocaine withdrawal. Thus, while both BLA-to-NAc subprojections contribute to US-mediated responses, the Ppp1r1b subprojection selectively encodes CS-mediated reward and drug reinforcement. Such differential circuit representations may provide insights into precise understanding and manipulation of drug- versus cue-induced drug seeking and relapse.
Systems genetics approaches for understanding complex traits with relevance for human disease
Authors: Allayee Hooman , Farber Charles R , Seldin Marcus M , Williams Evan Graehl , James David E , Lusis Aldons J
Published: November 2023

Quantitative traits are often complex because of the contribution of many loci, with further complexity added by environmental factors. In medical research, systems genetics is a powerful approach for the study of complex traits, as it integrates intermediate phenotypes, such as RNA, protein, and metabolite levels, to understand molecular and physiological phenotypes linking discrete DNA sequence variation to complex clinical and physiological traits. The primary purpose of this review is to describe some of the resources and tools of systems genetics in humans and rodent models, so that researchers in many areas of biology and medicine can make use of the data.
Prior probability cues bias sensory encoding with increasing task exposure
Authors: Walsh Kevin , McGovern David P , Dully Jessica , Kelly Simon P , O'Connell Redmond G
Published: November 2023

When observers have prior knowledge about the likely outcome of their perceptual decisions, they exhibit robust behavioural biases in reaction time and choice accuracy. Computational modelling typically attributes these effects to strategic adjustments in the criterion amount of evidence required to commit to a choice alternative - usually implemented by a starting point shift - but recent work suggests that expectations may also fundamentally bias the encoding of the sensory evidence itself. Here, we recorded neural activity with EEG while participants performed a contrast discrimination task with valid, invalid, or neutral probabilistic cues across multiple testing sessions. We measured sensory evidence encoding via contrast-dependent steady-state visual-evoked potentials (SSVEP), while a read-out of criterion adjustments was provided by effector-selective mu-beta band activity over motor cortex. In keeping with prior modelling and neural recording studies, cues evoked substantial biases in motor preparation consistent with criterion adjustments, but we additionally found that the cues produced a significant modulation of the SSVEP during evidence presentation. While motor preparation adjustments were observed in the earliest trials, the sensory-level effects only emerged with extended task exposure. Our results suggest that, in addition to strategic adjustments to the decision process, probabilistic information can also induce subtle biases in the encoding of the evidence itself.
Neuron-specific RNA-sequencing reveals different responses in peripheral neurons after nerve injury
Authors: Bolívar Sara , Sanz Elisenda , Ovelleiro David , Zochodne Douglas W , Udina Esther
Published: November 2023

Peripheral neurons are heterogeneous and functionally diverse, but all share the capability to switch to a pro-regenerative state after nerve injury. Despite the assumption that the injury response is similar among neuronal subtypes, functional recovery may differ. Understanding the distinct intrinsic regenerative properties between neurons may help to improve the quality of regeneration, prioritizing the growth of axon subpopulations to their targets. Here, we present a comparative analysis of regeneration across four key peripheral neuron populations: motoneurons, proprioceptors, cutaneous mechanoreceptors, and nociceptors. Using Cre/Ai9 mice that allow fluorescent labeling of neuronal subtypes, we found that nociceptors showed the greater regeneration after a sciatic crush, followed by motoneurons, mechanoreceptors, and, finally, proprioceptors. By breeding these Cre mice with Ribotag mice, we isolated specific translatomes and defined the regenerative response of these neuronal subtypes after axotomy. Only 20% of the regulated genes were common, revealing a diverse response to injury among neurons, which was also supported by the differential influence of neurotrophins among neuron subtypes. Among differentially regulated genes, we proposed MED12 as a specific regulator of the regeneration of proprioceptors. Altogether, we demonstrate that the intrinsic regenerative capacity differs between peripheral neuron subtypes, opening the door to selectively modulate these responses.
Regulation of phage lambda packaging motor-DNA interactions: Nucleotide independent and dependent gripping and friction
Authors: Rawson Brandon , Ordyan Mariam , Yang Qin , Sippy Jean , Feiss Michael , Catalano Carlos E. , Smith Douglas E.
Published: November 2023

Many dsDNA viruses utilize ATP-powered “terminase” motors to package their genomes into procapsid shells. Here we use a single-molecule DNA grip/slip assay with rapid solution exchange to probe effects of nucleotide binding/dissociation in phage lambda motors containing both the large (TerL) and small (TerS) terminase subunits. Both subunits are required for packaging in vivo, but for some viruses (e.g., phages T4, HK97) packaging can be measured in vitro with only the catalytic TerL subunit. TerS facilitates initiation of packaging in vivo, but it has remained unclear if it plays any role during translocation. Surprisingly we measure frequent DNA gripping and high motor-DNA friction even in the absence of nucleotide. Such behavior was not observed in phage T4 motors containing only TerL, for which motor-DNA interactions were measured to be much weaker and significant gripping and friction was only observed with nucleotide present. For the lambda TerL/TerS holoenzyme, binding of nucleotide (ATP analogs or ADP) further increases gripping and friction, indicating there are both nucleotide independent and dependent interactions. Our findings suggest that TerS plays an important role in motor processivity, and that ATP-independent DNA gripping explains pausing observed during lambda packaging. We propose TerS acts as a “sliding clamp” to limit back slipping when TerL loses grip. Additionally, we show that the lambda packaging complex has a “DNA end clamp” mechanism that prevents the viral genome from completely exiting the capsid once packaging has initiated.
Plasma thrombin-activatable fibrinolysis inhibitor and the 1040C/T polymorphism are risk factors for diabetic kidney disease in Chinese patients with type 2 diabetes
Authors: Huang Qinghua , Feng Dujin , Pan Lianlian , Wang Huan , Wu Yan , Zhong Bin , Gong Jianguang , Lin Huijun , Fei Xianming
Published: November 2023

Background

Inflammatory and hemostatic disorders in diabetic microangiopathy (DMA) can be linked to thrombin-activatable fibrinolysis inhibitor (TAFI) and its own gene polymorphisms. Thus, the study aimed to investigate the associations of plasma TAFI and gene polymorphisms with DMA in Chinese patients with type 2 diabetes (T2D).

Methods

Plasma TAFI of 223 patients with T2D was measured, and the genotypes and alleles of the 1040C/T, 438G/A, and 505G/A polymorphisms of the TAFI gene were analyzed. A ROC curve was constructed to evaluate the identifying power of TAFI between patients with T2D and DMA, and logistic regression analysis was used to observe the correlation of plasma TAFI and gene polymorphisms with the risk for DMA.

Results

Plasma TAFI was higher in patients with DMA than in patients with only T2D (p < 0.05). TAFI exhibited the largest area under ROC in identifying diabetic kidney disease (DKD) from only T2D (0.763, 95% CI [0.674–0.853], p < 0.01), and adjusted multivariate analysis showed a high odds ratio (OR: 15.72, 95% CI [4.573–53.987], p < 0.001) for DKD. Higher frequencies of the CT genotype and T allele of the 1040C/T polymorphism were found in DKD compared with only T2D (respectively p < 0.05), and the CT genotype exhibited a high OR (1.623, 95% CI [1.173–2.710], p < 0.05) for DKD. DKD patients with the CT genotype had higher plasma TAFI levels, while T2D and DKD patients with CC/TT genotypes had lower plasma TAFI levels.

Conclusion

Plasma TAFI and the CT genotype and T allele of the 1040C/T polymorphism are independent risk factors for DKD in Chinese T2D patients.
Data mining reveals tissue-specific expression and host lineage-associated forms of Apis mellifera filamentous virus
Authors: Cornman Robert S.
Published: November 2023

Background

Apis mellifera filamentous virus (AmFV) is a large double-stranded DNA virus of uncertain phylogenetic position that infects honey bees (Apis mellifera). Little is known about AmFV evolution or molecular aspects of infection. Accurate annotation of open-reading frames (ORFs) is challenged by weak homology to other known viruses. This study was undertaken to evaluate ORFs (including coding-frame conservation, codon bias, and purifying selection), quantify genetic variation within AmFV, identify host characteristics that covary with infection rate, and examine viral expression patterns in different tissues.

Methods

Short-read data were accessed from the Sequence Read Archive (SRA) of the National Center for Biotechnology Information (NCBI). Sequence reads were downloaded from accessions meeting search criteria and scanned for kmers representative of AmFV genomic sequence. Samples with kmer counts above specified thresholds were downloaded in full for mapping to reference sequences and de novo assembly.

Results

At least three distinct evolutionary lineages of AmFV exist. Clade 1 predominates in Europe but in the Americas and Africa it is replaced by the other clades as infection level increases in hosts. Only clade 3 was found at high relative abundance in hosts with African ancestry, whereas all clades achieved high relative abundance in bees of non-African ancestry. In Europe and Africa, clade 2 was generally detected only in low-level infections but was locally dominant in some North American samples. The geographic distribution of clade 3 was consistent with an introduction to the Americas with ‘Africanized’ honey bees in the 1950s. Localized genomic regions of very high nucleotide divergence in individual isolates suggest recombination with additional, as-yet unidentified AmFV lineages. A set of 155 high-confidence ORFs was annotated based on evolutionary conservation in six AmFV genome sequences representative of the three clades. Pairwise protein-level identity averaged 94.6% across ORFs (range 77.1–100%), which generally exhibited low evolutionary rates and moderate to strong codon bias. However, no robust example of positive diversifying selection on coding sequence was found in these alignments. Most of the genome was detected in RNA short-read alignments. Transcriptome assembly often yielded contigs in excess of 50 kb and containing ORFs in both orientations, and the termini of long transcripts were associated with tandem repeats. Lower levels of AmFV RNA were detected in brain tissue compared to abdominal tissue, and a distinct set of ORFs had minimal to no detectable expression in brain tissue. A scan of DNA accessions from the parasitic mite Varroa destructor was inconclusive with respect to replication in that species.

Discussion

Collectively, these results expand our understanding of this enigmatic virus, revealing transcriptional complexity and co-evolutionary associations with host lineage.
Modulación del procesamiento de la proteína precursora del amiloide por la tirosina quinasa C-ABL y su implicancia en la enfermedad de Niemann-Pick tipo C /
Authors:   , Yáñez Henríquez María José
Published: November 2023

La enfermedad de Niemann-Pick tipo C (NPC) es un desorden hereditario autosómico recesivo causado por mutaciones en dos genes que codifican para las proteínas NPC1 y NPC2. Estas proteínas participan en el tráfico intracelular de lípidos y su deficiencia causa la acumulación de colesterol en los lisosomas. Sorpresivamente en distintas regiones del SNC de pacientes NPC, se han detectado aumentos del péptido β-amiloide (Aβ), el elemento patogénico causante de la pérdida sináptica y la muerte neuronal en la Enfermedad de Alzheimer (EA). Estudios in vitro e in vivo indican de que la pérdida de NPC1 conduce a un aumento significativo en los niveles de βCTF y sAPPβ. Resultados de nuestro laboratorio indican que la quinasa c-Abl se encuentra activada en la enfermedad de NPC. Además, c-Abl interactúa y fosforila la proteína precursora amiloide (APP), sin embargo, la relevancia de esta interacción no se ha definido aun. En este trabajo, se observó que la inhibición de c-Abl, mediante el uso de Imatinib un inhibidor específico de c-Abl o expresando un ARN interferente (shRNA) específico para c-Abl, reduce los niveles de Aβ y βCTF y aumenta los niveles de sAPPα en células deficientes de NPC1 que sobreexpresan APP. Consistentemente el tratamiento con Imatinib resultó en una disminución en el procesamiento amiloidogénico de APP en ratones nulos para NPC1. Por otra parte, también encontramos disminución de los niveles de βCTF en cultivos de neuronas corticales derivadas de ratones c-Ablfloxo/floxo Nestin Cre (neuronas nulas para c-Abl).Además, encontramos que c-Abl interactúa con APP y que el motivo -YENP- en la cola citoplásmica de APP es esencial para su interacción con c-Abl. Mediante el uso de imágenes de fluorescencia de vida media (FLIM), se observó que Imatinib redujo significativamente la interacción de APP con c-Abl. Sin embargo, más relevante fue que se observó que la inhibición de c-Abl reduce la interacción de APP con BACE1, lo que es consistente con que c-Abl potencia la interacción APP-BACE1 y promueve el procesamiento amiloidogénico de APP y la secreción de Aβ en modelos de NPC. En este trabajo, nosotros reportamos que específicamente la mutación Y682A afecta a la formación del complejo de APP con BACE1. Estos resultados dan nuevos antecedentes para comprender el papel desempeñado por c-Abl en su interacción con APP y en la progresión de la degeneración neuronal. Además, muestran el papel crucial que desempeña el residuo Tyr682 en el control del procesamiento de APP en las células.
Unveiling the Sustainability of Lean Production
Authors: Kaban Lila Maria
Published: November 2023

For many decades, the lean concept has been praised for improving efficiency, maximizing productivity, and minimizing waste in manufacturing operations. Lean production is expected to create an industrial ecosystem that is more cost-efficient and accountable for optimizing resources and processes. However, in the context of lean manufacturing, new challenges have emerged as a result of the recent emphasis on sustainability. This study aims to show several criticisms of lean implementation and propose a holistic approach to achieve a more sustainable operation. The green-lean model, sustainable manufacturing, agile supply, and Lean 4.0, are approaches for integrating lean practices and sustainability. This will foster a culture of continuous improvement, employee empowerment, long-term collaboration with suppliers, added value for customers, and increased innovation in the economy.
The COVID‐19 pandemic disrupted the healthy fading of emotions in autobiographical memory mediated via in‐person social disclosures
Authors: Muir Kate , Brown Charity
Published: November 2023

We explore the impact of the COVID‐19 pandemic in the United Kingdom upon the fading affect bias in autobiographical memory, which describes the greater fading of negative emotional intensity over time compared to positive. Across two studies we show that the magnitude of the FAB is smaller for pandemic‐related events compared to pandemic‐unrelated events. The FAB is thought to represent the result of healthy coping processes operating on autobiographical memory and our results indicate that these processes were disrupted, to a certain extent, by the pandemic. These effects were mediated by frequent in‐person social disclosures of pleasant pandemic‐unrelated events, which was, in turn, associated with less fading of positive affect. Further, the FAB for both pandemic‐related and unrelated events was mediated by disclosures via social media. Together, these results highlight the potential effectiveness of using various modes of communication to facilitate emotional regulation processes in autobiographical memory.
Deformation Behavior and Microstructural Evolution of Zr–Sn–Nb–Fe Alloy over a Wide Temperature Range Based on the Law of Mixture
Authors: Li Ping , Wang Haixiang , Guo Yashan , Zhang Ao , Xue Kemin
Published: November 2023

Isothermal compression experiments are conducted on Zr–Sn–Nb–Fe alloy at temperature ranging from 873 to 1273 K and strain rates ranging from 0.01 to 1 s−1. The deformation behavior and microstructure evolution are analyzed. The results show that the influence of α phase on the flow stress is more significant than β phase, which shows a stronger phase sensitivity. At low strain rates in the α phase temperature region (873 K), the dominant softening mechanism is dynamic recovery, while at high strain rates, it is controlled by dynamic recrystallization. The dual‐phase temperature region (973–1173 K) undergoes the dynamic recrystallization of α and α→β phase transformation. The dynamic recrystallization of β occurs in the β phase temperature region (1213–1273 K). Finally, by considering the phase composition and phase sensitivity differences, a unified constitutive model of N36 zirconium alloy from 873 to 1273 K is established whose absolute relative error is 7% and R is 0.9906.
Review—Extremely Thin Amorphous Indium Oxide Transistors
Authors: Charnas Adam , Zhang Zhuocheng , Lin Zehao , Zheng Dongqi , Zhang Jie , Si Mengwei , Ye Peide D.
Published: November 2023

Amorphous oxide semiconductor transistors have been a mature technology in display panels for upward of a decade, and have recently been considered as promising back‐end‐of‐line compatible channel materials for monolithic 3D applications. However, achieving high‐mobility amorphous semiconductor materials with comparable performance to traditional crystalline semiconductors has been a long‐standing problem. Recently it has been found that greatly reducing the thickness of indium oxide, enabled by an atomic layer deposition (ALD) process, can tune its material properties to achieve high mobility, high drive current, high on/off ratio, and enhancement‐mode operation at the same time, beyond the capabilities of conventional oxide semiconductor materials. In this work, the history leading to the re‐emergence of indium oxide, its fundamental material properties, growth techniques with a focus on ALD, state‐of‐the‐art indium oxide device research, and the bias stability of the devices are reviewed.
The Material World of 3D‐Bioprinted and Microfluidic‐Chip Models of Human Liver Fibrosis
Authors: Carvalho Ana Margarida , Bansal Ruchi , Barrias Cristina C. , Sarmento Bruno
Published: November 2023

Biomaterials are extensively used to mimic cell–matrix interactions, which are essential for cell growth, function, and differentiation. This is particularly relevant when developing in vitro disease models of organs rich in extracellular matrix, like the liver. Liver disease involves a chronic wound‐healing response with formation of scar tissue known as fibrosis. At early stages, liver disease can be reverted, but as disease progresses, reversion is no longer possible, and there is no cure. Research for new therapies is hampered by the lack of adequate models that replicate the mechanical properties and biochemical stimuli present in the fibrotic liver. Fibrosis is associated with changes in the composition of the extracellular matrix that directly influence cell behavior. Biomaterials could play an essential role in better emulating the disease microenvironment. In this paper, the recent and cutting‐edge biomaterials used for creating in vitro models of human liver fibrosis are revised, in combination with cells, bioprinting, and/or microfluidics. These technologies have been instrumental to replicate the intricate structure of the unhealthy tissue and promote medium perfusion that improves cell growth and function, respectively. A comprehensive analysis of the impact of material hints and cell–material interactions in a tridimensional context is provided.
Accessing Indenoazulenes via a Gold‐Catalysed Cyclisation of Cycloheptatrienyl‐Substituted 1,5‐Diynes
Authors: Mackenroth Alexandra V. , Ahrens Alexander , Wunsch Jonas F. , Berger Raphael , Rominger Frank , Rudolph Matthias , Hashmi A. Stephen K.
Published: November 2023

Herein we report that cycloheptatrienyl‐substituted 1,5‐diynes with aromatic backbones undergo a gold‐catalysed 5‐endo‐dig cyclisation to give 11H‐indeno‐[2,1‐a]azulenes at room temperature. This methodology complements the established range of aromatic structures obtained from gold‐catalysed conversions of differently substituted 1,5‐diynes accessed via highly reactive cationic intermediates. We have demonstrated the scope of the reaction and have assessed the possibility of further functionalisation of the indenoazulene scaffold. Additionally, we have studied the optical and electrochemical properties as well as the frontier molecular orbitals of this structural motif by both spectroscopic and theoretical means.
A Pyrazine‐Pyridinamine Covalent Organic Framework as a Low Potential Anode for Highly Durable Aqueous Calcium‐Ion Batteries
Authors: Wang Chunfang , Li Ran , Zhu Yuchao , Wang Yaxin , Lin Yilun , Zhong Leheng , Chen Hui , Tang Zijie , Li Hongfei , Liu Feng , Zhi Chunyi , Lv Haiming
Published: November 2023

Rechargeable aqueous calcium‐ion batteries (CIBs) are promising for reliable large‐scale energy storage. However, they face significant challenges, primarily stemming from suboptimal anodes, resulting in unfavorable voltage profiles, limited capacity, and diminished durability, all of which hinder the development of CIBs. Here, a covalent organic framework (PTHAT‐COF) featuring repeated pyrazine and pyridinamine units, employed as the anode material for aqueous CIBs, is introduced. This innovative approach results in a remarkably flat ultralow potential plateau ranging from −0.6 to −1.05 V (vs Ag/AgCl), attributed to the high level of the lowest unoccupied molecular orbital. Furthermore, the PTHAT‐COF anode exhibits outstanding rate performance (152.3 mAh g−1 @ 1 A g−1), exceptional long‐term cycling stability, and remarkable capacity retention (10 000 cycles with 89.9% retention). Mechanistic studies, including experimental and theoretical calculations, reveal that C═N active sites reversibly trap Ca2+ ions via chemisorption during the discharging/charging process. The PTHAT‐COF demonstrates exceptional structural stability throughout cycling. Finally, by pairing PTHAT‐COF with a high‐voltage manganese‐based Prussian blue cathode, a complete aqueous CIB with a voltage interval of 2.2 V is achieved, exhibiting extraordinary durability (10 000 cycles with 83.6% retention). This research illuminates the potential of organic anode materials in aqueous batteries to achieve higher battery voltages.
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups
Authors: Sudnawa Khemika K. , Calamia Sean , Geltzeiler Alexa , Chung Wendy K.
Published: November 2023

Pathogenic variants in pleckstrin homology domain interacting protein (PHIP) are associated with Chung–Jansen syndrome characterized by developmental delay, intellectual disability, behavioral challenges, hypotonia, obesity, and dysmorphic features. We report phenotypes and genotypes of 47 individuals with likely pathogenic/pathogenic PHIP variants. Variants were de novo in 61.7%, unknown inheritance in 29.8%, and inherited in 8.5%. The median age of the individuals was 10.9 years, approximately equally divided by sex. Individuals in this cohort frequently had a history of developmental delay (85.1%), attention‐deficit/hyperactivity disorder (51.1%), anxiety (46.8%), depression (27.7%), and sleep difficulties (42.6%). Depression was significantly higher in the older age group (>12 years old). Most individuals had moderately low adaptive functioning based on the Vineland‐3 (mean = 76.8, standard deviation = 12.0). Overall, 55.8% of individuals were obese/overweight. The percentage of obese individuals was greater in the older age group (>12 years old) and evolves over time. Other common symptoms were hypotonia (78.7%), constipation (48.9%), visual problems (66%), and cryptorchidism (39.1% of males). Our findings provide additional natural history data for Chung–Jansen syndrome and provide opportunities for early intervention of healthy eating habits and awareness of developing mood and behavioral challenges over the life course.
Eat the fruit earlier: Sakis (Pithecia chrysocephala) show enhanced temporal fruit resource access compared with squirrel monkeys (Saimiri sciureus) in an urban forest fragment in Brazil
Authors: Take Makiko , Yumoto Takakazu , Barnett Adrian A. , Onizawa Kota , Spironello Wilson R.
Published: November 2023

Fruit availability experienced by different primate species is likely to vary due to species‐specific fruit use, even within the same habitat and timeframe. Pitheciines, primates of the subfamily Pitheciinae, particularly favor the seeds of unripe fruits. Researchers consider this dietary characteristic an adaptation to increase access to fruit resources. However, the relative advantages of pitheciines over sympatric non‐pitheciine non‐seed‐eating primates regarding species‐specific fruit availability is not well studied. In a 26‐ha forest within the city of Manaus, Amazonian Brazil, we assessed the wild‐food feeding behavior of free‐ranging groups of golden‐faced sakis (Pithecia chrysocephala) and sympatric common squirrel monkeys (Saimiri sciureus). We hypothesized that sakis would have greater and more consistent access to wild fruit due to (1) a wider variety of fruit species in their diet, and (2) longer consumption periods per fruit species. We recorded the plant species, part (pulp or seed), and developmental stage (ripe or unripe) of wild fruit consumed by both species. We also conducted monthly fruit censuses of 1000 trees and vines to estimate overall wild fruit abundance. As an indicator of fruit availability, we calculated the proportion of available fruiting trees and vines for each primate species separately based on their observed diet. Throughout the year, the proportion of available trees and vines was significantly higher and more temporally stable for sakis than for squirrel monkeys. This was because sakis used shared fruit species longer than squirrel monkeys by consuming both ripe and unripe fruit. Although sakis had a broader fruit repertoire than squirrel monkeys, it did not contribute to the higher fruit availability. Thus, the fruit feeding system of sakis identifies aspects of a niche that is less restricted in the timing of fruit consumption, which led to a relative advantage in fruit availability.
Hippocampal Perfusion Affects Motor and Cognitive Functions in Parkinson Disease: An Early Phase 18F‐FP‐CIT Positron Emission Tomography Study
Authors: Chun Min Young , Chung Seok Jong , Kim Su Hong , Park Chan Wook , Jeong Seong Ho , Lee Hye Sun , Lee Phil Hyu , Sohn Young H. , Jeong Yong , Kim Yun Joong
Published: November 2023

Objective

We investigated whether hippocampal perfusion changes are associated with cognitive decline, motor deficits, and the risk of dementia conversion in patients with Parkinson disease (PD).

Methods

We recruited patients with newly diagnosed and nonmedicated PD and healthy participants who underwent dual phase 18F‐N‐(3‐fluoropropyl)‐2β‐carboxymethoxy‐3β‐(4‐iodophenyl) nortropane positron emission tomography scans. Patients were classified into 3 groups according to hippocampal perfusion measured by standard uptake value ratios (SUVRs): (1) PD hippocampal hypoperfusion group (1 standard deviation [SD] below the mean hippocampal SUVR of healthy controls; PD‐hippo‐hypo), (2) PD hippocampal hyperperfusion group (1 SD above the mean; PD‐hippo‐hyper), and (3) the remaining patients (PD‐hippo‐normal). We compared the baseline cognitive performance, severity of motor deficits, hippocampal volume, striatal dopamine transporter (DAT) availability, and risk of dementia conversion among the groups.

Results

We included 235 patients (PD‐hippo‐hypo, n = 21; PD‐hippo‐normal, n = 157; PD‐hippo‐hyper, n = 57) and 48 healthy participants. Patients in the PD‐hippo‐hypo group were older and had smaller hippocampal volumes than those in the other PD groups. The PD‐hippo‐hypo group showed less severely decreased DAT availability in the putamen than the other groups despite similar severities of motor deficit. The PD‐hippo‐hypo group had a higher risk of dementia conversion compared to the PD‐hippo‐normal (hazard ratio = 2.59, p = 0.013) and PD‐hippo‐hyper (hazard ratio = 3.73, p = 0.006) groups, despite similar cognitive performance at initial assessment between groups.

Interpretation

Hippocampal hypoperfusion may indicate a reduced capacity to cope with neurodegenerative processes in terms of the development of motor deficits and cognitive decline in patients with PD. ANN NEUROL 2024;95:388–399
Determinants of Functional Outcome after Pediatric Hemispherotomy
Authors: Ramantani Georgia , Cserpan Dorottya , Tisdall Martin , Otte Willem M. , Dorfmüller Georg , Cross J. Helen , van Schooneveld Monique , van Eijsden Pieter , Nees Frauke , Reuner Gitta , Krayenbühl Niklaus , Zentner Josef , Bulteau Christine , Braun Kees P. J.
Published: November 2023

Objective

We aimed to evaluate determinants of functional outcome after pediatric hemispherotomy in a large and recent multicenter cohort.

Methods

We retrospectively investigated the functional outcomes of 455 children who underwent hemispherotomy at 5 epilepsy centers in 2000–2016. We identified determinants of unaided walking, voluntary grasping with the hemiplegic hand, and speaking through Bayesian multivariable regression modeling using missing data imputation.

Results

Seventy‐five percent of children were seizure‐free, and 44% stopped antiseizure medication at a 5.1‐year mean follow‐up (range = 1–17.1). Seventy‐seven percent of children could walk unaided, 8% could grasp voluntarily, and 68% could speak at the last follow‐up. Children were unlikely to walk when they had contralateral magnetic resonance imaging (MRI) abnormalities (40/73, p = 0.04), recurrent seizures following hemispherotomy (62/109, p = 0.04), and moderately (50/61, p = 0.03) or severely impaired (127/199, p = 0.001) postsurgical intellectual functioning, but were likely to walk when they were older at outcome determination (p = 0.01). Children were unlikely to grasp voluntarily with the hand contralateral to surgery when they had Rasmussen encephalitis (0/61, p = 0.001) or Sturge–Weber syndrome (0/32, p = 0.007). Children were unlikely to speak when they had contralateral MRI abnormalities (30/69, p = 0.002) and longer epilepsy duration (p = 0.01), but likely to speak when they had Sturge–Weber syndrome (29/35, p = 0.01), were older at surgery (p = 0.04), and were older at outcome determination (p < 0.001).

Interpretation

Etiology and bilaterality of structural brain abnormalities were key determinants of functional outcome after hemispherotomy. Longer epilepsy duration affected language outcomes. Not surprisingly, walking and talking ability increased with older age at outcome evaluation. ANN NEUROL 2024;95:377–387
Maturation of the [FeFe]‐Hydrogenase: Direct Transfer of the (κ3‐cysteinate)FeII(CN)(CO)2 Complex B from HydG to HydE
Authors: Omeiri Juneina , Martin Lydie , Usclat Anthony , Cherrier Mickael V. , Nicolet Yvain
Published: November 2023

[FeFe]‐hydrogenases efficiently catalyze the reversible oxidation of molecular hydrogen. Their prowess stems from the intricate H‐cluster, combining a [Fe4S4] center with a binuclear iron center ([2Fe]H). In the latter, each iron atom is coordinated by a CO and CN ligand, connected by a CO and an azadithiolate ligand. The synthesis of this active site involves a unique multiprotein assembly, featuring radical SAM proteins HydG and HydE. HydG initiates the transformation of L‐tyrosine into cyanide and carbon monoxide to generate complex B, which is subsequently transferred to HydE to continue the biosynthesis of the [2Fe]H‐subcluster. Due to its instability, complex B isolation for structural or spectroscopic characterization has been elusive thus far. Nevertheless, the use of a biomimetic analogue of complex B allowed circumvention of the need for the HydG protein during in vitro functional investigations, implying a similar structure for complex B. Herein, we used the HydE protein as a nanocage to encapsulate and stabilize the complex B product generated by HydG. Using X‐ray crystallography, we successfully determined its structure at 1.3 Å resolution. Furthermore, we demonstrated that complex B is directly transferred from HydG to HydE, thus not being released into the solution post‐synthesis, highlighting a transient interaction between the two proteins.
Selective fluorescence sensor for Fe3+ based on in situ synthesis of CsSnCl3 perovskite quantum dots with bone gelatin
Authors: Gao Dangge , Chen Zhixin , Zhang Ying , Lyu Bin , Bao Xin , Guo Xu , Ma Jianzhong
Published: November 2023

The sensors of perovskite quantum dots (QDs) based on Pb have gained more popularity in sensing applications. However, severely restricts any more practical uses because of the toxicity of Pb. In this study, we created an efficient in situ method to make bone gelatin‐CsSnCl3 QDs in 1‐allyl‐3‐methyl imidazole chloride ([AMIM]Cl), which were both very stable and environmentally benign. As a consequence, the relative photoluminescence intensity of bone gelatin‐CsSnCl3 QDs retained over 96% in water for 55 h, showing negligible degradation. The oxidation of Sn2+ in CsSnCl3 QDs was effectively prevented. The interaction strength of carboxyl, amino, and long molecule chains in bone gelatin and CsSnCl3 QDs was evaluated; the strongest binding force is between ‐COO− and CsSnCl3 QDs; and the weakest is between long molecular chains and CsSnCl3 QDs. Furthermore, bone gelatin‐CsSnCl3 QDs demonstrated good selectivity and a low detection limit for Fe3+ in aqueous solution (150 μM). The findings indicate that bone gelatin‐CsSnCl3 QDs have a bright future in the realm of fluorescence sensing.
Transformation of glucose to 5‐hydroxymethylfurfural with Al and Sn mixed‐metal metal–organic frameworks as catalyst
Authors: Zhang Yongzhao , Chen Xuzheng , Zhu Zhenya , Lv Luping
Published: November 2023

5‐hydroxymethylfurfural (5‐HMF) has been considered as an important biomass‐based platform chemical for its wide applications. Currently, the production of 5‐HMF from the catalytic dehydration of glucose is preferred, in which the Brønsted and Lewis acids in catalysts play an important role. Here, it was found that MIL‐53(Al) modified with tin was an active, selective, and reusable catalyst for the transformation of glucose to 5‐HMF in dimethyl sulfoxide (DMSO) solvent. Around 42.3% yield of 5‐HMF with 93% glucose conversion was achieved, when the prepared metal‐organic frameworks (MOFs) was used as the catalyst, showing superior catalytic performance compared with most of other MOFs. Moreover, the catalyst possessed inert catalytic properties in water with almost no any influence on the conversion of glucose, suggesting a compelling opportunity to act as a support material.
Machine learning‐assisted analysis and prediction for the thermal effect of various working fluids in a vortex tube
Authors: Wang Zheng , Li Nian , Zhong Jialun , Gao Neng , Guo Xiangji , Chen Guangming
Published: November 2023

With the widespread application of vortex tube in various fields, it becomes essential to quantitatively explore the separation effect of different fluids (natural fluids, hydrocarbons, etc.) within the vortex tube and to promote its utilization. A new approach has been developed in this study to establish quantitative models for predicting the thermal effects of different fluids in a vortex tube. These models are based on both the macro properties of the working fluid and micro molecular descriptor through a molecular scale. A dataset of 11 numerical simulation results of hydrocarbons and hydrofluorocarbons refrigerants is employed. Three operating conditions, 10 property parameters, and 115 molecular descriptors are screened and identified using random forest feature analysis. Two types of models (micro and macro) have been developed by employing artificial neural network (ANN) modeling techniques. In the result, four key influencing fluid property parameters (the specific heat ratio γ, the multiplication of heat capacity and the molar weight cp·M, the kinematic viscosity ν, and the thermal conductivity λ) and nine molecular descriptors in affecting the thermal effect are identified and respectively chosen as the input in the macro and the micro ANN model establishment. Both types of developed models show a high correlation coefficient (R > .999) and a comparatively low mean square error (MSE). When R600 is employed in the validation, most of the relative error is less than 10%, suggesting both types of models can work effectively in predicting the thermal effect for other fluid. The findings contribute to a deeper understanding of the thermodynamic effect of vortex tubes and provide a valuable tool for selecting and optimizing working fluids in various applications.
Observations on some reproductive features of the threatened limpet Patella ferruginea Gmelin, 1791 in north‐western Mediterranean Italian waters
Authors: Guallart Javier , Ferranti Maria Paola , Chiantore Mariachiara
Published: November 2023

Information about the reproductive biology of the threatened limpet Patella ferruginea has been historically restricted to some of the few enclaves where healthy and conspicuous populations still persist, all located on the African coasts of the Alboran Sea, at the extreme south west of the species’ distribution range, in the western basin of the Mediterranean.

This paper provides data on sex ratio by size and sex change of the species from specimens in the northernmost extreme of its distribution, between the north east of Sardinia (Italy) and the Gulf of Genoa (Liguria, Italy), where much more restricted and small populations are found.

In the study area, the population parameters were found to be quite similar to those known from the Alboran Sea: The ratio between males and females tends to decrease with size and the prevalence of females versus males (i.e. >50% females) from the 60–65 mm size class upwards.

Notwithstanding the small sample size (n = 13), several sex changes were observed in 38.5% of specimens. Noteworthy is that this change not only occurred in the male to female direction (considered ‘normal’ for limpet species) but was also recorded in the female to male direction, confirming the complexity of the reproductive mode of P. ferruginea.

The evidence of regular gonadal maturation of specimens and the occurrence of sex changes in the area investigated supports the potential viability of the species at its northernmost limit of distribution, where the species has only recently been reported. Such evidence provides important information for the implementation of management and conservation actions, such as restocking initiatives.
Die pH‐Abhängigkeit der Fluoreszenz von Naphthalinderivaten
Authors: Förster Th.
Published: November 2023

Die Unabhängigkeit der Umschläge von Fluoreszenz‐ und Absorptionsspektren beim Durchlaufen der pH‐Skala in wäßriger Lösung ist bei Erregung durch hinreichend kurzwelliges Licht auch an Naphtholen. Naphthylaminen und deren Sulfonsäuren zu beobachten. Die Erscheinungen lassen sich durch mehr oder weniger vollständige Einstellung der elektrolytischen Dissoziationsgleichgewichte während der Anregungsdauer erklären. Die Deutung der bei Sulfonsäuren aromatischer Amine in alkalischer Lösung beobachteten Fluoreszenzumschläge durch Dissoziation der Aminogruppen wird durch Untersuchungen an Dimethylaminosulfonsäuren bestätigt.
Über elektrochemische Grundbegriffe, insbesondere der Elektrode Metall/Lösung
Authors: Lange Erich
Published: November 2023

Eine unnötige, zum Teil verwirrende Vielfalt oder Unklarheit bisher verwendeter elektrochemischer Begriffe hat in zunehmendem Maße das Bedürfnis geweckt, soweit wie möglich auf freiwilliger Basis zu einer gewissen Einheitlichkeit in klaren Definitionen zu gelangen, was sich sicher zum Nutzen der elektrochemischen Forschung, des internationalen Gedankenaustausches und des Unterrichtes in der Elektrochemie auswirken müßte. Selbstverständlich wird man nicht leichtfertig von bewährten historischen Begriffen abweichen, aber andererseits kann eine Verbesserung des bisherigen unbefriedigenden Zustandes nur erreicht werden, wenn manche Gewohnheiten zugunsten ernster sachlicher Argumente zurücktreten. Dabei muß auf angrenzende Gebiete, z. B. der Elektronenemission, der thermoelektrischen Größen sowie auf gewisse elektrotechnische Gepflogenheiten hinreichende Rücksicht genommen werden. Diesem Ziel hat auch die diesjährige zweite Tagung des Internationalen Komitees für elektrochemische Thermodynamik und Kinetik in Mailand gebührende Aufmerksamkeit geschenkt.

Als Beitrag zu dieser nicht leichten, aber doch wichtigen Aufgabe möge nachstehend eine Reihe erprobter Definitionen zusammengestellt werden. Von zweitrangiger Bedeutung sind dabei die zwar auch bewährten, aber schließlich doch jeder einzelnen Sprache individuell anzupassenden Bezeichnungen und Symbole. Vor allem in bezug auf letztere kann es der Sache nur dienlich sein, wenn in einem internationalen Erfahrungsaustausch etwaige bessere Gegenvorschläge dem Verfasser mitgeteilt oder publiziert werden. Allerdings müßte stets geprüft werden, ob ein solcher Gegenvorschlag wirklich sachlich und logisch eine Verbesserung im gesamten System darstellt.

In sachlicher Hinsicht bedarf es dabei stets hinreichender Klarheit über die zugrunde liegenden Messungen und darauf fußenden Begriffe, insbesondere bezüglich der dabei vorkommenden Stoffe, Stoffänderungen, Energien, Energieänderungen, also der einschlägigen chemisch‐thermodynamischen Aussagen über Gleichgewichte und reversible Vorgänge. Damit lassen sich dann die darüber hinausgehenden irreversiblen Komplikationen der elektrochemischen Kinetik deutlich herausschälen.
Über das elektromotorische Verhalten von Eisen
Authors: Bonhoeffer K. F. , Jena W.
Published: November 2023

Es wurden Stromspannungskurven von 11 verschiedenen Eisensorten in sauren Elektrolytlösungen aufgenommen. Diese Kurven stellen eine Überlagerung einer Stromspannungskurve der kathodischen H2‐Entwicklung und einer Stromspannungskurve der anodischen Eisenauflösung dar. Mit analytischen Mikromethoden wurden diese Teilstromspannungskurven aufgenommen. Auch bei anodischer Polarisierung wird noch H2 entwickelt, auch bei kathodischer Polarisation geht noch Eisen in Lösung, und zwar läßt sich die Auflösung des Eisens bis zu dem Potential verfolgen, das dem reversiblen Eisenpotential entspricht. Der Polarisationswiderstand “equation” erwies sich als stark abhängig von der Eisensorte und zeigte einen eindeutigen Zusammenhang mit der Korrosionsgeschwindigkeit. Dies wird mit Hilfe der Teilstromspannungskurve gedeutet.

Elektrolytisch abgeschiedenes Eisen spricht reversibel konzentrationsrichtig auf Ferroionen an. Das Verhalten des Eisens wird qualitativ durch kinetische Auffassung des elektrochemischen Gleichgewichtes gedeutet.
Zur Thermodynamik von Mischphasen VIII Über das Verdampfungsgleichgewicht Methanol‐n‐Butylazetat
Authors: Sieg L. , Crützen J. L. , Jost W.
Published: November 2023

Im Rahmen unserer Untersuchungen zur Thermodynamik von Mischphasen wurden Gleichgewichts‐diagramme des Systems Methanol‐n‐Butylazetat bei mehreren Temperaturen aufgenommen und daraus die thermodynamischen Funktionen ermittelt. Diese wurden durch direkte Messung der Mischungswärmen und spezifischen Wärmen kontrolliert.