bluuebunny/crossref_metadata_2025_split huggingface dataset:
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models
Authors: Neri Irene , Ramazzotti Giulia , Mongiorgi Sara , Rusciano Isabella , Bugiani Marianna , Conti Luciano , Cousin Margot , Giorgio Elisa , Padiath Quasar S. , Vaula Giovanna , Cortelli Pietro , Manzoli Lucia , Ratti Stefano 
Published: July 2023

AbstractAutosomal dominant leukodystrophy (ADLD) is an ultra-rare, slowly progressive, and fatal neurodegenerative disorder associated with the loss of white matter in the central nervous system (CNS). Several years after its first clinical description, ADLD was found to be caused by coding and non-coding variants in the LMNB1 gene that cause its overexpression in at least the brain of patients. LMNB1 encodes for Lamin B1, a protein of the nuclear lamina. Lamin B1 regulates many cellular processes such as DNA replication, chromatin organization, and senescence. However, its functions have not been fully characterized yet. Nevertheless, Lamin B1 together with the other lamins that constitute the nuclear lamina has firstly the key role of maintaining the nuclear structure. Being the nucleus a dynamic system subject to both biochemical and mechanical regulation, it is conceivable that changes to its structural homeostasis might translate into functional alterations. Under this light, this review aims at describing the pieces of evidence that to date have been obtained regarding the effects of LMNB1 overexpression on cellular morphology and functionality. Moreover, we suggest that further investigation on ADLD morpho-functional consequences is essential to better understand this complex disease and, possibly, other neurological disorders affecting CNS myelination.
Graphical Abstract
Metabolic Functional Profiles of Microbial Communities in Methane Production Systems Treating Winery Wastewater
Authors: Vital-Jácome Miguel , Carrillo-Reyes Julián , Buitrón Germán 
Published: July 2023

AbstractThis study investigated the impact of process configuration and conditions on microbial communities and metabolic pathways in the anaerobic digestion of winery effluents. Four system configurations were analyzed for taxonomic and functional profiles using 16S rRNA gene sequencing and Tax4Fun2. Sporolactobacillus, Prevotella, and Acetobacter dominated (> 70%) in the acidogenic reactor with 5277 conserved functions across configurations. In the methanogenic reactor, methane production relied on Methanosaeta in the single-stage configuration (13%) and five archaea genera in the two-stage configuration (18%). Thermophilic conditions favored syntrophic acetate oxidation and hydrogenotrophic methanogenesis by Methanothermobacter (65%), significantly changing due to temperature. The two-stage configuration exhibited 3.0 times higher functional redundancy than the single-stage configuration. Mesophilic conditions displayed 2.5 times greater functional redundancy than thermophilic conditions. High organic loading rate and short hydraulic retention time reduced functional redundancy by 1.5 times. Assessing microbial functionality beyond their composition is crucial to understand stability and performance of anaerobic digestion systems.
Stability of hypersurfaces with constant mean curvature trapped between two parallel hyperplanes
Authors: Koiso Miyuki , Miyamoto Umpei 
Published: July 2023

AbstractStatic equilibrium configurations of continua supported by surface tension are given by constant mean curvature (CMC) surfaces which are critical points of a variational problem to extremize the area while keeping the volume fixed. CMC surfaces are used as mathematical models of a variety of continua, such as tiny liquid drops, stars, and nuclei, to play important roles in both mathematics and physics. Therefore, the geometry of CMC surfaces and their properties such as stability are of special importance in differential geometry and in a variety of physical sciences. In this paper we examine the stability of CMC hypersurfaces in arbitrary dimensions, possibly having boundaries on two parallel hyperplanes, by investigating the second variation of the area. We determine the stability of non-uniform liquid bridges or unduloids for the first time in all dimensions and all parameter (the ratio of the neck radius to bulge radius) regimes. The analysis is assisted by numerical computations.
A fast and efficient particle packing generation algorithm with controllable gradation for discontinuous deformation analysis
Authors: Ma Jianjun , Ding Wenjie , Lin Yuexiang , Chen Wanxiang , Huang Linchong 
Published: July 2023

AbstractA systematic geometric algorithm is developed to generate particle packing with high density, controllable gradation, and uniform spatial distribution for discontinuous deformation analysis (DDA). The algorithm incorporates a lattice searching technique to expedite overlap detection and reduce computational costs during particle packing generation. Additionally, a Fourier transformation method is utilized to analytically handle overlap detections on arbitrary irregular boundaries. To evaluate the efficiency and accuracy of the proposed method, a series of comparisons are made between existing methods and the proposed approach. Numerical modelling of engineering problems is conducted using the proposed method and a self-developed numerical program called DDA. The modelling results demonstrate that the proposed particle generation method has wide applications in generating complex particle models for discontinuous numerical analysis. The algorithm exhibits excellent performance in both geometric and numerical analyses, further confirming its efficiency and accuracy.
Continuous flow process development for the synthesis of an industrial raw material via solvent-free aromatic Claisen rearrangement
Authors: Petrovic Nikola , Ötvös Sándor B. , Kappe C. Oliver 
Published: July 2023

AbstractA high-temperature continuous flow protocol is reported for the intensified synthesis of an important industrial raw material via aromatic Claisen rearrangement of the corresponding diallyl ether precursor. The process takes advantage of solvent-free conditions, thereby maximizing productivity whilst reducing cost and environmental impact. By precise control over reaction temperature and residence times, a high-yielding and selective synthesis is achieved that ensures improved safety and scalability of the exothermic transformation compared with earlier batch methodologies.
Graphical Abstract
An outbreak investigation of parechovirus-A3 in a newborn nursery
Authors: Aizawa Yuta , Saeki Keisuke , Mori Kazuetsu , Ikuse Tatsuki , Izumita Ryohei , Saitoh Akihiko 
Published: July 2023

AbstractObjective:To investigate parechovirus-A3 (PeV-A3) transmission in a newborn nursery, after encountering 3 neonates with fever and rash.Design:An observational study.Setting:At a newborn nursery at the general hospital in Hyogo, Japan.Participants:Symptomatic neonates and their family members, and asymptomatic neonates born during the same period.Methods:PCR assays for PeV-A and genotyping were used for the investigation of PeV-A3. Preserved umbilical cords were used to identify the route of transmission.Results:PeV-A3 infection was confirmed in the three symptomatic neonates. The index case had fever and rash, and the 2 neonates treated later became symptomatic and had serum, cerebrospinal fluid, and stool specimens that were positive for PeV-A3 on PCR. The umbilical cord of the index case was positive for PeV-A3 on PCR. The family members of the index case, including the mother, were asymptomatic before delivery. The older sister and cousin of the PeV-A3–infected neonate had positive PCR results. The sequence analysis suggested 2 possible transmission routes: vertical and horizontal transmission in a newborn nursery and/or a family outside the hospital. The incubation period of PeV-A3 infection was estimated to be 1–3 days (maximum, 7 days).Conclusion:Horizontal transmission of PeV-A3 was confirmed in a newborn nursery. Vertical transmission was suggested by the detection of RNA in an umbilical cord sample from the index case. These observations indicate that PeV-A3 can be horizontally transmitted in a newborn nursery and that special caution is required to prevent healthcare-associated transmission of PeV-A3.
Nocturnal Turbulence at Jezero Crater as Determined From MEDA Measurements and Modeling
Authors: Pla‐García Jorge , Munguira A. , Rafkin S. , Newman C. , Bertrand T. , Martínez G. , Hueso R. , Sánchez‐Lavega A. , del Río Gaztelurrutia T. , Stott A. , Murdoch N. , de la Torre Juárez M. , Lemmon M. , Chide B. , Viúdez‐Moreiras D. , Savijarvi H. , Richardson M. , Marín M. , Sebastian E. , Lepinette‐Malvitte A. , Mora L. , Rodríguez‐Manfredi J. A. 
Published: July 2023

AbstractMars 2020 Mars Environmental Dynamics Analyzer (MEDA) instrument data acquired during half of a Martian year (Ls 13°–180°), and modeling efforts with the Mars Regional Atmospheric Modeling System (MRAMS) and the Mars Climate Database (MCD) enable the study of the seasonal evolution and variability of nocturnal atmospheric turbulence at Jezero crater. Nighttime conditions in Mars's Planetary Boundary Layer are highly stable because of strong radiative cooling that efficiently inhibits convection. However, MEDA nighttime observations of simultaneous rapid fluctuations in horizontal wind speed and air temperatures suggest the development of nighttime turbulence in Jezero crater. Mesoscale modeling with MRAMS also shows a similar pattern and enables us to investigate the origins of this turbulence and the mechanisms at play. As opposed to Gale crater, less evidence of turbulence from breaking mountain wave activity was found in Jezero during the period studied with MRAMS. On the contrary, the model suggests that nighttime turbulence at Jezero crater is explained by increasingly strong wind shear produced by the development of an atmospheric bore‐like disturbance at the nocturnal inversion interface. These atmospheric bores are produced by downslope winds from the west rim undercutting a strong low‐level jet aloft from ∼19:00 to 01:00 LTST and from ∼01:00 LTST to dawn when undercutting weak winds aloft. The enhanced wind shear leads to a reduction in the Richardson number and an onset of mechanical turbulence. Once the critical Richardson Number is reached (Ri ∼ <0.25), shear instabilities can mix warmer air aloft down to the surface.
Recent progress in quantum photonic chips for quantum communication and internet
Authors: Luo Wei , Cao Lin , Shi Yuzhi , Wan Lingxiao , Zhang Hui , Li Shuyi , Chen Guanyu , Li Yuan , Li Sijin , Wang Yunxiang , Sun Shihai , Karim Muhammad Faeyz , Cai Hong , Kwek Leong Chuan , Liu Ai Qun 
Published: July 2023

AbstractRecent years have witnessed significant progress in quantum communication and quantum internet with the emerging quantum photonic chips, whose characteristics of scalability, stability, and low cost, flourish and open up new possibilities in miniaturized footprints. Here, we provide an overview of the advances in quantum photonic chips for quantum communication, beginning with a summary of the prevalent photonic integrated fabrication platforms and key components for integrated quantum communication systems. We then discuss a range of quantum communication applications, such as quantum key distribution and quantum teleportation. Finally, the review culminates with a perspective on challenges towards high-performance chip-based quantum communication, as well as a glimpse into future opportunities for integrated quantum networks.
Nitrification and beyond: metabolic versatility of ammonia oxidising archaea
Authors: Wright Chloe L , Lehtovirta-Morley Laura E 
Published: July 2023

Abstract
Ammonia oxidising archaea are among the most abundant living organisms on Earth and key microbial players in the global nitrogen cycle. They carry out oxidation of ammonia to nitrite, and their activity is relevant for both food security and climate change. Since their discovery nearly 20 years ago, major insights have been gained into their nitrogen and carbon metabolism, growth preferences and their mechanisms of adaptation to the environment, as well as their diversity, abundance and activity in the environment. Despite significant strides forward through the cultivation of novel organisms and omics-based approaches, there are still many knowledge gaps on their metabolism and the mechanisms which enable them to adapt to the environment. Ammonia oxidising microorganisms are typically considered metabolically streamlined and highly specialised. Here we review the physiology of ammonia oxidising archaea, with focus on aspects of metabolic versatility and regulation, and discuss these traits in the context of nitrifier ecology.
Acute social jetlag augments morning blood pressure surge: a randomized crossover trial
Authors: Nakamura Nobuhiro , Akiyama Hiroshi , Nishimura Mei , Zhu Kejing , Suzuki Katsuhiko , Higuchi Mitsuru , Tanisawa Kumpei 
Published: July 2023

AbstractAlthough social jetlag (SJL) is generally considered a chronic condition, even acute SJL may have unfavorable effects on the cardiovascular system. We focused on the acute effects of SJL on morning blood pressure (BP) surge. This randomized crossover trial recruited 20 healthy men. In the SJL trial, participants delayed their bedtime by three hours on Friday and Saturday nights. Participants in the control (CON) trial implemented the same sleep-wake timing as on weekdays. Pre- and post-intervention measurements were performed to evaluate resting cardiovascular variables on Friday and Monday mornings, respectively. The ambulatory BP was automatically measured during the sleep and awake periods for 2 h after the participant woke up at night before pre- and post-intervention measurements. SJL (average mid-sleep time on weekends – average mid-sleep time on weekdays) occurred only in the SJL trial (SJL: 181 ± 24 min vs. CON: 8 ± 47 min). Carotid-femoral pulse wave velocity (cfPWV) and morning BP surge on Monday in the SJL trial were significantly higher than those on Friday in the SJL trial (cfPWV: P = 0.001, morning BP surge: P < 0.001), and those on Monday in the CON trial (cfPWV: P = 0.007; morning BP surge: P < 0.001). Furthermore, a significant positive correlation was found between ΔcfPWV and Δmorning BP surge (R = 0.587, P = 0.004). These results suggest that even acute SJL augments morning BP surge. This phenomenon may correspond to increased central arterial stiffness.State the details of Clinical Trials: Name: Effect of acute social jetlag on risk factors of lifestyle-related diseases. URL: https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000053204. Unique identifier: UMIN000046639. Registration date: 17/01/2022
A seven-transmembrane methyltransferase catalysing N-terminal histidine methylation of lytic polysaccharide monooxygenases
Authors: Batth Tanveer S. , Simonsen Jonas L. , Hernández-Rollán Cristina , Brander Søren , Morth Jens Preben , Johansen Katja S. , Nørholm Morten H. H. , Hoof Jakob B. , Olsen Jesper V. 
Published: July 2023

AbstractLytic polysaccharide monooxygenases (LPMOs) are oxidative enzymes that help break down lignocellulose, making them highly attractive for improving biomass utilization in industrial biotechnology. The catalytically essential N-terminal histidine (His1) of LPMOs is post-translationally modified by methylation in filamentous fungi to protect them from auto-oxidative inactivation, however, the responsible methyltransferase enzyme is unknown. Using mass-spectrometry-based quantitative proteomics in combination with systematic CRISPR/Cas9 knockout screening in Aspergillus nidulans, we identify the N-terminal histidine methyltransferase (NHMT) encoded by the gene AN4663. Targeted proteomics confirm that NHMT was solely responsible for His1 methylation of LPMOs. NHMT is predicted to encode a unique seven-transmembrane segment anchoring a soluble methyltransferase domain. Co-localization studies show endoplasmic reticulum residence of NHMT and co-expression in the industrial production yeast Komagataella phaffii with LPMOs results in His1 methylation of the LPMOs. This demonstrates the biotechnological potential of recombinant production of proteins and peptides harbouring this specific post-translational modification.
The head mesodermal cell couples FMRFamide neuropeptide signaling with rhythmic muscle contraction in C. elegans
Authors: Choi Ukjin , Hu Mingxi , Zhang Qixin , Sieburth Derek 
Published: July 2023

AbstractFMRFamides are evolutionarily conserved neuropeptides that play critical roles in behavior, energy balance, and reproduction. Here, we show that FMRFamide signaling from the nervous system is critical for the rhythmic activation of a single cell of previously unknown function, the head mesodermal cell (hmc) in C. elegans. Behavioral, calcium imaging, and genetic studies reveal that release of the FLP-22 neuropeptide from the AVL neuron in response to pacemaker signaling activates hmc every 50 s through an frpr-17 G protein-coupled receptor (GPCR) and a protein kinase A signaling cascade in hmc. hmc activation results in muscle contraction through coupling by gap junctions composed of UNC-9/Innexin. hmc activation is inhibited by the neuronal release of a second FMRFamide-like neuropeptide, FLP-9, which functions through its GPCR, frpr-21, in hmc. This study reveals a function for two opposing FMRFamide signaling pathways in controlling the rhythmic activation of a target cell through volume transmission.
Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting
Authors: Aarthy Ramasamy , Aston-Mourney Kathryn , Amutha Anandakumar , Mikocka-Walus Antonina , Anjana Ranjit Mohan , Unnikrishnan Ranjit , Jebarani Saravanan , Venkatesan Ulagamathesan , Gopi Sundaramoorthy , Radha Venkatesan , Mohan Viswanathan 
Published: July 2023

AbstractMaturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes which is detected by genetic testing. We looked at clinical and biochemcial variables that could help detect possible MODY among Asian Indians with youth-onset diabetes. From the diabetes electronic medical records of a diabetes care centre in Chennai in southern India, demographic, anthropometric, and biochemical details of 34 genetically confirmed MODY participants were extracted. They were compared with patients with type 1 diabetes (T1D) (n = 1011) and type 2 diabetes (T2D) (n = 1605), diagnosed below 30 years of age. Clinical and biochemical variables including body mass index (BMI), glycated hemoglobin, HDL cholesterol, and C-peptide (fasting and stimulated) were analyzed to determine whether cut points could be derived to identify individuals who could be sent for genetic testing to diagnose or rule out MODY in this ethnic group. The age at diagnosis was higher for T2D (26.5 ± 4.0 years) compared to T1D (18.2 ± 6.1 years) and MODY (17.8 ± 6.0 years). Individuals with MODY had BMI, glycated hemoglobin, total cholesterol, triglycerides, HDL cholesterol, and C-peptide levels which were intermediate between T1D and T2D. The identified probable parameters and their cut points to identify cases for MODY genetic screening were BMI 21.2–22.7 kg/m2, glycated hemoglobin 7.2–10%, HDL cholesterol 43–45 mg/dl, fasting C -peptide, 1.2–2.1 ng/ml and stimulated C-peptide, 2.1–4.5 ng/ml. Asian Indians with MODY have clinical features that are intermediate between T1D and T2D and selected biochemical parameters, especially stimulated C peptide cut points were the most useful to diagnose MODY.
A retrospective evaluation of the Euroarray STI-11 multiplex system for the detection of eight STI causing agents
Authors: Dichtl Karl , Osterman Andreas , Forster Johannes , Jakob Lena , Suerbaum Sebastian , Flaig Michael J. , Schubert Sören , Wagener Johannes 
Published: July 2023

AbstractWith an incidence of more than > 1,000,000/day, sexually transmitted diseases remain a major challenge for health care systems worldwide. To reduce disease burden, complications, and spread, rapid diagnosis permitting early therapy is pivotal. The range of pathogens is wide and co-infections are common. This complicates pre-analytics, which are based on different laboratory techniques with potentially long turnaround times, e.g., cultivation and multistep serologies. Multiplex PCR provides the opportunity to overcome these limitations. In this study, we evaluated a novel assay, the Euroarray STI-11 microarray (EA; Euroimmun Medizinische Labordiagnostika), for the detection of eight obligate or facultative pathogens. Three-hundred-thirteen clinical specimens, which had been tested and pre-characterized for STI causing agents as part of routine diagnostics, were used as cases and controls in this retrospective study. The EA detected 34/44 Chlamydia trachomatis, 48/50 HSV-1, 50/50 HSV-2, 48/48 Mycoplasma hominis, 45/47 Neisseria gonorrhoeae, 9/11 Treponema pallidum, 46/46 Ureaplasma parvum, and 49/49 Ureaplasma urealyticum infections, respectively. 293 samples were EA positive, with polymicrobial infections (positive for two to six microbial or viral agents) detected in 130/293 cases. Specificities were 100% in the respective control groups (n = 18–48 depending on targeted pathogen) except for N. gonorrhoeae (25/26) and U. urealyticum (44/45). The broad spectrum of obligate and facultative pathogens targeted by the EA makes it a valuable tool in the setting of STI diagnostics and surveillance. The test has the potential to diagnose diseases neglected or overlooked in routine clinical practice. Besides a low sensitivity for C. trachomatis, the EA demonstrated high performance for all analyzed parameters. Further studies are warranted in order to capture a larger variety of the tested pathogens.
Characterization and in-vitro Alzheimer’s properties of exopolysaccharide from Bacillus maritimus MSM1
Authors: Selim Manal S. , Mohamed Sahar S. , Asker Mohsen S. , Ibrahim Abeer Y. , El-Newary Samah A. , El Awady Mohamed E. 
Published: July 2023

AbstractFour bacterial isolates were obtained from marine sediments collected from Sahl Hashish, Hurghada Red Sea, Egypt. This study was designed to search for promising anti-Alzheimer natural polysaccharide; therefore, four isolates were screened for exopolysaccharides (EPSs) production and acetylcholinesterase inhibition. The isolate S16 provided the highest EPS yield (7.51 g/L) and acetylcholinesterase inhibition. It was identified morphologically and genetically using 16S rRNA gene sequence analysis asBacillus maritimus. A Physicochemical analysis of S16 exopolysaccharide (BMEPS) was estimated, which pointed to the presence of uronic acid and sulfate (24.7% and 18.3%, respectively). HPLC analysis indicated that mannuronic acid, glucuronic acid, glucose, and mannose are presented in a molar ratio of 0.8:1.0:2.8:2.3, respectively. Furthermore, FT-IR revealed an abundance of β-configurations. The GPC estimated the average molecular weight (Mw) as 4.31 × 104 g/mol. BMEPS inhibitedAChE (IC50; 691.77 ± 8.65 μg/ ml),BChE (IC50; 288.27 ± 10.50 μg/ ml), and tyrosinase (IC50; 3.34 ± 0.09, 14.00 ± 0.14, and 22.96 ± 1.23 μg/ ml during incubation durations of 10, 20, and 40 min). It also demonstrated a selective anti-inflammatory action againstCOX-2 rather thanCOX-1. Moreover, BMEPS exhibited antioxidant capabilities as free radical and oxygen reactive species (ROS) scavenger, metal chelator, reductant agent, and lipid peroxidation suppressor. These activities are due to the distinct chemical composition. The findings of this study indicate that BMEPS could be considered as promising anti-disease Alzheimer's (AD) material in anin-vitromodel, which qualifies it for advancedin-vivostudies in the discovery of alternative Alzheimer’s treatment.