bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders
Authors: Lok Aishin , Fernandez‐Garcia Miguel A. , Taylor Robert W. , French Courtney , MacFarland Robert , Bodi Istvan , Champion Michael , Josifova Dragana , Raymond Frances Lucy , Iuso Arcangela , Jungbluth Heinz , Milan Anna , Singh Rahul R. 
Published: May 2022

AbstractBiallelic pathogenic variants in phosphopantothenoylcysteine synthetase, PPCS, are a rare cause of a severe early‐onset dilated cardiomyopathy with high morbidity and mortality. To date, only five individuals with PPCS‐mutations have been reported. Here, we report a female infant who presented in the neonatal period with hypotonia, a necrotizing myopathy with intermittent rhabdomyolysis and other extracardiac manifestations before developing a progressive and ultimately fatal dilated cardiomyopathy. Gene agnostic trio genome sequencing revealed two rare variants in the PPCS [MIM: 609853] in trans, a previously reported pathogenic c.320_334del p. (Pro107_Ala111del) variant, and a c.613‐3C>G intronic variant of uncertain significance. Functional studies confirmed the likely pathogenicity of this variant. Our case provides clinical and histopathological evidence for an associated neuromuscular phenotype not previously recognized and expands the evolving phenotypic spectrum of PPCS‐related disorders. We also performed a literature search of all previously published cases and summarize the common features.
Mono‐N‐Alkylation of Sulfonamides with Alcohols Catalyzed by Iridium N‐Heterocyclic Carbene‐Phosphine Complexes
Authors: Li Xingzhen , Peters Bram B. C. , Tan Min , He Lei , Yang Jianping , Andersson Pher G. , Zhou Taigang 
Published: May 2022

AbstractA N‐heterocyclic carbene‐phosphine iridium complex is presented for the efficient and selective mono‐N‐alkylation of sulfonamides with alcohols based on a borrowing hydrogenation strategy. Herein, water is the only by‐product and this methodology thus offers a more environmentally benign and interesting alternative to the use of traditional alkylating reagents. This facile protocol tolerates a large number of (hetero) aromatic and aliphatic sulfonamides as well as (hetero) aromatic and aliphatic alcohols to obtain the desired product is high isolated yield (up to 98%). The alkylation completely retards after the formation of the secondary sulfonamide and no over‐alkylation was observed in all cases. The option to run the reaction under solvent‐free conditions as well as the scalability of this borrowing hydrogenation are key features of this protocol.
Henry Cavendish on Gravitational Deflection of Light
Authors: Lotze Karl‐Heinz , Simionato Silvia 
Published: May 2022

AbstractA recent analysis of two handwritten sheets of paper by Henry Cavendish (1731–1810) reveals the details of his calculation of the deflection of light induced by the gravitational field of isolated celestial bodies. Except for a few lines from one of these pages, where Cavendish communicated the result, the two documents have never been published. This gave rise to speculations about how, if at all, Cavendish derived his formula for the deflection angle by his own calculations. Such doubts are dispelled and it is demonstrated how Cavendish, in these documents, applied Newtonian mechanics to the corpuscles of light.
Alternating Terpolymers through Cyclopolymerization and Subsequent Orthogonal Functionalization
Authors: Gerdt Philipp , Studer Armido 
Published: May 2022

AbstractA method for the synthesis of functionalized alternating copolymers by reversible deactivation radical polymerization was developed. Copolymerization by reversible addition–fragmentation chain transfer of hexenyl vinyl ether with a novel fluorinated divinyl monomer yields alternating cyclopolymers that can be chemoselectively modified by three distinct orthogonal functionalization reactions. Along the thiol‐ene click reaction and amidation, a third functionalization was achieved via NHC‐catalyzed transesterification or acylation resulting in a small library of ABC‐type alternating terpolymers.
Optimization of highly dispersible silica/carbon black hybrid filler ratio for tire tread based on solution‐ andemulsion‐styrenebutadiene rubber
Authors: Thaptong Puchong , Sae‐Oui Pongdhorn , Jittham Pairote , Sirisinha Chakrit 
Published: May 2022

AbstractIn this study, the effects of hybrid filler ratio and styrene‐butadiene rubber (SBR) type on tire tread performance that is, wet grip (WG), fuel‐saving efficiency (FSE), and abrasion resistance, were focused. Two types of SBR that is solution‐SBR (S‐SBR) and emulsion‐SBR (E‐SBR) were selected and reinforced by various ratios of highly dispersible silica (HDSi) to carbon black (CB). Although increasing the CB ratio had negative effects on WG, FSE, heat build‐up, and dynamic set, it improved abrasion resistance. Results revealed a good balance of tire performance at a CB ratio of 40 wt%. Clearly, S‐SBR provided better overall tire performance than E‐SBR, particularly in the silica‐filled system. This is possibly due to the higher glass transition temperature (Tg) and the greater magnitudes of rubber‐filler interaction and crosslink density of S‐SBR. Surprisingly, the HDSi/CB hybrid ratio and the SBR type had little influence on the degree of filler dispersion, probably because of the sufficiently long mixing time employed in this experiment.
Effects of ammonium persulfate on coconut wood (Cocos nucifera L.) cellulose, hemicellulose, and lignin polymers: Improved sound absorption capacity
Authors: Kolya Haradhan , Jang Eun‐Suk , Hashitsume Kazuharu , Kang Chun‐Won 
Published: May 2022

AbstractThe rational design of sound absorption boards made of wood materials is an attractive field of research. This article describes a simple and low‐cost ammonium persulfate treatment on coconut wood cell walls (Cocos nucifera L.). Reaction parameters such as concentration of reactant and reaction time were optimized. The results of different instrumental characterization such as X‐ray photoelectron spectroscopy, X‐ray diffraction, attenuated total reflectance–Fourier transforms infrared spectroscopy, and scanning electron microscope supports the chemical alterations of the wood cell wall. The quantitative analysis of hemicellulose, cellulose, and lignin was performed. The significant changes in cell‐walls enhanced average sound absorption coefficient at each frequency range: 60.4% at 500–1000 Hz (t = −10.593 and p < 0.001), 80.8% at 1000–2000 Hz (t = −4.798 and p < 0.001), 96.2% at 2000–4000 Hz (t = −58.527 and p < 0.001) and 83.0% at 500–64000 Hz (t = −51.261 and p < 0.001). It is due to the increment of gas permeability (288.3%, p = <0.001). These results could be beneficial for new research on wood‐based sound absorption materials to regulate the acoustic environment in houses.
3D‐QSAR and scaffold hopping based designing of benzo[d]ox‐azol‐2(3H)‐one and 2‐oxazolo[4,5‐b]pyridin‐2(3H)‐one derivatives as selective aldehyde dehydrogenase 1A1 inhibitors: Synthesis and biological evaluation
Authors: Verma Himanshu , Narendra Gera , Raju Baddipadige , Kumar Manoj , Jain Subheet K. , Tung Gurleen K. , Singh Pankaj K. , Silakari Om 
Published: May 2022

AbstractAldehyde dehydrogenase 1 (ALDH1A1), an oxidoreductase class of enzymes, is overexpressed in various types of cancer cell lines and is the major cause of resistance to the Food and Drug Administration (FDA)‐approved drug, cyclophosphamide (CP). In cancer conditions, CP undergoes a sequence of biotransformations to form an active metabolite, aldophosphamide, which further biotransforms to its putative cytotoxic metabolite, phosphoramide mustard. However, in resistant cancer conditions, aldophosphamide is converted into its inactive metabolite, carboxyphosphamide, via oxidation with ALDH1A1. Herein, to address the issue of ALDH1A1 mediated CP resistance, we report a series of benzo[d]oxazol‐2(3H)‐one and 2‐oxazolo[4,5‐b]pyridin‐2(3H)‐one derivatives as selective ALDH1A1 inhibitors. These inhibitors were designed using a validated 3D‐quantitative structure activity relationship (3D‐QSAR) model coupled with scaffold hopping. The 3D‐QSAR model was developed using reported indole‐2,3‐diones based ALDH1A1 inhibitors, which provided field points in terms of electrostatic, van der Waals and hydrophobic potentials required for selectively inhibiting ALDH1A1. The most selective indole‐2,3‐diones‐based compound, that is, cmp 3, was further considered for scaffold hopping. Two top‐ranked bioisosteres, that is, benzo[d]oxazol‐2(3H)‐one and 2‐oxazolo[4,5‐b]pyridin‐2(3H)‐one, were selected for designing new inhibitors by considering the field pattern of 3D‐QSAR. All designed molecules were mapped perfectly on the 3D‐QSAR model and found to be predictive with good inhibitory potency (pIC50 range: 7.5–6.8). Molecular docking was carried out for each designed molecule to identify key interactions that are required for ALDH1A1 inhibition and to authenticate the 3D‐QSAR result. The top five inhibitor‐ALDH1A1 complexes were also submitted for molecular dynamics simulations to access their stability. In vitro enzyme assays of 21 compounds suggested that these compounds are selective toward ALDH1A1 over the other two isoforms, that is, ALDH2 and ALDH3A1. All the compounds were found to be at least three and two times more selective toward ALDH1A1 over ALDH2 and ALDH3A1, respectively. All the compounds showed an IC50 value in the range of 0.02–0.80 μM, which indicates the potential for these to be developed as adjuvant therapy for CP resistance.
Effect of Ligand Chain Length for Tuning of Molecular Dimensionality and Magnetic Relaxation in Redox Active Cobalt(II) EDOT Complexes (EDOT=3,4‐Ethylenedioxythiophene)
Authors: Ghosh Subrata , Kamilya Sujit , Mehta Sakshi , Herchel Radovan , Kiskin Mikhail , Veber Sergey , Fedin Matvey , Mondal Abhishake 
Published: May 2022

AbstractFour cobalt(II) complexes, [Co(L1)2(NCX)2(MeOH)2] (X=S (1), Se (2)) and {[Co(L2)2(NCX)2]}n (X=S (3), Se (4)) (L1=2,5‐dipyridyl‐3,4,–ethylenedioxylthiophene and L2=2,5‐diethynylpyridinyl‐3,4‐ethylenedioxythiophene), were synthesized by incorporating ethylenedioxythiophene based redox‐active luminescence ligands. All these complexes have been well characterized using single‐crystal X‐ray diffraction analyses, spectroscopic and magnetic investigations. Magneto‐structural studies showed that 1 and 2 adopt a mononuclear structure with CoN4O2 octahedral coordination geometry while 3 and 4 have a 2D [4×4] rhombic grid coordination networks (CNs) where each cobalt(II) center is in a CoN6 octahedral coordination environment. Static magnetic measurements reveal that all four complexes displayed a high spin (HS) (S=3/2) state between 2 and 280 K which was further confirmed by X‐band and Q‐band EPR studies. Remarkably, along with the molecular dimensionality (0D and 2D) the modification in the axial coligands lead to a significant difference in the dynamic magnetic properties of the monomers and CNs at low temperatures. All complexes display slow magnetic relaxation behavior under an external dc magnetic field. For the complexes with NCS− as coligand observed higher energy barrier for spin reversal in comparison to the complexes with NCSe− as coligand, while mononuclear complex 1 exhibited a higher energy barrier than that of CN 3. Theoretical calculations at the DFT and CASSCF level of theory have been performed to get more insight into the electronic structure and magnetic properties of all four complexes.
Exploring the intercalation binding of tiamulin with DNA using multispectroscopy and a molecular modelling approach
Authors: Bi Shuyun , Li Xu , Ren Zhixin , Yang Bin , Wang Yuting , Zhang Fengming , Yuan Yue , Shao Di , Zhao Rui 
Published: May 2022

AbstractThe binding of tiamulin with calf thymus DNA was systematically investigated using multispectroscopy and molecular modelling techniques. For DNA, once tiamulin was added, viscosity (η) and melting temperature (Tm) both exhibited an uptrend. The fluorescence performance of the tiamulin–DNA complex did not change with the ionic strength changes. The binding constant (Ka) of tiamulin for single‐stranded DNA (ssDNA, 1.48 × 104 M−1) was obviously higher than that for double‐stranded DNA (dsDNA, 9.51 × 103 M−1) at 291 K. The helix structure became looser and the base stack force became stronger for DNA due to the presence of tiamulin as seen from circular dichroic (CD) spectra. The intercalation binding mode of tiamulin with DNA was disclosed. Molecular modelling also revealed tiamulin inserting into the base pairs with the lowest binding free energy of −18.73 kJ mol−1 using van der Waals forces as well as hydrogen bonds.
Understanding the role of non‐Watson‐Crick base pairs in DNA–protein recognition: Structural and energetic aspects using crystallographic database analysis and quantum chemical calculation
Authors: Das Soumi , Roy Siddhartha , Bhattacharyya Dhananjay 
Published: May 2022

AbstractSpecific recognition of DNA base sequences by proteins is vital for life‐cycles of all organisms. In a large number of crystal structures of protein–DNA complexes, DNA conformation significantly deviates from the canonical B‐DNA structure. A key question is whether such alternate conformations exist prior to protein binding and one is selected for complexation or the structure observed is induced by protein binding. Non‐canonical base pairs, such as Hoogsteen base pairs, are often observed in crystal structures of protein–DNA complexes. We decided to explore whether the occurrence of such non‐canonical base pairs in protein–DNA complexes is induced by the protein or is selected from pre‐existing conformations. Detailed quantum chemical calculations with dispersion‐corrected density functional theory (DFT‐D) indicated that most of the non‐canonical base pairs with DNA bases are stable even in the absence of the interacting amino acids. However, the G:G Hoogsteen base pair, which also appears in the telomere structure, appears to be unstable in the absence of other stabilizing agents, such as positively charged amino acids. Thus, the stability of many of the non‐canonical base pair containing duplexes may be close to the canonical B‐DNA structure and hence energetically accessible in the ground state; suggesting that the selection from pre‐existing conformations may be an important mechanism for observed non‐canonical base pairs in protein–DNA complexes.
The ‘need for speed’: Towards circular disruption—What it is, how to make it happen and how to know it's happening
Authors: Blomsma Fenna , Bauwens Thomas , Weissbrod Ilka , Kirchherr Julian 
Published: May 2022

AbstractThe environmental, social and economic limits and shortcomings of the current linear model of production and consumption highlight the necessity of a rapid transition towards a sustainable paradigm. The concept of a circular economy has recently gained traction among scholars, policy‐makers and businesses as a promising alternative. Yet our understanding of how to speed up the systemic transition from a linear economy paradigm towards a circular economy paradigm is lacking. In this paper, we address this research gap by introducing the concept of ‘circular disruption’ and by describing how such a disruption may unfold. To do so, we build on S‐curve thinking and the concept of panarchy. Based on the resulting synthesis, we propose three phases that constitute the core of the disruption process: (1) the release phase, (2) the reorganisation phase and (3) the eruption phase. We then operationalise these three phases for different enabling innovation system functions and illustrate our observations with examples for the textile and fashion sector. We discuss how each of the three disruption phases can be accelerated to quickly create an opening for the new circular paradigm. The proposed circular disruption framework offers novel insights on socio‐technical transitions and changes and contributes to strengthening a systemic and theoretically grounded approach to circular economy research. Scholars and practitioners alike may take advantage of this work to focus circular economy efforts on speed and scale—an urgently needed focus to start tackling the sustainability challenges humankind is currently facing.
Structural Diversity of Complex Phloroglucinol Derivatives from Eucalyptus Species
Authors: Faezeh Taghizadeh Seyedeh , Panahi Ali , Esmaeilzadeh Kashi Marziyeh , Kretschmer Nadine , Asili Javad , Ahmad Emami Seyed , Azizi Majid , Shakeri Abolfazl 
Published: May 2022

AbstractSeveral species of the genus Eucalyptus are used in many traditional medicine systems for the treatment of respiratory tract infections, colds, flu, sore throats, and bronchitis. The genus Eucalyptus (Myrtaceae) is a well‐known natural source of bioactive phloroglucinols. These polyphenolic compounds bear an aromatic phenyl ring with three hydroxy groups (1,3,5‐trihydroxybenzene) which have been exhibiting a variety of biological activities such as antimicrobial, anticancer, anti‐allergic, anti‐inflammatory, and antioxidant activities. This review summarizes the literature published from 1997 until the end of 2021 and addresses the structure diversity of phloroglucinols isolated from Eucalyptus species and their biological activities. Phloroglucinol‐terpene adducts are the main class of compounds that have been reported in this genus.
Robotically performed diagnostic coronary angiography
Authors: Joseph Timothy , VanOosterhout Stacie , Negash Araya , VanLoo Lisa , Redmond Meaghan , Parker Jessica L. , McNamara David A. , Madder Ryan D. 
Published: May 2022

AbstractObjectiveThis study was performed to investigate the efficacy and safety of robotic diagnostic coronary angiography.BackgroundRobotic percutaneous coronary intervention is associated with marked reductions in physician radiation exposure. Development of robotic diagnostic coronary angiography might similarly impact occupational safety.MethodsStable patients referred for coronary angiography were prospectively enrolled. After obtaining vascular access, diagnostic catheters were manually advanced over a wire to the ascending aorta. All subsequent catheter movements were performed robotically. The primary endpoint was procedural success, defined as robotic completion of coronary angiography without conversion to a manual procedure and the absence of procedural major adverse cardiovascular events (MACE—cardiac death, cardiac arrest, or stroke) and major angiographic complications (coronary/aortic dissection or embolization). The primary hypothesis was that the observed rate of the primary endpoint, evaluated at the completion of coronary angiography, would meet a pre‐specified performance goal of 74.5%.ResultsAmong 46 consecutive patients (age 67 ± 12 years; 69.6% male), diagnostic coronary angiography was completed robotically in all cases without the need for manual conversion and without any MACE or major angiographic complications. Thus, procedural success was 100%, which was significantly higher than the pre‐specified performance goal (p < 0.001). Robotic coronary angiography was completed using 2 [2, 3] catheters per case with a median procedural time of 15 [11, 20] minutes.ConclusionsRobotic diagnostic coronary angiography was performed with 100% procedural success and no observed complications. These results support the performance of future studies to further explore robotic coronary angiography.
Characterization of einkorn and durum wheat flours by GlutoPeak and evaluation of pasta quality made of various substitution ratios of einkorn
Authors: Kaplan Evlice Asuman 
Published: May 2022

AbstractBackground and ObjectivesThis study aimed to investigate the effect of the replacement of durum wheat (Ankara 98) with an increasing amount of einkorn (Siyez) (30%, 50%, 70%, and 100%) on the chemical, physicochemical, and rheological properties of flour as well as cooking and textural properties of pasta.FindingsEinkorn had poor aggregation properties of gluten examined by the new instrument GlutoPeak. An increase in firmness was determined in cooked pasta samples produced by replacing semolina with an increasing amount of einkorn flour. Besides this, the lowest optimum cooking time, cooking loss, water absorption, and breaking strength values were obtained from the pasta produced with 100% einkorn wholemeal flour. Yellow pigment contents of flour and pasta increased with an increasing amount of einkorn flour; however, einkorn pasta had darker color.ConclusionEinkorn had poor rheological characteristics and darker pasta color; however, the einkorn blend used in the present study enables the partial replacement of wheat semolina in pasta with acceptable cooking quality and texture.Significance and NoveltyPasta samples produced from einkorn or einkorn–durum blends had acceptable cooking quality and textural characteristics but better nutritional value than the durum wheat pasta.
Transoral removal of a hilo‐parenchymal submandibular sialolith
Authors: Kataoka Yo‐Hei , Kojima Yoshihiro , Ishibashi Ruri , Nakao Yuji , Yamamura Koji , Takahashi Shotaro , Hashiba Takafumi , Matsue Takahito 
Published: May 2022

AbstractIn sialolithiasis, the lithiasis is often large and located at the junction of the middle and posterior third of the duct, in the hilum region. In such cases, transoral approach for submandibular lithiases (TASL) is a useful treatment of choice in patients with large submandibular stones that can be palpated bimanually.
Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis
Authors: Al Zaabi Nuha Nasser , Sirajum Muneera , Al‐Wawi Mohd Zaki , Al Suwaiji Mohammed 
Published: May 2022

AbstractThe IDUA gene (MIM 252800) provides instructions for producing alpha‐L‐iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause Mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing many different organs and tissues to be dysfunctional. Deleted IDUA gene has not been reported in the literature, which showed to be associated with a severe phenotype in our proband case. We report a child from a consanguineous family who presented with severe cardiogenic shock attributed to dilated cardiomyopathy. He was also found to have hepatosplenomegaly, joint stiffness, hearing loss, corneal hazing, facial dysmorphism, and dilation of brain ventricles. Lysosomal storage disease particularly MPS I was suspected though it is considered to be an early atypical presentation. The diagnosis was achieved via gene mutation analysis which showed homozygous IDUA deletion of exon 9′ to 3′ in combination with a severe deficiency of alpha‐L‐iduronidase enzyme. A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of MPS I. Establishment of the diagnosis permits genetic counseling, prevents patients from undergoing unhelpful diagnostic procedures, and allows for accurate prognosis.