bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygous SCN2A gene mutation causing early infantile epileptic encephalopathy: The second case in literature
Authors: Yılmaz Hale Önder 
Published: September 2019

Objective: Early infantile epileptic encephalopathy type11 (EIEE) generally known as an autosomal dominant inherited disease caused by the voltage-gated sodium channel neuronal type 2 alpha subunit (Navα1.2) encoded by the SCN2A gene mutations. The clinic of the disease is variable. Herein we report the second case with a homozygous missense mutation of the SCN2A gene (c.1588 G>T).
Material and methods: NGS gene panel including the SCN2A gene from genomic DNA extracted from peripheral blood using a commercially available kit and quantified using standard methods. Illumina miseq analysis platform was used for this purpose, we performed analysis of coding regions and exon-intron boundaries and the data was analyzed by IGV.
Results: The results confirmed by sanger sequencing show us an SCN2A (NM_001040142) c.1588 G>T homozygote mutation.
Conclusion: This shows us more clinical and molecular studies need for SCN2A associated disease pathogenesis
Diagnosis of human sporotrichosis in Campos dos Goytacazes, Rio de Janeiro, Brazil
Authors: De Almeida Adriana Jardim , Nahn Júnior Edilbert Pelegrini , Vieira da Motta Olney , Lourenço Camila da Silva , Bernardino Maria de Lourdes Amaral , Nahn Gabriel Portal Barros Pellegrini 
Published: September 2019

Introduction: Sporotrichosis is an infectious fungal zoonosis associated with traumatic implantation in the skin of dimorphic fungi of the Sporothrix schenckii complex. The objective of this study was to diagnose sporotrichosis in patients in the city of Campos dos Goytacazes, and to establish correlations between positive laboratory results and dermatological and topographical aspects of the lesions and personal traits of the patients, such as sex, age and profession.
Methodology: We collected samples from 22 patients with suspect lesions, which were sent to the laboratory for direct microscopic analysis after Gram staining, followed by mycological culture by seeding the material in 4% Sabouraud dextrose agar (Himedia®) supplemented with chloramphenicol (50 mg/Lt) and cycloheximide (400 mg/Lt - Sigma-Aldrich, USA). The dishes were incubated at 25-30oC. For confirmation of the diagnosis, the strains isolated in mycelial form were converted to yeast form by culture in yeast-peptone-dextrose (YPD) agar at 37oC for up to 15 days.
Results: The positive results demonstrated that the disease was most frequently diagnosed in women between the ages of 19 and 60 years, and that 18 (81.8%) of the patients reported having contact with pet cats. The occupations of those positive for sporotrichosis were not related to the disease. The upper limbs were the body region most often afflicted, with observation in the majority of cases of ulcerated lesions, although five patients also had nodular lesions. Additionally, the observation of lymphatic cords was frequent.
Conclusion: In recent years, sporotrichosis has been diagnosed with relative frequency in Campos dos Goytacazes, causing great concern among public health officials and practitioners.
A Mechanistic Study of Carbon Steel Cracking in 360°C Air and Hydrogen Environments
Authors: Persaud S.Y. , Arioka K. , Farquharson K. , Dixon C. , Judge C.D. 
Published: September 2019

Thirty percent cold-worked (CW) carbon steel tensile specimens were exposed to 360°C air and hydrogen environments (2 MPa H2 and 20 MPa H2) under an applied load to produce intergranular creep cracking. In this study, cutting-edge microscopy techniques were applied to characterize cracking on multiple length scales and in three dimensions. The objective was to develop a better mechanistic understanding of creep cracking in carbon steel, and the known deleterious effect of hydrogen (attack) at the micro-to-nanoscale. Amorphous carbon along the fracture path was observed in all experiments, with evidence for nanoscale cavities/methane bubbles in hydrogen exposures, particularly at cementite-ferrite boundaries. Results suggested that creep or residual stress led to breakdown of cementite to amorphous carbon, cavitation, and/or formation of methane (depending on H2 content); it is suggested that the combination of deleterious mechanisms leads to initiation and/or acceleration of creep cracking in CW carbon steel. Comparisons are made between the morphology of creep cracking in these laboratory experiments and recent results from characterization of creep cracking in ex-service carbon steel piping from a CANDU nuclear power plant. Although more subtle, similar morphology and chemistry at crack tips in laboratory and ex-service CW carbon steel suggests that the mechanism(s) of creep cracking is similar.
Location of the Deep Plantar Artery: A Cadaveric Study
Authors: Whelan James H. , Lazoritz John P. , Kiser Caroline , Vardaxis Vassilios 
Published: September 2019

Background
The deep plantar (D-PL) artery originates from the dorsalis pedis artery in the proximal first intermetatarsal space, an area where many procedures are performed to address deformity, traumatic injury, and infection. The potential risk of injury to the D-PL artery is concerning. The D-PL artery provides vascular contribution to the base of the first metatarsal and forms the D-PL arterial arch with the lateral plantar artery.

Methods
In an effort to improve our understanding of the positional relationship of the D-PL artery to the first metatarsal, dissections were performed on 43 embalmed cadaver feet to measure the location of the D-PL artery with respect to the base of the first metatarsal. Digital images of the dissected specimens were acquired and saved for measurement using in-house software. Means, standard deviations, and 95% confidence intervals (CIs) were calculated for all of the measurement parameters.

Results
We found that the origin of the D-PL artery was located at a mean ± SD of 11.5 ± 3.9 mm (95% CI, 4.5–24.7 mm) distal to the first metatarsal base and 18.6% ± 6.5% (95% CI, 8.1%–43.4%) of length in reference to the proximal base. The average interrater reliability across all of the measurements was 0.945.

Conclusions
This study helps clarify the anatomical location of the D-PL artery by providing parameters to aid the surgeon when performing procedures in the proximal first intermetatarsal space. Care must be taken when performing procedures in the region to avoid unintended vascular injury to the D-PL artery.
The sugarcane mitochondrial genome: assembly, phylogenetics and transcriptomics
Authors: Lloyd Evans Dyfed , Hlongwane Thandekile Thandiwe , Joshi Shailesh V. , Riaño Pachón Diego M. 
Published: September 2019

Background
Chloroplast genomes provide insufficient phylogenetic information to distinguish between closely related sugarcane cultivars, due to the recent origin of many cultivars and the conserved sequence of the chloroplast. In comparison, the mitochondrial genome of plants is much larger and more plastic and could contain increased phylogenetic signals. We assembled a consensus reference mitochondrion with Illumina TruSeq synthetic long reads and Oxford Nanopore Technologies MinION long reads. Based on this assembly we also analyzed the mitochondrial transcriptomes of sugarcane and sorghum and improved the annotation of the sugarcane mitochondrion as compared with other species.

Methods
Mitochondrial genomes were assembled from genomic read pools using a bait and assemble methodology. The mitogenome was exhaustively annotated using BLAST and transcript datasets were mapped with HISAT2 prior to analysis with the Integrated Genome Viewer.

Results
The sugarcane mitochondrion is comprised of two independent chromosomes, for which there is no evidence of recombination. Based on the reference assembly from the sugarcane cultivar SP80-3280 the mitogenomes of four additional cultivars (R570, LCP85-384, RB72343 and SP70-1143) were assembled (with the SP70-1143 assembly utilizing both genomic and transcriptomic data). We demonstrate that the sugarcane plastome is completely transcribed and we assembled the chloroplast genome of SP80-3280 using transcriptomic data only. Phylogenomic analysis using mitogenomes allow closely related sugarcane cultivars to be distinguished and supports the discrimination between Saccharum officinarum and Saccharum cultum as modern sugarcane’s female parent. From whole chloroplast comparisons, we demonstrate that modern sugarcane arose from a limited number of Saccharum cultum female founders. Transcriptomic and spliceosomal analyses reveal that the two chromosomes of the sugarcane mitochondrion are combined at the transcript level and that splice sites occur more frequently within gene coding regions than without. We reveal one confirmed and one potential cytoplasmic male sterility (CMS) factor in the sugarcane mitochondrion, both of which are transcribed.

Conclusion
Transcript processing in the sugarcane mitochondrion is highly complex with diverse splice events, the majority of which span the two chromosomes. PolyA baited transcripts are consistent with the use of polyadenylation for transcript degradation. For the first time we annotate two CMS factors within the sugarcane mitochondrion and demonstrate that sugarcane possesses all the molecular machinery required for CMS and rescue. A mechanism of cross-chromosomal splicing based on guide RNAs is proposed. We also demonstrate that mitogenomes can be used to perform phylogenomic studies on sugarcane cultivars.
Extracellular ADP augments microglial inflammasome and NF‐κB activation via the P2Y12 receptor
Authors: Suzuki Tomonori , Kohyama Kuniko , Moriyama Kengo , Ozaki Mariko , Hasegawa Setsuko , Ueno Taro , Saitoe Minoru , Morio Tomohiro , Hayashi Masaharu , Sakuma Hiroshi 
Published: September 2019

AbstractThe NLRP3 inflammasome is a molecular complex that translates signals from pathogens and tissue damage into inflammatory responses, and plays crucial roles in numerous neurological diseases. Activation of the NLRP3 inflammasome leads to caspase‐1 dependent cleavage of pro‐IL‐1β to form mature IL‐1β. By acting on the P2X7 purinergic receptor, extracellular ATP is one of the major stimuli that activates the NLRP3 inflammasome. Although microglia express multiple purinergic receptors, their roles in inflammasome‐mediated inflammation are largely unknown. We studied the role of the P2Y12 receptor, a metabotropic P2Y receptor enriched in microglia, on inflammation in vitro. Inhibition of the microglial P2Y12 receptor by PSB0739 or siRNA knockdown suppressed IL‐1β release. P2Y12 receptor‐deficient microglia displayed markedly attenuated IL‐1β mRNA expression and release. P2Y12 receptor blockade also suppressed IL‐6 production. Both IL‐1β and IL‐6 responses were augmented by extracellular ADP or ADP‐βS and were abrogated by PSB0739. Mechanistically, ADP‐βS potentiated NF‐κB activation. In addition, ADP altered mitochondrial membrane potential in combination with ATP and increased the number of caspase‐1 positive cells through the P2Y12 receptor. These results elucidate a novel inflammatory mechanism by which extracellular ADP acts on the P2Y12 receptor to activate NF‐κB and the NLRP3 inflammasome to enhance microglial inflammation.
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
Authors: Wilson Lane H. , Cho Jun‐Ho , Estrella Ana , Smyth Joan A. , Wu Rong , Chengsupanimit Tayoot , Brown Laurie M. , Weinstein David A. , Lee Young Mok 
Published: September 2019

Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency (Pygl
−/−). Pygl
−/− mice exhibit hepatomegaly, excessive hepatic glycogen accumulation, and low hepatic free glucose along with lower fasting blood glucose levels and elevated blood ketone bodies. Hepatic glycogen accumulation in Pygl
−/− mice increases with age. Masson's trichrome and picrosirius red staining revealed minimal to mild collagen deposition in periportal, subcapsular, and/or perisinusoidal areas in the livers of old Pygl
−/− mice (>40 weeks). Consistently, immunohistochemical analysis showed the number of cells positive for alpha smooth muscle actin (α‐SMA), a marker of activated hepatic stellate cells, was increased in the livers of old Pygl
−/− mice compared with those of age‐matched wild‐type (WT) mice. Furthermore, old Pygl
−/− mice had inflammatory infiltrates associated with hepatic vessels in their livers along with up‐regulated hepatic messenger RNA levels of C‐C chemokine ligand 5 (Ccl5/Rantes) and monocyte chemoattractant protein 1 (Mcp‐1), indicating inflammation, while age‐matched WT mice did not. Serum levels of aspartate aminotransferase and alanine aminotransferase were elevated in old Pygl
−/− mice, indicating liver damage. Conclusion: Pygl deficiency results in progressive accumulation of hepatic glycogen with age and liver damage, inflammation, and collagen deposition, which can increase the risk of liver fibrosis. Collectively, the Pygl‐deficient mouse recapitulates clinical features in patients with GSD‐VI and provides a model to elucidate the mechanisms underlying hepatic complications associated with defective glycogen metabolism.
Serum testosterone/cortisol ratio in people with obstructive sleep apnea
Authors: Mohammadi Hiwa , Rezaei Mohammad , Sharafkhaneh Amir , Khazaie Habibolah , Ghadami Mohammad Rasoul 
Published: September 2019

AbstractObjectivesObstructive sleep apnea (OSA) is a major health problem that has been associated with endocrine dysfunction in the hypothalamic‐pituitary‐gonadal (HPG) and hypothalamic‐pituitary‐adrenal (HPA) axes. This study investigated cortisol, testosterone, and the testosterone/cortisol ratio in patients with OSA compared to normal sleepers.MethodsThirty‐nine OSA patients diagnosed by overnight polysomnography (PSG) were divided into three groups, including ten mild OSA patients, 16 patients with moderate OSA, and 13 patients with severe OSA according to the apnea‐hypopnea index (AHI). In addition, 13 normal sleepers with normal PSG findings were recruited as the control group. Serum levels of cortisol, testosterone, and sex hormone‐binding globulin (SHBG) were measured using enzyme‐linked immunosorbent assay (ELISA).ResultsThere were no significant differences between the normal sleepers and the three subtypes of OSA in terms of total and free testosterone levels (P > .1). The results showed significantly higher levels of cortisol in the severe OSA group compared to the normal sleepers and the two other subtypes of OSA (P < .01). In addition, the testosterone/cortisol (T/C) ratio was significantly lower among the severe OSA compared to the moderate OSA patients (P = .01). A significant correlation was observed between minimal SpO2 and AHI (r=−0.69, P < .01), cortisol and AHI (r = .47, P < .01) and cortisol and minimal SpO2 (r = −.26, P = .06).ConclusionAccording to the findings, OSA is linked to HPA axis activity in severe OSA patients but not among the mild and moderate subtypes of the disorder.
Self‐Assembled Polymeric Membranes and Nanoassemblies on Surfaces: Preparation, Characterization, and Current Applications
Authors: Chimisso Vittoria , Maffeis Viviana , Hürlimann Dimitri , Palivan Cornelia G. , Meier Wolfgang 
Published: September 2019

AbstractBiomembranes play a crucial role in a multitude of biological processes, where high selectivity and efficiency are key points in the reaction course. The outstanding performance of biological membranes is based on the coupling between the membrane and biomolecules, such as membrane proteins. Polymer‐based membranes and assemblies represent a great alternative to lipid ones, as their presence not only dramatically increases the mechanical stability of such systems, but also opens the scope to a broad range of chemical functionalities, which can be fine‐tuned to selectively combine with a specific biomolecule. Tethering the membranes or nanoassemblies on a solid support opens the way to a class of functional surfaces finding application as sensors, biocomputing systems, molecular recognition, and filtration membranes. Herein, the design, physical assembly, and biomolecule attachment/insertion on/within solid‐supported polymeric membranes and nanoassemblies are presented in detail with relevant examples. Furthermore, the models and applications for these materials are highlighted with the recent advances in each field.
Energetic N‐nitrooxyethylimidazolium Salts: Synthesis, Structures and Properties
Authors: Yang Haijun , Su Ke , Liu Cailin , Ren Xianyan 
Published: September 2019

AbstractEnergetic salts 2 and 4 a‐f, comprising an energetic 1,2‐dimethyl‐3‐(2‐nitrooxyethyl)imidazolium cation and energetic anions such as nitrate, 3,5‐dinitro‐1,2,4‐triazolate, picrate, 3‐nitro‐5‐oxo‐1,2,4‐triazolate, dinitromethanide, dinitramide and 5‐nitrotetrazolate, were easily synthesized via quaternization, nitration and metathesis. The salts were fully characterized by Fourier transform infrared (FT‐IR) spectroscopy, ultraviolet‐visible (UV‐Vis) spectroscopy, electrospray ionization mass spectrometry (ESI‐MS), nuclear magnetic resonance (NMR) or elemental analysis. The structure of picrate 4 b was also studied via single crystal X‐ray diffraction. The thermal properties of 2 and 4 a‐f were investigated by differential scanning calorimetry (DSC) and thermo‐gravimetric analysis (TGA). DSC data show that 3, 5‐dinitro‐1, 2, 4‐triazolate 4 a, dinitromethanide 4 d, dinitramide 4 e and 5‐nitrotetrazolate 4 f are typical ionic liquids with a glass transition temperature of −58 °C to −22 °C and a melting point below 100 °C. TGA indicates that 2, 4 a‐c and 4 f have a good thermal stability and a decomposition temperature above 155 °C. Besides, the energetic properties of salts 2 and 4 a‐f were calculated. The detonation velocities of the salts are 6.62–7.42 km/s, approaching those of TNT.
A Metal‐free Approach for the Synthesis of Privileged 4H‐pyrido[1,2‐a]pyrimidin‐4‐one Derivatives over a Heterogeneous Catalyst
Authors: Mathavan Sivagami , Durai Raj Ajith Kumar , Yamajala Rajesh B. R. D. 
Published: September 2019

AbstractThe use of sustainable and efficient heterogeneous catalyst system TsOH‐SiO2 shows unprecedented catalytic efficiency in the synthesis of biologically active 4H‐pyrido[1,2‐a]pyrimidin‐4‐one derivatives from 2‐aminopyridine and β‐oxo esters. The protocol provides advantages such as faster reactivity, high catalytic activities without any additives, high yields, no toxic/corrosive byproducts, broad substrate scope, reusability of the catalyst under solvent‐free conditions and scalable to gram scale, thus having economical and ecological advantages.
Self‐Assemble and In‐Situ Formation of Laponite RDS‐Decorated d‐Ti3C2Tx Hybrids for Application in Lithium‐ion Battery
Authors: He Yan , Zhou Aiguo , Liu Darong , Hu Qianku , Liu Xuqing , Wang Libo 
Published: September 2019

AbstractTwo‐dimensional transition metal carbide materials called MXenes show potential application for energy storage. However, the lower capacity of MXene anodes limits their further application in lithium‐ion batteries. d‐Ti3C2Tx with less layered structure by intercalation and delamination of acoustic degradation method in DMSO (dimethyl sulfoxide). This fabricated fewer sheets samples not only improve the electrical conductibility, specific area, but also reduce the ion diffusion resistance. Here we reported the facile synthesis of new laponite/d‐Ti3C2Tx nanocomposites by the edge positive RDS nanosheets were assembled on negative MXene nanosheets through electrostatic interaction. Structure of laponite RDS/d‐Ti3C2Tx nanocomposites was investigated by scanning electron microscopy (SEM) and transmission electron microscopy (TEM). The characterization results show that the RDS nanosheets were intimately assembled on the d‐Ti3C2Tx nanosheets. The electrochemical properties of the developed nanocomposite as anode materials of lithium‐ion batteries were characterized. Electrochemical tests indicate that the charge‐discharge result of laponite RDS/d‐Ti3C2Tx can deliver an initial specific discharge capacity of 458 mAh⋅g−1 under a current density of 50 mA⋅g−1. And a reversible discharge capacity of 160 mAh⋅g−1 at a current density of 1000 mA⋅g−1, which was significantly higher than that of pure Ti3C2Tx, laponite RDS. The exceptional electrochemical performance of laponite/d‐Ti3C2Tx electrode could be attributed to the improvement of electronic conductivity by d‐Ti3C2Tx and laponite in the laponite/d‐Ti3C2Tx composite.
Hierarchically Nanostructured Hybrid Platform for Tumor Delineation and Image‐Guided Surgery via NIR‐II Fluorescence and PET Bimodal Imaging
Authors: Zhang Qing , Zhou Huijun , Chen Hao , Zhang Xiao , He Shuqing , Ma Lina , Qu Chunrong , Fang Wei , Han Yanjiang , Wang Da , Huang Yuanjian , Sun Yueming , Fan Quli , Chen Yue , Cheng Zhen 
Published: September 2019

AbstractBimodal imaging with fluorescence in the second near infrared window (NIR‐II) and positron emission tomography (PET) has important significance for tumor diagnosis and management because of complementary advantages. It remains challenging to develop NIR‐II/PET bimodal probes with high fluorescent brightness. Herein, bioinspired nanomaterials (melanin dot, mesoporous silica nanoparticle, and supported lipid bilayer), NIR‐II dye CH‐4T, and PET radionuclide 64Cu are integrated into a hybrid NIR‐II/PET bimodal nanoprobe. The resultant nanoprobe exhibits attractive properties such as highly uniform tunable size, effective payload encapsulation, high stability, dispersibility, and biocompatibility. Interestingly, the incorporation of CH‐4T into the nanoparticle leads to 4.27‐fold fluorescence enhancement, resulting in brighter NIR‐II imaging for phantoms in vitro and in situ. Benefiting from the fluorescence enhancement, NIR‐II imaging with the nanoprobe is carried out to precisely delineate and resect tumors. Additionally, the nanoprobe is successfully applied in tumor PET imaging, showing the accumulation of the nanoprobe in a tumor with a clear contrast from 2 to 24 h postinjection. Overall, this hierarchically nanostructured platform is able to dramatically enhance fluorescent brightness of NIR‐II dye, detect tumors with NIR‐II/PET imaging, and guide intraoperative resection. The NIR‐II/PET bimodal nanoprobe has high potential for sensitive preoperative tumor diagnosis and precise intraoperative image‐guided surgery.