bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
Authors: Zhao Peiwei , Zhang Lei , Tan Li , Luo Sukun , Huang Yufeng , Peng Hanming , Cao Jiangxia , He Xuelian 
Published: July 2021

AbstractBackgroundCongenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins. COG6‐CDG is a kind of disorder caused by conserved oligomeric golgi complex 6 (COG6) deficiency. To date, only 19 patients with COG6‐CDG have been reported.MethodsWe report a girl in a Chinese family with developmental delay, growth retardation, microcephaly, abnormal liver function, and hypohidrosis. Trio whole‐exome sequencing was performed for this patient and her parents, and the variants identified were validated by Sanger sequencing. Prenatal diagnosis was done for this family during a subsequent pregnancy. The literature review on these patients was performed by reviewing articles published in English and Chinese.ResultsGenetic sequencing identified two novel heterozygous mutations: c.428G>T (p.S143I) and c.1843C>T (p.Q615X) in the COG6 gene, inherited from her healthy parents, respectively. A total of 11 different mutations in COG6 have been reported previously, and mutations potentially affecting splicing are the most common. The main clinical features included development delay, facial dysmorphism, growth retardation, skin abnormalities (hypohidrosis), microcephaly, abnormal brain structure, liver involvement, and recurrent infections.ConclusionOur work broadens the mutation spectrum of COG6 gene and states the importance of whole‐exome sequencing in facilitating the definitive diagnosis of this disorder and prenatal diagnosis in a subsequent pregnancy.
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II
Authors: Liu Haifeng , Tao Na , Wang Yan , Yang Yang , He Xiaoli , Zhang Yu , Zhou Yuantao , Liu Xiaoning , Feng Xingxing , Sun Meiyuan , Xu Fang , Su Yanfang , Li Li 
Published: July 2021

AbstractBackgroundMicrocephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre‐ and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene.MethodsWe evaluated the clinical features of a 10‐year and 7‐month‐old Chinese girl with MOPD II. Subsequently, next‐generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively.ResultsThe patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin‐like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient.ConclusionOur study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II.
Effects of the Mediterranean Diet or Nut Consumption on Gut Microbiota Composition and Fecal Metabolites and their Relationship with Cardiometabolic Risk Factors
Authors: Galié Serena , García‐Gavilán Jesús , Camacho‐Barcía Lucía , Atzeni Alessandro , Muralidharan Jananee , Papandreou Christopher , Arcelin Pierre , Palau‐Galindo Antoni , Garcia David , Basora Josep , Arias‐Vasquez Alejandro , Bulló Mònica 
Published: July 2021

ScopeTo examine whether a Mediterranean Diet (MedDiet) compared to the consumption of nuts in the context of a habitual non‐MedDiet exerts a greater beneficial effect on gut microbiota and fecal metabolites; thus, contributing to explain major benefits on cardiometabolic risk factors.Methods and ResultsFifty adults with Metabolic Syndrome are randomized to a controlled, crossover 2‐months dietary‐intervention trial with a 1‐month wash‐out period, following a MedDiet or consuming nuts (50 g day‐1). Microbiota composition is assessed by 16S rRNA gene sequencing and metabolites are measured using Nuclear Magnetic Resonance (NMR) and liquid chromatography coupled to triple quadrupole mass spectrometry (LC‐qTOF) platforms in a targeted metabolomics approach.Decreased glucose, insulin and the homeostatic model assessment of insulin resistance (HOMA‐IR) is observed after the MedDiet compared to the nuts intervention. Relative abundances of Lachnospiraceae NK4A136 and an uncultured genera of Ruminococcaceae are significantly increased after the MedDiet compared to nuts supplementation. Changes in Lachnospiraceae NK4A136 are inversely associated with insulin levels and HOMA‐IR, while positively and negatively with changes in cholate and cadaverine, respectively.ConclusionsFollowing a MedDiet, rather than nuts, induces a significant increase in Lachnospiraceae NK4A136 and improves the metabolic risk. This genera seems to affect the bile acid metabolism and cadaverine which may account for the improvement in insulin levels.
Daily Dose of Bovine Lactoferrin Prevents Ethanol‐Induced Liver Injury and Death in Male Mice by Regulating Hepatic Alcohol Metabolism and Modulating Gut Microbiota
Authors: Li Deming , He Qian , Yang Huanhuan , Du Yafang , Yu Kangqing , Yang Jing , Tong Xing , Guo Yaxin , Xu Jiaying , Qin Liqiang 
Published: July 2021

ScopeLactoferrin (Lf) possess a protective potential to liver, but whether it can prevent alcoholic liver injury (ALI) remains unclear.Methods and ResultsFour groups of male C57BL/6J mice are fed with different diets, namely, AIN‐93G diet for control (CON) and ethanol (EtOH) groups, and AIN‐93G diet with 0.4% and 4% casein replaced by Lf for low‐dose Lf (LLf) and high‐dose Lf (HLf) groups, respectively. ALI is induced by giving 20% ethanol ad libitum combined with four “binges”. Lf can remarkably decrease EtOH‐induced mortality. Lf promotes aldehyde dehydrogenase‐2 (ALDH2) expression and suppressing cytochrome P450 2E1 (CYP2E1) overexpression, resulting in the reduced hepatic superoxide and inflammation levels, which ultimately leads to the hepatic injury alleviation. However, HLf increases acetyl‐CoA carboxylase and fatty acid synthase protein levels, which suggests that excessive intake may weaken the beneficial effects of Lf. Moreover, LLf increases the relative abundances of Akkermansia and Lactobacillus. Additionally, the study shows that Lf likely exerts action in its digestive product forms rather than intact Lf molecular in normal condition.ConclusionLLf can ameliorate ALI, which is associated with the regulation of hepatic alcohol metabolism and the modulation of gut microbiota. However, excessive Lf intake may result in a diminished benefit.
Sensitization Potency of Sunflower Seed Protein in a Mouse Model: Identification of 2S‐Albumins More Allergenic Than SFA‐8
Authors: Achour Jihana , Guinot Marine , Guillon Blanche , Kapel Romain , Galet Olivier , Adel‐Patient Karine , Hazebrouck Stéphane , Bernard Hervé 
Published: July 2021

ScopeFood allergy to sunflower seed (SFS) protein is not frequent and only non‐specific lipid transfert protein (nsLTP) Hel a 3 is officially recognized as a food allergen. Out of the eleven seed storage 2S‐albumins (SESA) detected in SFS, only SFA‐8 allergenicity has been investigated so far. The study aimed then to evaluate SFS protein allergenicity and particularly, to compare the sensitization potency of SESA in a mouse model.Methods and ResultsThe most abundant SESA and nsLTP were isolated from SFS through a combination of chromatographic methods. Purified proteins were then used to measure specific IgG1 and IgE responses in BALB/c mice orally sensitized to different SFS protein isolates. The study, thus, confirmed the allergenicity of SFA‐8 and Hel a 3 but mice were also highly sensitized to other SESA such as SESA2‐1 or SESA20‐2. Furthermore, competitive inhibition of IgE‐binding revealed that SFA‐8 IgE‐reactivity was due to cross‐reactivity with other SESA. 11S‐globulins were weakly immunogenic and were rapidly degraded in an in vitro model of gastroduodenal digestion. In contrast, Hel a 3, SESA2‐1 and SFA‐8 were more resistant to proteolysis and gastroduodenal digestion did not affect their IgE‐reactivity.ConclusionsSESA2‐1 or SESA20‐2 were more potent allergens than SFA‐8 in this mouse model. Allergenicity of SESA must be now confirmed in SFS‐allergic patients.
Performance evaluation of optical carrier suppressed RZ‐DPSK signal in WDM networks employing OFC
Authors: Ullah Sibghat , Tian Feng , Qi Zhang , Ali Amjad , Khan Jahangir , Khan Muhammad Saad , Xin Xiangjun 
Published: July 2021

AbstractA new arrangement of optical frequency comb and its deployment in a wavelength division multiplexed optical network is proposed and demonstrated. The generated optical carriers are separated by a frequency spacing of 10GHz and the overall spectra comprise 63 individual optical carriers. These carriers are identified and separated by utilizing rectangle optical filters, and 10Gbps data is modulated on each carrier frequency. The data is modulated using carrier suppressed return to zero differential phase‐shift keying (CSRZ‐DPSK) modulation technique. Furthermore, the performance analysis of DPSK and CSRZ‐DPSK (presuppressed RZ‐DPSK, postsuppressed RZ‐DPSK, and suppression of multiplexed DPSK signal) are studied in details. In our analysis, it is observed that the three suppression techniques produce almost the same level of suppression, however, the bit error rate and Q factor differ. It has been observed that the postsuppressed DPSK modulation scheme offers more tolerance towards chromatic dispersion and other fiber impairments and nonlinearities such as self‐phase modulation and offers better overall performance. The results are analyzed in terms of BER performance, Q‐factor, and eye‐opening penalty.
Duopolistic positioning and pricing competition with variety‐seeking and strategic consumers
Authors: Shang Weixin , Tong Shilu , Wang Yunjie 
Published: July 2021

AbstractThis paper examines a duopolistic market in which two firms compete on their positioning and pricing decisions. Consumers may be variety‐seeking or non‐variety‐seeking, and strategic or myopic, in their repeated purchases. The competing firms first determine the positioning and then the prices in two selling periods under either price commitment or dynamic pricing. Contrary to the conventional wisdom that variety‐seeking consumers are less profitable consumers, we find that firms may benefit from more variety‐seeking consumers under either pricing scheme when some of these consumers are myopic. Strategic consumer behavior always intensifies the competition and hurts the firms. Under each pricing scheme, either myopic variety‐seeking consumers or non‐variety‐seeking consumers can be the most profitable consumer group, while strategic variety‐seeking consumers are always the least preferred consumer group. Compared with dynamic pricing, price commitment softens horizontal competition and increases profits. When the firms can choose freely between price commitment and dynamic pricing before they engage in pricing competition, they may adopt asymmetric pricing schemes in equilibrium.
Synthesis and Antiprotozoal Profile of 3,4,5‐Trisubstituted Isoxazoles
Authors: Rosa Fernanda Andreia , Mendes de Souza Melo Samara , Pianoski Karlos Eduardo , Poletto Julia , dos Santos Mariellen Guilherme , Vieira da Silva Michael Jackson , Lazarin‐Bidóia Danielle , Volpato Hélito , Moura Sidnei , Nakamura Celso Vataru 
Published: July 2021

AbstractA series of 60 4‐aminomethyl 5‐aryl‐3‐substituted isoxazoles were synthesized by an efficient method and evaluated in vitro against Leishmania amazonensis and Trypanosoma cruzi, protozoa that cause the neglected tropical diseases leishmaniasis and Chagas disease, respectively. Thirteen compounds exhibited a selective index greater than 10. The series of 3‐N‐acylhydrazone isoxazole derivatives bearing the bithiophene core exhibited the best antiparasitic effects.
Association of BRAF V600E mutations with vasoactive intestinal peptide syndrome in MYCN‐amplified neuroblastoma
Authors: Shahid Sanam , Kushner Brian H. , Modak Shakeel , Basu Ellen M. , Rubin Elyssa M. , Gundem Gunes , Papaemmanuil Elli , Roberts Stephen S. 
Published: July 2021

AbstractVery rarely, vasoactive intestinal peptide‐related diarrhea (VIP‐D) is observed in patients with high‐risk neuroblastoma (HR‐NB) where the associated fluid and electrolyte abnormalities can pose a major clinical challenge for administering the required aggressive multimodality treatment. Two patients with HR‐NB developed VIP‐D during induction and were found to have a somatic BRAF V600E mutation. Serum VIP levels and diarrhea promptly resolved in both patients after initiating treatment with BRAF and MEK inhibitors. This illustrates an association of VIP‐D with BRAF V600E mutations and demonstrates a therapeutic strategy in the specific context of VIP‐D and BRAF V600E mutations in HR‐NB patients. The addition of BRAF and MEK inhibitors allows continued conventional tumor‐directed treatment by decreasing the severity of symptoms caused by this life‐threatening complication.
Tribological and mechanical fracture performance of Mediterranean lignocellulosic fiber reinforced polypropylene composites
Authors: AL‐Oqla Faris M. , Hayajneh Mohammed T. , Aldhirat Amal 
Published: July 2021

AbstractNatural fiber‐reinforced polymeric composites are considered one of the newest materials in the industry. Ecological concerns have led to a growing need of using ecofriendly materials. This work aimed to study the dynamic and quasi‐static performance as well as tribological characteristics of Mediterranean lignocellulosic fiber‐reinforced polypropylene composites. Various types of Jordanian lignocellulosic fibers were utilized in the study, namely, hay, lemon, palm, and reed. Composites with various reinforcement structures were designed, prepared, and utilized for the investigations. Wear performance and coefficient of friction as well as various mechanical performance characteristics including tensile strength, tensile modulus, elongation to break, and impact strength were performed. Results have demonstrated that composites have led to different significant characteristics. The hay/polypropylene composites were revealed to have good mechanical performance enhancements. Their maximum value of the tensile modulus was 1557.2 MPa in the case of 30 wt% fiber content. It was also demonstrated that their maximum value of toughness was about 1031 kJ/m3 in the case of 20 wt% fiber content. However, the increase of fiber loading more than 20 wt% was found to make negative effects on the toughness characteristics. Moreover, it was found that most of the considered Jordanian lignocellulosic fibers were capable of enhancing most of the mechanical performance characteristics of the composites, particularly, the stiffness property. The coefficient of friction was also found variable with fiber loading as well as fiber type. The maximum coefficient of friction value was for the composites with 30 wt% hay, while the lowest was found for composites that contained palm and reed at 10 wt%. The work had demonstrated that the features of Jordanian natural fibers were potential and competitive regarding their elasticity, toughness, interfacial adhesive potency, accessibility, and polypropylene compatibility due to their desired intrinsic mechanical characteristics. This would contribute to the finding of low‐cost environmentally friendly materials for various bio‐product applications with reliable mechanical performance, and could attribute more sustainable design possibilities.
Registration of twoOryza sativatropicaljaponicagermplasm lines selected for panicle architecture and grain size traits
Authors: Eizenga Georgia C. , McClung Anna M. , Huggins Trevis D. 
Published: July 2021

AbstractTwo rice (Oryza sativaL.) germplasm lines, SC14_166 (Reg. no. GP‐148, PI 698103) and SC14_072 (Reg. no. GP‐147, PI 698102), containing alleles for increased panicle branching, seeds per panicle, and grain length were developed by the USDA‐ARS. They are recombinant inbred lines selected from a cross of ‘Estrela’ (GSOR 301227) and NSFTV199 (GSOR 301190), both of tropicaljaponicaorigin. SC14_166 is a medium grain cultivar and contains alleles for two major genes,SPIKELET NUMBERon chromosome (chr.) 4 andFRIZZY PANICLEon chr. 7, which result in a greater number of primary branches, seeds per panicle, and panicle weight compared with the parents. SC14_072 is an extra‐long grain cultivar and contains alleles for two major genes on chr. 3,GRAIN SIZE 3andGRAIN LENGTH 3.2, resulting in greater grain length, width, thickness, and kernel weight. The germplasm lines possessPi‐ks, whereas SC_072 also hasPi‐z, both of which are major genes for resistance to rice blast disease. These germplasm lines are well adapted to growing conditions in the southern United States and will benefit long‐grain and medium‐grain breeding programs that desire to increase grain dimensions and panicle architecture traits. Because they are derived from the tropicaljaponicasubpopulation like most U.S. cultivars, they will be highly compatible for making breeding crosses and will contribute novel alleles to the gene pool.
Insights into the low‐temperature deposition of a dense anatase TiO2 film via an atmospheric pressure pulse‐modulated plasma
Authors: Xu Yu , He Tao , Zhang Yu , Wang Haozhe , Guo Ying , Shi Jianjun , Du Chengran , Zhang Jing 
Published: July 2021

AbstractA pulse‐modulated atmospheric pressure radio frequency (RF) plasma is used to prepare a dense TiO2 thin film at a low temperature. With certain plasma on time (Ton = 50 ms), the discharge temperature decreases with plasma off time (Toff), and the lengths of the thin films increase. An anatase TiO2 thin film was successfully deposited on a temperature‐sensitive substrate (polyethylene terephthalate). The transmission electron microscope (TEM) results show that the film is composed from anatase TiO2 nanoparticles grown through plasma in 0.07 s. By using laser light scattering, the TiO2 particles are found to be trapped above the substrate at about 0.27 mm during plasma on, which is close to the simulated plasma sheath thickness (0.26 mm). The deposition mechanism of pulse‐modulated atmospheric pressure RF plasma has been investigated.
Protein structure prediction using deep learning distance and hydrogen‐bonding restraints in CASP14
Authors: Zheng Wei , Li Yang , Zhang Chengxin , Zhou Xiaogen , Pearce Robin , Bell Eric W. , Huang Xiaoqiang , Zhang Yang 
Published: July 2021

AbstractIn this article, we report 3D structure prediction results by two of our best server groups (“Zhang‐Server” and “QUARK”) in CASP14. These two servers were built based on the D‐I‐TASSER and D‐QUARK algorithms, which integrated four newly developed components into the classical protein folding pipelines, I‐TASSER and QUARK, respectively. The new components include: (a) a new multiple sequence alignment (MSA) collection tool, DeepMSA2, which is extended from the DeepMSA program; (b) a contact‐based domain boundary prediction algorithm, FUpred, to detect protein domain boundaries; (c) a residual convolutional neural network‐based method, DeepPotential, to predict multiple spatial restraints by co‐evolutionary features derived from the MSA; and (d) optimized spatial restraint energy potentials to guide the structure assembly simulations. For 37 FM targets, the average TM‐scores of the first models produced by D‐I‐TASSER and D‐QUARK were 96% and 112% higher than those constructed by I‐TASSER and QUARK, respectively. The data analysis indicates noticeable improvements produced by each of the four new components, especially for the newly added spatial restraints from DeepPotential and the well‐tuned force field that combines spatial restraints, threading templates, and generic knowledge‐based potentials. However, challenges still exist in the current pipelines. These include difficulties in modeling multi‐domain proteins due to low accuracy in inter‐domain distance prediction and modeling protein domains from oligomer complexes, as the co‐evolutionary analysis cannot distinguish inter‐chain and intra‐chain distances. Specifically tuning the deep learning‐based predictors for multi‐domain targets and protein complexes may be helpful to address these issues.
Protein tertiary structure prediction and refinement using deep learning and Rosetta in CASP14
Authors: Anishchenko Ivan , Baek Minkyung , Park Hahnbeom , Hiranuma Naozumi , Kim David E. , Dauparas Justas , Mansoor Sanaa , Humphreys Ian R. , Baker David 
Published: July 2021

AbstractThe trRosetta structure prediction method employs deep learning to generate predicted residue‐residue distance and orientation distributions from which 3D models are built. We sought to improve the method by incorporating as inputs (in addition to sequence information) both language model embeddings and template information weighted by sequence similarity to the target. We also developed a refinement pipeline that recombines models generated by template‐free and template utilizing versions of trRosetta guided by the DeepAccNet accuracy predictor. Both benchmark tests and CASP results show that the new pipeline is a considerable improvement over the original trRosetta, and it is faster and requires less computing resources, completing the entire modeling process in a median < 3 h in CASP14. Our human group improved results with this pipeline primarily by identifying additional homologous sequences for input into the network. We also used the DeepAccNet accuracy predictor to guide Rosetta high‐resolution refinement for submissions in the regular and refinement categories; although performance was quite good on a CASP relative scale, the overall improvements were rather modest in part due to missing inter‐domain or inter‐chain contacts.
The contribution of nano‐based strategies in overcoming ceftriaxone resistance: a literature review
Authors: Tewabe Ashagrachew , Marew Tesfa , Birhanu Gebremariam 
Published: July 2021

AbstractAntimicrobial drug resistance, including resistance to multiple antibiotics, is continuously increasing. According to research findings, many bacteria resistant to other antibiotics were susceptible to ceftriaxone. However, over the last few years, ceftriaxone resistance has become growing and extremely worrisome challenge to the global healthcare system and several strategies have been initiated to contain the spread of antimicrobial drug resistance. Its extended use for therapeutic or preventative measures in humans and farm animals resulted in the development and spread of resistance. Recent advances in nanotechnology also offer novel formulations based on distinct types of nanostructure particles with different sizes and shapes, and flexible antimicrobial properties. For ceftriaxone, several nanostructured formulations through conjugation, intercalation, encapsulation with lipid carrier, and polymeric films have been investigated by different groups with promising results in combating the development of resistance. This review addressed the existing knowledge and practice on the contribution of nano‐based delivery approaches in overcoming ceftriaxone resistance. Evidences have been generated from published research articles using major search electronic databases such as PubMed, Medline, Google Scholar, and Science Direct.