bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic Influences on Dental Caries
Authors: Vieira Alexandre R
Published: January 2016

Dental caries is the most common bacteria‐mediated disease in the world despite being highly preventable. It is traditionally described as the interplay among a susceptible host, microbiota and diet. While studies of environmental risk factors have dominated the research effort on cariology, the past decade has demonstrated a growing interest in the factors that are genetically controlled that directly affect the host. The dental enamel, saliva and immune responses and individual behaviours are such factors. Genes involved in dental enamel development have been in the centre of most recent investigations; however, genes related to immune responses and saliva formation appear to be growing in interest. Genetics of behaviour is still an area completely unexplored in the cariology field, with the exception of the known variants that influence individual taste preferences. New insight may come for exploring the genes that are involved in the decision‐making process.

Key Concepts

Dental caries is a bacteria‐mediated disease that is greatly influenced by factors of the host.

Host factors influencing dental caries are genetically influenced.

Our limited understanding of the genetic influences of the host has impaired our ability for preventing dental caries at the population level.
Molecular Genetics of Hereditary Folate Malabsorption
Authors: Watkins David
Published: January 2016

Hereditary folate malabsorption is a genetic disorder that results in the specific inability to absorb ingested folate in the intestine and to transport serum folate across the blood–brain barrier into the cerebrospinal fluid. Absorption of other vitamins and nutrients is unimpaired. Affected individuals come to medical attention during the first year of life with low serum and cerebrospinal folate levels, megaloblastic anaemia and immunologic and neurologic findings. The disorder is inherited as an autosomal recessive trait and is caused by mutations in the
SLC46A1
gene, which encodes the proton‐coupled folate transporter (PCFT). Mutations at
SLC46A1
have been identified in over 30 patients with hereditary folate malabsorption. Several of these result in failure to translocate PCFT at the cell membrane; one was shown to encode a protein that was targeted to the cell membrane but did not support folate uptake.

Key Concepts

Hereditary folate malabsorption is a rare autosomal recessive genetic disorder.

The disorder results in decreased intestinal folate absorption and decreased serum folate levels.

It also results in decreased cerebrospinal fluid folate levels owing to decreased folate transport across the blood–brain barrier.

Patients have megaloblastic anaemia, immunological deficits and, in some cases, neurological problems.

Hereditary folate malabsorption is caused by mutations in the
SLC46A1
gene, which encodes the proton‐coupled folate transporter (PCFT).

Treatment with parenteral folinic acid corrects both haematological and neurological problems in hereditary folate malabsorption.

Study of patients with hereditary folate malabsorption demonstrated that PCFT was the physiological folate transporter in the small intestine.

PCFT and folate receptor α are required for folate transport across the blood–brain barrier.
Molecular Genetics of Preeclampsia
Authors: Williams Paula J
Published: January 2016

Preeclampsia can occur during pregnancy affecting the health of both the mother and her baby during pregnancy. Preeclampsia is known to have a placental origin; however, the pathogenic changes which lead to the development of systemic endothelial dysfunction characteristic of the disorder remain to be determined. The key factors with an underlying genetic component, which are accepted as being important in the development of preeclampsia, include immune maladaptation, inadequate placentation, oxidative stress and thrombosis. For many years, it has been known that preeclampsia has a genetic component, and as such extensive genetic research has been carried out in this area using strategies including candidate gene studies and linkage analysis. Elucidating the exact genetic contribution to this disorder still remains a challenge owing to the complication of interactions between foetal and maternal genotypes, the environment and epistasis.

Key Concepts

The placenta is key to the development of preeclampsia.

Inadequate trophoblast invasion is one of the primary stages involved in the pathogenesis of the severe early onset form of preeclampsia.

Systemic endothelial dysfunction underlies the development of hypertension characteristic of preeclampsia.

Understanding the genetic contribution to preeclampsia is complicated owing to the interaction between maternal and foetal genotypes.

STOX1 and ACVR2A have been identified as potential positional candidate genes in preeclampsia.
Voltammetry: Electrochemical Detection of Neurotransmitters in the Brain
Authors: Patel Jyoti C
Published: January 2016

Voltammetry is an electrochemical technique that capitalises on the ability of some substances to become oxidised or reduced. A variety of voltammetric methods have been developed for the detection of biogenic amines such as dopamine, noradrenaline and serotonin in the brain. Each method differs in selectivity for the transmitter of interest and in temporal resolution. Of these, fast‐scan cyclic voltammetry (FCV) at carbon fibre electrodes has been used extensively for monitoring the evoked or spontaneous release of biogenic amines in various brain regions with temporal and spatial resolutions that capture extrasynaptic transmission. Studies in rodent and non‐rodent brain slices containing either monoamine cell bodies or axonal projections enable the dynamics of neurotransmitter release and its regulation by monoamine transporters, autoreceptors and local neuromodulators to be examined. Furthermore, rapid detection of release in freely moving animals can reveal the role of biogenic amines in motivated behaviour.

Key Concepts

Dopamine, noradrenaline and serotonin are the major biogenic amine transmitters in the brain.

Voltammetry is an electrochemical method that detects the current generated when an electroactive molecule is oxidised; the current generated is directly proportional to the number of molecules oxidised.

Many biologically active substances are electroactive and therefore possess the ability to become oxidised or reduced when a sufficient voltage is applied at a suitable electrochemical electrode.

Carbon fibre microelectrodes are excellent electrochemical sensors for monitoring biogenic amines in the brain.

Fast‐scan cyclic voltammetry (FCV) at carbon fibre microelectrode sensors resolves electroactive compounds by way of their peak oxidation and/or reduction potentials, and is the most popular voltammetric method used to detect neurotransmitter release.

Studies of biogenic amine release regulation using FCV have made significant contributions to our present understanding of neurotransmitter release regulation and the role of monoamines in normal and pathological conditions.

Brain slices have been used extensively for studies of monoamine release regulation using voltammetric methods.
Thermosome: A Group
II
Chaperonin of Archaea
Authors: Yamamoto Yohei Y , Yohda Masafumi
Published: January 2016

Chaperonin, heat shock protein 60, plays an important role in the proteostasis of cytosol. Chaperonins are divided into two groups: group I and group II. Group II chaperonins exist in eukaryotes and archaea, and these chaperonins are named CCT/TRiC and Thermosome, respectively. Group II chaperonins have almost the same structure as group I chaperonins. The main difference is the existence of a helical protrusion, which constitutes a built‐in lid of the cavity. Group II chaperonin captures an unfolded protein in the cavity in the open conformation and changes to the closed conformation in an ATP‐dependent manner, which triggers folding of the captured protein. As Thermosome is relatively stable and simple compared with CCT, the conformational change mechanism and also the interaction with co‐chaperone, Prefoldin, have been studied in detail using Thermosome. The conformational change procedure of Thermosome will give insights on protein folding mechanism by group II chaperonins.

Key Concepts

Group II chaperonin is an essential cytosolic molecular chaperone in eukaryotes and archaea.

The archaeal group II chaperonin is named Thermosome.

Group II chaperonin has a built‐in lid for the central cavity.

As ATP induces a conformational change from the open to the closed conformation, twisting of the ring occurs.

Group II chaperonin cooperates with a co‐chaperone, Prefoldin, which captures an unfolded protein and transfers it to the central cavity of the group II chaperonin.
Does the Clinical Context Improve the Reliability of Rheumatologists Grading Digital Ulcers in Systemic Sclerosis?
Authors: Hughes M. , Roberts C. , Tracey A. , Dinsdale G. , Murray A. , Herrick A. L.
Published: January 2016

Objective

Digital ulcers (DUs) are often a primary end point in systemic sclerosis (SSc; scleroderma) clinical trials, although the reliability of rheumatologists grading DUs is poor to moderate at best. DU assessment in recent trials has been based upon visual inspection alone, which potentially misses “real‐world” clinical contextual information. Our aim was to investigate whether this clinical information improves the reliability of rheumatologists grading DUs. A secondary aim was to assess agreement between patients and rheumatologists.

Methods

Eighty images of a range of digital lesions were collected from patients with SSc with the clinical context: pain (severity and temporal relationship), lesion duration, and discharge (patient reported and clinician observed). Raters received all images either with or without the clinical context, and graded these images (using a custom‐built interface) on an ordinal scale of severity: no ulcer, inactive ulcer, or active ulcer. Patients also graded their lesion(s) on the same scale.

Results

Fifty‐one rheumatologists from 15 countries completed the study (26 without and 25 with context): 4,590 (including 510 repeated) image gradings were obtained. Context did not significantly increase (without and with context) either intra‐ (0.64, 0.71) or interrater (0.32, 0.36) reliability. Pain (visual analog scale and temporal relationship) and discharge (patient reported and clinician observed) were associated with increased lesion severity, and duration with reduced severity. Agreement between individual patients and rheumatologists was poor without and with context (0.19, 0.28).

Conclusion

The overall intra‐ and interrater reliability of DU grading did not significantly improve with the clinical context. Agreement between patients and rheumatologists was poor.
Mechanical Restoration of Damaged Polymer Films by “Repair‐and‐Go”
Authors: Bai Ying , Chang Chia‐Chih , Zhao Xiaojuan , Ribbe Alexander , Bolukbasi Irem , Szyndler Megan J. , Crosby Alfred J. , Emrick Todd
Published: January 2016

A microencapsulation and nanoparticle deposition technique, termed “repair‐and‐go,” is employed for inducing mechanical restoration of damaged polymer films. In “repair‐and‐go,” polymer‐stabilized emulsion droplets, containing surface‐functionalized SiO2 nanoparticles, traverse a substrate and deposit their nanoparticle contents selectively into the damaged regions. Surface‐oxidized poly(dimethylsiloxane) is employed as the substrate, and dynamic mechanical analysis reveals the enhanced mechanical properties of the film following nanoparticle deposition. Healing efficiency is optimal when using thinner test substrates, repeated deposition cycles, and functional SiO2 nanoparticles that afford access to postdeposition curing.
Diffused Phase Transition Boosts Thermal Stability of High‐Performance Lead‐Free Piezoelectrics
Authors: Yao Fang‐Zhou , Wang Ke , Jo Wook , Webber Kyle G. , Comyn Timothy P. , Ding Jing‐Xuan , Xu Ben , Cheng Li‐Qian , Zheng Mu‐Peng , Hou Yu‐Dong , Li Jing‐Feng
Published: January 2016

High piezoelectricity of (K,Na)NbO3 (KNN) lead‐free materials benefits from a polymorphic phase transition (PPT) around room temperature, but its temperature sensitivity has been a bottleneck impeding their applications. It is found that good thermal stability can be achieved in CaZrO3‐modified KNN lead‐free piezoceramics, in which the normalized strain d
33* almost keeps constant from room temperature up to 140 °C. In situ synchrotron X‐ray diffraction experiments combined with permitivity measurements disclose the occurrence of a new phase transformation under an electrical field, which extends the transition range between tetragonal and orthorhombic phases. It is revealed that such an electrically enhanced diffused PPT contributed to the boosted thermal stability of KNN‐based lead‐free piezoceramics with high piezoelectricity. The present approach based on phase engineering should also be effective in endowing other lead‐free piezoelectrics with high piezoelectricity and good temperature stability.
An Optical Sensor Based on a Photonic Polymer Film to Detect Calcium in Serum
Authors: Moirangthem Monali , Arts Remco , Merkx Maarten , Schenning Albertus P. H. J.
Published: January 2016

An optical calcium sensor is fabricated based on a cholesteric liquid crystalline (CLC) polymer containing benzoic acid metal binding sites. A chiral imprinted CLC polymer is made which is subsequently treated with KOH to yield a responsive green reflecting film. On investigation of various metal ions, the polymer film shows a high optical response, and selectivity for calcium ions, which is related to the preorganized binding sites in the ordered liquid crystalline phase, leading to a blue reflecting film. The photonic polymer film is sensitive to Ca2+ within the physiologically relevant concentration range of 10−4 to 10−2 m. Measurement of total calcium concentration in serum is also investigated using the film. The optical responses of normal serum and samples mimicking hypocalcemia and hypercalcemia can be clearly distinguished, providing a cheap, battery‐free, and easy‐to‐use alternative for calcium determination in clinical diagnostics.
Nanoscale Engineering of Designer Cellulosomes
Authors: Gunnoo Melissabye , Cazade Pierre‐André , Galera‐Prat Albert , Nash Michael A. , Czjzek Mirjam , Cieplak Marek , Alvarez Beatriz , Aguilar Marina , Karpol Alon , Gaub Hermann , Carrión‐Vázquez Mariano , Bayer Edward A. , Thompson Damien
Published: January 2016

Biocatalysts showcase the upper limit obtainable for high‐speed molecular processing and transformation. Efforts to engineer functionality in synthetic nanostructured materials are guided by the increasing knowledge of evolving architectures, which enable controlled molecular motion and precise molecular recognition. The cellulosome is a biological nanomachine, which, as a fundamental component of the plant‐digestion machinery from bacterial cells, has a key potential role in the successful development of environmentally‐friendly processes to produce biofuels and fine chemicals from the breakdown of biomass waste. Here, the progress toward so‐called “designer cellulosomes”, which provide an elegant alternative to enzyme cocktails for lignocellulose breakdown, is reviewed. Particular attention is paid to rational design via computational modeling coupled with nanoscale characterization and engineering tools. Remaining challenges and potential routes to industrial application are put forward.
Flexible Nanogenerators for Energy Harvesting and Self‐Powered Electronics
Authors: Fan Feng Ru , Tang Wei , Wang Zhong Lin
Published: January 2016

Flexible nanogenerators that efficiently convert mechanical energy into electrical energy have been extensively studied because of their great potential for driving low‐power personal electronics and self‐powered sensors. Integration of flexibility and stretchability to nanogenerator has important research significance that enables applications in flexible/stretchable electronics, organic optoelectronics, and wearable electronics. Progress in nanogenerators for mechanical energy harvesting is reviewed, mainly including two key technologies: flexible piezoelectric nanogenerators (PENGs) and flexible triboelectric nanogenerators (TENGs). By means of material classification, various approaches of PENGs based on ZnO nanowires, lead zirconate titanate (PZT), poly(vinylidene fluoride) (PVDF), 2D materials, and composite materials are introduced. For flexible TENG, its structural designs and factors determining its output performance are discussed, as well as its integration, fabrication and applications. The latest representative achievements regarding the hybrid nanogenerator are also summarized. Finally, some perspectives and challenges in this field are discussed.
Counterion‐Directed, Structurally Tunable Assembly of Hydrogels, Membranes, and Sacs at Aqueous Liquid–Liquid Interfaces
Authors: Wang Yuefei , Qi Wei , Huang Renliang , Su Rongxin , He Zhimin
Published: January 2016

Counterions play a crucial role in directing the self‐assembly of components in biological systems. In this paper, the self‐assembly of aromatic dipeptides and polysaccharide chitosan is reported at an aqueous liquid–liquid interface. It is shown that subtle modulations in the counterions and pH values allow changes in the self‐assembling pathway localized at the aqueous liquid–liquid interface and thus fabricate materials with distinct structural features and functions, from hydrogels to membranes and hollow sacs. The hydrogel shows strong birefringence and the directional freeze of the gel leads to the formation of macroscopically layered domains with sizes up to centimeters. Moreover, the membranes and sacs exhibit high mechanical strengths, tunable permeabilities, and pH‐responsiveness and have good performance for controlled release. Compared with other self‐assembling peptides, aromatic dipeptides are much smaller and easier to synthesize (low cost). The self‐assembly of these dipeptides with functional polysaccharide chitosan has potential applications in many areas, including large‐scale manufacture of microcapsules for controlled drug release and enzyme immobilization.
Synthesis and Characterization of Novel OAT‐g‐PMMA Matrices: Its Application in Controlled and Colonic Drug Delivery
Authors: Bharti Srijita , Mishra Sumit , Dey Kartick Prasad
Published: January 2016

This research reports synthesis of novel graft copolymers of oatmeal (OAT‐g‐PMMA) using a methyl methacrylate monomer via the “microwave‐assisted” technique which were applied as matrices. The synthesized matrices were used to develop the bioavailability of model drug (5‐amino salicylic acid (5‐ASA)) for colon‐targeted delivery. Characterization of novel synthesized matrices includes intrinsic viscosity, 13C‐CP/MAS solid‐state NMR spectroscopy, FTIR, DSC, SEM, TGA, UV, and elemental analysis. In vitro release studies of 5‐ASA were performed in simulated gastric medium (pH 2) and simulated intestinal medium (pH 7 and 7.4). The release rate of 5‐ASA from OAT‐g‐PMMA matrices was found to be slower than oatmeal in simulated gastric media. However, the reverse trend was observed in simulated intestinal medium. These results suggest that synthesized novel OAT‐g‐PMMA matrices are more suitable for oral delivery of applied model drug as compared to starting biopolymer (oatmeal) with special reference followed by the Fickian diffusion mechanism as a colonic drug carrier.
Solvent‐Free Printing of Flexible Organic Thin Film Transistors by Ultrasonic Welding
Authors: Sasaki Tatsuhiko , Sakai Masatoshi , Ko Tokuyuki , Okada Yugo , Yamauchi Hiroshi , Kudo Kazuhiro , Sadamitsu Yuichi , Shinamura Shoji
Published: January 2016

A novel fabrication technique for making plastic electronics has been developed by applying an ultrasonic welding method that is already widely used in cutting, molding, and joining plastic sheets and parts for many industrial products. One major use of ultrasonic welding is the assembly of blood transfusion bags and other medical supplies, because the inert plastic parts can be joined and sealed without any adhesive agent and within a very short processing time. In this study, the same method is applied to make plastic electronics. The successful fabrication of organic TFTs is shown without affecting the gate insulator layer and the self‐assembled monolayer (SAM) of pentafluorobenzenethiol (PFBT). We therefore demonstrate that ultrasonic welding can also be used to fabricate plastic electronics. Using this process, for example, one could add electronic functionality not only on the surface of a blood transfusion bag, but also in or through the welding margin at the fringe of the bag.
Defining Switching Efficiency of Multilevel Resistive Memory with PdO as an Example
Authors: Rao K. D. M. , Sagade Abhay A. , John Robin , Pradeep T. , Kulkarni G. U.
Published: January 2016

Resistive random access memory (RRAM) is the most promising candidate for next generation nonvolatile memory. In this article, resistive switching in PdO thin film is investigated. The fabricated in‐plane devices showed voltage pulse induced multilevel resistive switching (MRS) with as many as five states under ambient conditions with high degrees of retention and endurance. The I–V characteristics of the different memory states are linear and only a small reading voltage (≈10 mV) is necessary. Raman mapping of PdO (B1g mode, 650 cm–1) and temperature‐dependent electrical transport measurements provide an insight into possible redox mechanism involving PdO/Pd particles. For the first time, the switching efficiency of a MRS device is uniquely defined in terms of a parameter called “multiplex number (M),” which is the sum of the total number of memory states and the ratio between the number of switching events observed in a device and the total number of possible switching events. The present PdO MRS device exhibits the highest M value compared to the values evaluated from the literature examples. Such high performance MRS in PdO devices makes them potential candidates for RRAM and neuromorphic circuit applications.
An Energy‐Efficient, BiFeO3‐Coated Capacitive Switch with Integrated Memory and Demodulation Functions
Authors: You Tiangui , Selvaraj Laveen Prabhu , Zeng Huizhong , Luo Wenbo , Du Nan , Bürger Danilo , Skorupa Ilona , Prucnal Slawomir , Lawerenz Alexander , Mikolajick Thomas , Schmidt Oliver G. , Schmidt Heidemarie
Published: January 2016

A capacitive switching behavior is observed in a Si3N4/p‐Si‐based metal–insulator–semiconductor (MIS) structure due to the electron tunneling at the Si3N4/p‐Si interface. A BiFeO3 (BFO) layer is deposited on Si3N4/p‐Si by pulsed laser deposition technique to obtain the memcapacitive effect as the distribution of positive charges in the Si3N4 layer can be stabilized by the polarization charge of the ferroelectric BFO coating layer. The capacitive switching behavior of the Al/BFO/Si3N4/p‐Si/Au MIS structure is also sensitive to both intensity and wavelength of the illumination, which offers the possibility to create a photodetector for both intensity and color detection. Thus, the presented device has the potential application for future information storage and visible light communications. As an example, a photocapacitive demodulator with capability of decoding both wavelength and intensity information of the incident light is demonstrated.
Local Intermolecular Order Controls Photoinduced Charge Separation at Donor/Acceptor Interfaces in Organic Semiconductors
Authors: Feier Hilary M. , Reid Obadiah G. , Pace Natalie A. , Park Jaehong , Bergkamp Jesse J. , Sellinger Alan , Gust Devens , Rumbles Garry
Published: January 2016

How free charge is generated at organic donor–acceptor interfaces is an important question, as the binding energy of the lowest energy (localized) charge transfer states should be too high for the electron and hole to escape each other. Recently, it has been proposed that delocalization of the electronic states participating in charge transfer is crucial, and aggregated or otherwise locally ordered structures of the donor or the acceptor are the precondition for this electronic characteristic. The effect of intermolecular aggregation of both the polymer donor and fullerene acceptor on charge separation is studied. In the first case, the dilute electron acceptor triethylsilylhydroxy‐1,4,8,11,15,18,22,25‐octabutoxyphthalocyaninatosilicon(IV) (SiPc) is used to eliminate the influence of acceptor aggregation, and control polymer order through side‐chain regioregularity, comparing charge generation in 96% regioregular (RR‐) poly(3‐hexylthiophene) (P3HT) with its regiorandom (RRa‐) counterpart. In the second case, ordered phases in the polymer are eliminated by using RRa‐P3HT, and phenyl‐C61‐butyric acid methyl ester (PC61BM) is used as the acceptor, varying its concentration to control aggregation. Time‐resolved microwave conductivity, time‐resolved photoluminescence, and transient absorption spectroscopy measurements show that while ultrafast charge transfer occurs in all samples, long‐lived charge carriers are only produced in films with intermolecular aggregates of either RR‐P3HT or PC61BM, and that polymer aggregates are just as effective in this regard as those of fullerenes.
The selectivity for sulfur removal from oils: An insight from conceptual density functional theory
Authors: Li Hongping , Zhu Wenshuai , Zhu Siwen , Xia Jiexiang , Chang Yonghui , Jiang Wei , Zhang Ming , Zhou Yuwei , Li Huaming
Published: January 2016

The selectivity for sulfur removal from oils is an important topic. In this work, the selectivity for different sulfur removal methods has been studied by conceptual density functional theory (CDFT) at the B3LYP/6‐311++G(3df,2p) level of theory. In principle, the selectivity is directly related to the mechanisms of sulfur removal. It cannot be precisely elucidated until the mechanisms are totally known. However, current work shows that relationships can be constructed between CDFT and the selectivity. That is, for hydrodesulfurization, good descriptors will be ionization energy, hardness, and bond lengths of SC; for adsorptive desulfurization, the hardness is a good descriptor; for oxidative desulfurization, good descriptors are electron density and Fukui function. And for extractive desulfurization (nonmetal‐based ionic liquids), electron affinity and electrophilicity may be good descriptors. In addition, structures and frontier orbitals of various sulfides have also been discussed. It is hoped that these relationships between CDFT and selectivity can give useful information to develop highly efficient sulfur removal methods for specific sulfides, like 4,6‐dimethyldibenzothiophene, and 4‐methyldibenzothiophene. © 2016 American Institute of Chemical Engineers AIChE J, 62: 2087–2100, 2016
What could you do with 400 years of biological history on african americans? Evaluating the potential scientific benefit of systematic studies of dental and skeletal materials on African Americans from the 17th through 20th centuries
Authors: Jackson Fatimah , Jackson Latifa , Cross Christopher , Clarke Cameron
Published: January 2016

Objectives

How important is it to be able to reconstruct the lives of a highly diverse, historically recent macroethnic group over the course of 400 years? How many insights into human evolutionary biology and disease susceptibilities could be gained, even with this relatively recent window into the past? In this article, we explore the potential ramifications of a newly constructed dataset of Four Centuries of African American Biological Variation (4Cs).

Methods

This article provides initial lists of digitized variables formatted as SQL tables for the 17th and 18th century samples and for the 19th and 20th century samples.

Results

This database is dynamic and new information is added yearly. The database provides novel opportunities for significant insights into the past biological history of this group and three case study applications are detailed for comparative computational systems biology studies of (1) hypertension, (2) the oral microbiome, and (3) mental health disorders.

Conclusions

The 4Cs dataset is ideal for interdisciplinary “next generation” science research and these data represent a unique step toward the accumulation of historically contextualized Big Data on an underrepresented group known to have experienced differential survival over time. Am. J. Hum. Biol. 28:510–513, 2016. © 2016 The Authors American Journal of Human Biology Published byWiley Periodicals, Inc.
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications
Authors: Mekkawy Mona K. , Mazen Inas M. , Kamel Alaa K. , Vater Inga , Zaki Maha S.
Published: January 2016

Many chromosomal rearrangements that lead to copy‐number gains or losses have been shown to cause distinctive and recognizable clinical phenotypes. Conventional cytogenetic analysis can detect many, but not all, rearrangements depending on its power of resolution. The wide use of whole‐genome array‐based comparative genomic hybridization (array‐CGH) techniques has allowed the detection of novel syndromes and to establish genotype–phenotype correlations by delineating at high resolution the regions involved in specific chromosomal aberrations. We report on a two and half‐year‐old female patient with intellectual disability and distinctive phenotypic features resulting from a de novo duplication of about 0.3 Mb in 21q22.3 associated with duplication of about 0.3 Mb in 12p13.33. The patient's chromosomal abnormalities were identified at the cytogenetic molecular level, using SNP array analysis, while GTG banding technique revealed a normal karyotype. Clinical findings of the patient were compared with Down syndrome and 12p duplication syndrome. This study suggests that an area of contiguous genes on the distal part of chromosome 21 (21q22.3) contribute to the Down syndrome phenotype and indicates that genes in the distal region of 12p (12p13.33) account for many facial characteristics and hypotonia of trisomy 12p syndrome. © 2016 Wiley Periodicals, Inc.
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence?
Authors: Tüysüz Beyhan , Ercan‐Sencicek Adife Gülhan , Canpolat Nur , Koparır Asuman , Yılmaz Saliha , Kılıçaslan Işın , Gülez Burcu , Bilguvar Kaya , Günel Murat
Published: January 2016

Mucolipidosis IIIalpha/beta (MLIIIalpha/beta) is a rare lysosomal storage disorder characterized by childhood onset of flexion contractures of fingers, joint stiffness in the shoulders, hips, and knees, and mild short stature. Recessive mutations in the GNPTAB gene have been associated with MLIIIalpha/beta. We present five children aged 9–16 years from a large kindred family whose serum activities of several lysosomal enzymes were significantly elevated. Whole exome sequencing followed by confirmation by Sanger sequencing identified a novel homozygous missense mutation (c.22 A > G; p.R8G) in the GNPTAB gene in all affected subjects. The five patients initially presented with flexion contractures of fingers followed by stiffnes of large joints. Only two affected boys also had a nephrotic‐range proteinuria. Renal biopsy showed focal segmental glomerulosclerosis and foamy appearance of glomerular visceral epithelial cells which were compatible with storage disease. No other known causes of proteinuria could be detected by both laboratory and biopsy findings. There was no known family history of hereditary kidney disease, and healthy siblings and parents had normal renal function and urinalysis. These findings suggest that the renal involvement probably due to MLIIIalpha/beta, although it can still be present by coincidence in the two affected patients. © 2016 Wiley Periodicals, Inc.
The Total Synthesis and Structural Assignment of Hexaketide Xylarinol B and its C1′‐Epimer
Authors: Mullapudi Venkannababu , Ramana Chepuri V.
Published: January 2016

The total synthesis of two isomeric hexaketides isolated along with sordarial, which have the proposed relative arabino and ribo configurations, has been executed. A Rh‐catalyzed [2+2+2]‐alkyne cyclotrimerization has been employed as the key reaction to construct the central dihydroisobenzofuran core. The absolute configuration of the xylarinol B hexaketide has been established as l‐arabino. This is the first natural product of this family for which the absolute configuration has been determined, and this can be extended to provide structural details of several of related hexaketides.
The well‐being of laboratory non‐human primates
Authors: Baker Kate C. , Dettmer Amanda M.
Published: January 2016

The well‐being of non‐human primates in captivity is of joint concern to scientists, veterinarians, colony managers, caretakers, and researchers working with non‐human primates in biomedical research. With increased regulatory, accreditation, and research focus on optimizing the use of social housing for laboratory primates, as well as the advent of techniques to assess indices of chronic stress and related measures of well‐being, there is no better time to present the most current advances in the field of non‐human primate behavioral management. The collective body of research presented here was inspired in part by a 2014 symposium entitled, “Chronic Hormones and Demographic Variables: Center‐Wide Studies on Non‐Human Primate Well‐Being” held at the American Society of Primatologists’ 37th Annual Meeting in Decatur, GA. By aiming to target readership with scientific and/or management oversight of captive primate behavioral management programs, this special issue provides badly‐needed guidance for implementing social housing programs in a research environment and leverages collaboration across multiple facilities to address key components of behavioral management, explore refinements in how well‐being can be measured, and identify the interrelationships between varying indices. Am. J. Primatol. 79:e22520, 2017. © 2016 Wiley Periodicals, Inc.
Electrocatalytic O2 Reduction at a Bio‐inspired Mononuclear Copper Phenolato Complex Immobilized on a Carbon Nanotube Electrode
Authors: Gentil Solène , Serre Doti , Philouze Christian , Holzinger Michael , Thomas Fabrice , Le Goff Alan
Published: January 2016

An original copper‐phenolate complex, mimicking the active center of galactose oxidase, featuring a pyrene group was synthesized. Supramolecular pi‐stacking allows its efficient and soft immobilization at the surface of a Multi‐Walled Carbon Nanotube (MWCNT) electrode. This MWCNT‐supported galactose oxidase model exhibits a 4 H+/4 e− electrocatalytic activity towards oxygen reduction at a redox potential of 0.60 V vs. RHE at pH 5.
A Simple Graphical Method to Determine the Order in Catalyst
Authors: Burés Jordi
Published: January 2016

A graphical analysis to elucidate the order in catalyst is presented. This analysis uses a normalized time scale, t [cat]Tn, to adjust entire reaction profiles constructed with concentration data. The method is fast and simple to perform because it directly uses the concentration data, therefore avoiding the data handling that is usually required to extract rates. Compared to methods that use rates, the normalized time scale analysis requires fewer experiments and minimizes the effects of experimental errors by using information on the entire reaction profile.
Target‐Induced and Equipment‐Free DNA Amplification with a Simple Paper Device
Authors: Liu Meng , Hui Christy Y. , Zhang Qiang , Gu Jimmy , Kannan Balamurali , Jahanshahi‐Anbuhi Sana , Filipe Carlos D. M. , Brennan John D. , Li Yingfu
Published: January 2016

We report on a paper device capable of carrying out target‐induced rolling circle amplification (RCA) to produce massive DNA amplicons that can be easily visualized. Interestingly, we observed that RCA was more proficient on paper than in solution, which we attribute to a significantly higher localized concentration of immobilized DNA. Furthermore, we have successfully engineered a fully functional paper device for sensitive DNA or microRNA detection via printing of all RCA‐enabling molecules within a polymeric sugar film formed from pullulan, which was integrated with the paper device. This encapsulation not only stabilizes the entrapped reagents at room temperature but also enables colorimetric bioassays with minimal steps.
Redox‐Switchable 20π‐, 19π‐, and 18π‐Electron 5,10,15,20‐Tetraaryl‐5,15‐diazaporphyrinoid Nickel(II) Complexes
Authors: Satoh Takaharu , Minoura Mao , Nakano Haruyuki , Furukawa Ko , Matano Yoshihiro
Published: January 2016

The first examples of air‐stable 20π‐electron 5,10,15,20‐tetraaryl‐5,15‐diaza‐5,15‐dihydroporphyrins, their 18π‐electron dications, and the 19π‐electron radical cation were prepared through metal‐templated annulation of nickel(II) bis(5‐arylamino‐3‐chloro‐8‐mesityldipyrrin) complexes followed by oxidation. The neutral 20π‐electron derivatives are antiaromatic and the cationic 18π‐electron derivatives are aromatic in terms of the magnetic criterion of aromaticity. The meso N atoms in these diazaporphyrinoids give rise to characteristic redox and optical properties for the compounds that are not typical of isoelectronic 5,10,15,20‐tetraarylporphyrins.
Removal of nitrate from aqueous solutions in batch systems using activated perlite: an application of response surface methodology
Authors: Baei Mazyar Sharifzadeh , Esfandian Hossein , Nesheli Arash Azizzadeh
Published: January 2016

The aim of this research is to facilitate the adsorption of nitrate on perlite acid treated with dilute H2SO4 solutions. The activated perlite with 0.06 N sulfuric acid resulted in a higher efficiency in the removal of NO3− from aqueous solutions and was adopted for subsequent investigations. To analyze the process, a significant variable, i.e. removal efficiency (%) of nitrate and three dependent parameters as the process responses, was examined through a central composite design under the response surface methodology. The optimum conditions included pH 5, contact time of 120 min and an adsorbent amount of 0.7 g. The percentage removal of NO3− in batch administrations was 91.01. © 2016 The Authors Asia‐Pacific Journal of Chemical Engineering published by Curtin University of Technology and John Wiley & Sons, Ltd.
Dithieno[2,3‐d:2′,3′‐d′]naphtho[2,1‐b:3,4‐b′]dithiophene based medium bandgap conjugated polymers for photovoltaic applications
Authors: Yang Chunyan , Li Huijuan , Tong Junfeng , Li Jianfeng , Zhang Peng , Xia Yangjun
Published: January 2016

Three novel medium band gap (MBG) conjugated polymers (CPs) (named as P1, P2, and P3, respectively) were developed by copolymerizing 2,7‐dibromo‐10,11‐di(2‐hexyldecyloxy)dithieno[2,3‐d:2′,3′‐d′]naphtho[2,1‐b:3,4‐b′]dithiophene (NDT‐Br) with three different units: 2,5‐bis(tributylstannyl)thiophene, 2,5‐bis(trimethylstannyl)thieno[3,2‐b]thiophene and trans−1,2‐bis(tributylstannyl)ethene, respectively. The thermal, optical, and electrochemical properties of the polymers were investigated. All of the polymers have good thermal stability and medium band gap (∼ 1.9 eV). Prototype bulk heterojunction photovoltaic cells based on the blend P1/P2/P3 and [6, 6] phenyl‐C61 butyric acid methyl ester (PC61BM) were assembled and the photovoltaic properties were assessed. Power conversion efficiencies (PCEs) of 1.61% ∼ 2.43% have been obtained under 100 mW cm−2 illumination (AM1.5). © 2016 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2016, 133, 43288.
Water vapor sorption and diffusion in wheat straw particles and their impact on the mass transfer properties of biocomposites
Authors: Wolf Caroline , Guillard Valérie , Angellier‐Coussy Hélène , Silva Gabriella Ghizzi D. , Gontard Nathalie
Published: January 2016

This work intends to decipher the role of hydrophilic fillers, wheat straw fibers (WSF), on the water vapor transfer properties (sorption and diffusion) of biocomposites based on poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate), (PHBV) as matrix. Transfer in biocomposites, measured using dynamical vapor sorption measurement, is correlated to the transfer properties of each individual constituent and to the specific structural arrangements induced by the presence of particles inside the matrix. Increasing amounts of WSF particles in the PHBV matrix lead to an increase of the water vapor sorption (WVS) of the resulting composites. This is attributed to the high sorption of hydrophilic WSF as compared to that of the neat PHBV matrix. Water vapor diffusion in composites (around 0.13 × 10−11 m2 s−1 at 20°C whatever the filler content) is always lower than in the neat matrix (0.26 × 10−11 m2 s−1) although wheat straw displays high diffusivity values (1.84 × 10−11 m2 s−1). Such unexpected behavior is related to (1) changes of structure and properties of the WSF particle once embedded in the PHBV matrix, (2) changes in the polymer matrix structure and properties in contact with fibers, and also (3) to the representativeness of the filler diffusivity, which is difficult to appraise. © 2016 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2016, 133, 43329.
Synthesis and characterization of MC nylon/modified yttrium hydroxide nanocomposites
Authors: Chen Jia , Volinsky Alex A. , He Wei
Published: January 2016

In this article, monomer casting (MC) nylon is synthesized. MC nylon could replace nonferrous metals in certain applications, including gears, wheels, and other moving parts. However, compared with metals, MC nylon products have poor strength and stiffness, and crack easily, especially at low temperatures. In addition, the dimensional stability of MC nylon is poor, especially in the large casting nylon products, causing significant internal stresses due to shrinkage. Thus, MC nylon cracks easily when cast and molded. The yttrium hydroxide particles are modified by stearic acid and dispersed in the caprolactam. The polymerization time is short due to fast anionic polymerization. Copolymerization with different ratios of yttrium hydroxide particles can be used to prepare the copolymer. The effects of different amounts of yttrium hydroxide on the performance of the monomer casting nylon are studied. The products are characterized using X‐ray diffraction, impact, and tensile testing. When the percentage of modified yttrium hydroxide is 0.3 wt %, the composite exhibits the maximum impact strength, thus the 0.3 wt % of modified yttrium hydroxide is the suitable percentage to enhance the impact strength of MC nylon. © 2016 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2016, 133, 43356.
Synthesis and properties of amphiprotic polyacrylamide microspheres as water shutoff and profile control
Authors: Yu Zhisheng , Li Yingcheng , Sha Ou , Su Zhiqing , Zhou Wenle
Published: January 2016

Heat‐ and salt‐resistant amphiprotic polyacrylamide microsphere (APMS) was synthesized using inverse microemulsion polymerization method. The microstructure, swellability, filtration, and core flooding performances were tested and characterized. FT‐IR spectroscopy indicates that APMS was successfully prepared. Morphological analysis reveals that it is relatively uniform and spherical with an average diameter about 50 nm. Its average diameter increases up to 634 nm after aging at 90°C for 7 days in synthetic brine. After aging for 30 days, the particle size is decreased to 482 nm. But the swelling magnification is still 9.6 times its initial diameter. Compared with the traditional microspheres, APMS exhibits excellent thermal stability, salt resistance, and swelling properties. In addition, the plugging factor is in the range of 0.236 to 0.317, and the number of particles for bridge‐plugging is slightly increased from 2 to 4 over aging time. Moreover, the plugging parameters show that APMS can favorably enter and effectively plug the artificial cores with permeability of 0.19 to 0.50 µm2 by deformation, breakthrough and migration, bridging and plugging mechanisms. Furthermore, APMS also shows well its resistance to water flushing and good plugging strength in continuous injection experiment. © 2016 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2016, 133, 43366.
Association Between Ischemic Stroke and Tumor Necrosis Factor Inhibitor Therapy in Patients With Rheumatoid Arthritis
Authors: Low Audrey S. L. , Lunt Mark , Mercer Louise K. , Watson Kath D. , Dixon William G. , Symmons Deborah P. M. , Hyrich Kimme L.
Published: January 2016

Objective

Patients with rheumatoid arthritis (RA) are at an increased risk of ischemic stroke. Tumor necrosis factor inhibitors (TNFi) may influence risk and mortality after ischemic stroke by reducing inflammation. This study was undertaken to examine the association of TNFi with the risk of incident ischemic stroke and with 30‐day and 1‐year mortality after ischemic stroke.

Methods

Patients with RA starting therapy with TNFi and a biologics‐naive comparator group treated with synthetic disease‐modifying antirheumatic drugs (DMARDs) only were recruited to the British Society for Rheumatology Biologics Register for Rheumatoid Arthritis from 2001 to 2009. Patients were followed up via clinical and patient questionnaires as well as the national death register. Incident strokes were classified as ischemic if brain imaging reports suggested ischemia or if ischemic stroke was reported as the underlying cause of death on a death certificate. Patients with a previous stroke were excluded. Risk of ischemic stroke was compared between patients receiving synthetic DMARDs only and those ever‐exposed to TNFi using a Cox proportional hazards regression model adjusted for potential confounders. Mortality after ischemic stroke was compared between synthetic DMARD–treated patients and TNFi‐treated patients using logistic regression, adjusted for age and sex.

Results

To April 2010, 127 verified incident ischemic strokes (21 in 3,271 synthetic DMARD–treated patients and 106 in 11,642 TNFi‐treated patients) occurred during 11,973 and 61,226 person‐years of observation, respectively (incidence rate 175 versus 173 per 100,000 person‐years). After adjustment for confounders, there was no association between ever‐exposure to TNFi and ischemic stroke (hazard ratio 0.99 [95% confidence interval (95% CI) 0.54–1.81]). Mortality 30 days or 1 year after ischemic stroke was not associated with concurrent TNFi exposure (odds ratio 0.18 [95% CI 0.03–1.21] and 0.60 [95% CI 0.16–2.28], respectively).

Conclusion

Exposure to TNFi does not appear to influence the occurrence of ischemic stroke in the medium term in patients with RA. The impact on mortality after ischemic stroke remains inconclusive.
Cloning, expression, and characterization of a novel sialidase from Brevibacterium casei
Authors: Wang Xuedong , Long Hui , Shen Danhong , Liu Long
Published: January 2016

The sialidase gene from Brevibacterium casei was cloned in pET28a and overexpressed as a histidine‐tagged protein in Escherichia coli BL21(DE3). The histidine‐tagged sialidase protein was purified and characterized from the crude cell extracts of isopropyl‐β‐d‐thiogalactopyranoside‐induced cells using Ni‐NTA agarose chromatography. SDS‐PAGE using the purified sialidase indicated a single band at 116 kDa. This sialidase showed maximum activity at a pH of 5.5 and temperature of 37 °C. The kinetic parameters Km and Vmax for the artificial substrate 2′‐(4‐methylumbelliferyl)‐α‐d‐N‐acetyl‐neuraminic acid sodium salt hydrate were 1.69 × 10−3 mM and 244 mmol·Min−1·mg−1, respectively. The sialidase may catalyze the hydrolysis of terminal sialic acids linked by the α‐(2,3) and α‐(2,8) linkage of polysialogangliosides, but it does not act on monosialotetrahexosylganglioside (GM1), which offers it a great potential for commercially producing GM1 from polysialogangliosides.