bluuebunny/crossref_metadata_2025 huggingface dataset:
Calibration and validation of water vapour lidar measurements from Eureka, Nunavut using radiosondes and the Atmospheric Chemistry Experiment fourier transform spectrometer
Authors: Moss A. , Sica R. J. , McCullough E. , Strawbridge K. , Walker K. , Drummond J.
Published: August 2012

Abstract. The Canadian Network for the Detection of Atmospheric Change and Environment Canada DIAL lidar located at the Polar Environment Atmospheric Research Laboratory (PEARL) in Eureka, Nunavut has been upgraded to measure water vapour mixing ratio profiles at 150 m vertical resolution. The system is capable of measuring water vapour in the dry arctic atmosphere up to the tropopause region. Measurements were obtained in the February to March polar sunrise during 2007, 2008 and 2009 as part of the Canadian Arctic ACE Validation Campaign. Before such measurements can be used to address important questions in understanding dynamics and chemistry, the lidar measurements must be calibrated against an independent determination of water vapour. Here, radiosonde measurements of relative humidity have been used to calibrate the lidar measurements. It was found that the calibration varied significantly between each campaign. However, the calibration of the lidar during an individual polar sunrise campaign agrees with the local radiosonde measurements to better than 12% below 6 km altitude. To independently validate the calibration of the lidar derived from the radiosondes, comparisons are made between the calibrated lidar measurements and water vapour measurements from the Atmospheric Chemistry Experiment satellite-borne Fourier Transform Spectrometer. The comparisons between the lidar and satellite for both campaign averages and single overpasses show favourable agreement between the two instruments and help validate the comparison with the radiosondes.
XCO2-measurements with a tabletop FTS using solar absorption spectroscopy
Authors: Gisi M. , Hase F. , Dohe S. , Blumenstock T. , Simon A. , Keens A.
Published: August 2012

Abstract. A commercial low-resolution (0.5 cm−1) Fourier-Transform-Spectrometer (FTS) has been modified and is used for determining the total column XCO2 of the atmosphere by analyzing direct solar radiation. The spectrometer has a small home-built solar tracker attached, so that it is a ready-to-use instrument. The results are validated with temporally coinciding on-site measurements taken with a high-resolution Total Carbon Column Observing Network (TCCON) FTIR-spectrometer. For the whole comparison period of 5 months (26 measurement days) an agreement with TCCON-results of (0.12 ± 0.08)% is achieved. This makes the spectrometer a promising candidate for a low-cost addition to the TCCON core FTIR sites, especially suitable for locations with limited infrastructure. An impressive mechanical and thermal stability is proved, enabling the spectrometer for use in field campaigns and for the monitoring of local sources.
Metabolic balance of a plankton community in a pelagic water of a northern high latitude fjord in response to increased pCO2
Authors: Tanaka T. , Alliouane S. , Bellerby R. G. J. , Czerny J. , de Kluijver A. , Riebesell U. , Schulz K. G. , Silyakova A. , Gattuso J.-P.
Published: August 2012

Abstract. The effect of ocean acidification on the balance between gross community production (GCP) and community respiration (CR) (i.e. net community production, NCP) of plankton communities was investigated in summer 2010 in Kongsfjorden, West of Svalbard. Surface water, which was characterized by low concentrations of dissolved inorganic nutrients and chlorophyll, was enclosed in 9 mesocosms and subjected to 8 pCO2 levels (2 replicated controls and 7 enhanced pCO2 treatments) for one month. Nutrients were added to all mesocosms on day 13 of the experiment, and thereafter increase of chlorophyll (index of phytoplankton biomass) was provoked in all mesocosms. No clear trend in response to increasing pCO2 was found in the daily values of NCP, CR, and GCP. For further analysis, these parameters were cumulated for the following three periods: phase 1: end of CO2 manipulation until nutrient addition (t4 to t13); phase 2: nutrient addition until the second chlorophyll minimum (t14 to t21); phase 3: the second chlorophyll minimum until the end of this study (t22 to t28). Significant response was detected as a decrease of NCP with increasing pCO2 during phase 3. CR was relatively stable throughout the experiment in all mesocosms. As a result, the cumulative GCP significantly decreased with increasing pCO2 during phase 3. After the nutrient addition, the ratios of cumulative NCP to cumulative consumption of NO3 and PO4 showed significant decrease during phase 3 with increasing pCO2. The results suggest that elevated pCO2 influenced cumulative NCP and stoichiometric C and nutrient coupling of the plankton community in a high latitude fjord only for a limited period. However provided that there were some differences or weak correlations between NCP data based on different methods in the same experiment, this conclusion should be taken with caution.
Influence of orbital forcing and solar activity on water isotopes in precipitation during the mid and late Holocene
Authors: Dietrich S. , Werner M. , Spangehl T. , Lohmann G.
Published: August 2012

Abstract. In this study we investigate the impact of mid and late Holocene orbital forcing and solar activity on variations of the oxygen isotopic composition in precipitation. Our study is based on a set of novel climate simulations performed with the atmosphere general circulation model ECHAM5-wiso enhanced by explicit water isotope diagnostics. From the performed model experiments we derive the following major results: (1) the response of both orbital and solar forcing lead to changes in surface temperatures and δ18O in precipitation with similar magnitudes during the mid and late Holocene. (2) Past δ18O anomalies correspond to changing temperatures in the orbital driven simulations. This does not hold true if an additional solar forcing is added. (3) Two orbital driven mid Holocene experiments, simulating the mean climate state approximately 5000 and 6000 yr ago, yield very similar results. However, if an identical additional solar activity-induced forcing is added, the simulated changes of surface temperatures as well as δ18O between both periods differ. From our findings we conclude that the Holocene variability of δ18O in precipitation, as stored in many paleoclimate archives, is rather complex to understand since the combined effect of different external forcings on δ18O in precipitation is non-linear.
The Glazer Protocol: Evidence-Based Medicine Pelvic Floor Muscle (PFM) Surface Electromyography (SEMG)
Authors: Glazer Howard I. , Hacad Claudia R.
Published: August 2012

The authors cite a Medline review article of biofeedback for urinary incontinence to demonstrate the pervasive lack of standardized operationally defined variables, which precludes the application of evidence-based-medicine standards to the field. As an example of an early-stage evidence-based-medicine model, the Glazer Protocol demonstrates how empirically derived and operationally defined SEMG characteristics hold great promise for a better understanding of the pathophysiology of urinary incontinence and can assist in both diagnosis and treatment of this disorder.
Multi-Modal Assessment and Treatment of Chronic Headache: The First in a Series of Case Studies
Authors: Donaldson C. C. Stuart , Rozell Christopher J. , Moran P. Doneen , Harlow Erin N.
Published: August 2012

The treatment of headache is challenging, and is made more so by the fragmentation of medicine into clinical specialties. Physiologically, migraine headache is a systemic event, affecting multiple neurophysiological systems. Treatment often calls for a multidisciplinary approach. Research supports the efficacy of both general biofeedback and, to a lesser extent, neurofeedback in the treatment of headache, including migraine. Abnormal electrophysiological patterns, detectable with quantitative EEG, are frequently found in patients with migraine, especially after closed head injury. Research has also shown the frequent presence of trigger point activity in several areas of the musculature of the head and neck in headache patients, including those with migraine. Finally, the role of stress has been reported in the onset and exacerbation of headache pain. The authors provide a case study showing the application of quantitative EEG, surface electromyography (SEMG), and psychophysiological stress profiling in the assessment of a 56-year-old female with closed head injury and migraine headache. The treatment included myofascial massage with trigger point release, SEMG training to balance asymmetric muscle tension patterns, and a stress management program, including guided visualization and breath training. This comprehensive intervention produced a significant reduction in headache symptoms and an improvement in work productivity.
Paramedics Manage the Airway Easier with Laryngeal Mask Airway Than with Intubation during Simulated CPR Scenarios
Authors: Bassiakou Eleni , Stroumpoulis Konstantinos , Xanthos Theodoros
Published: August 2012

Objectives. In this study, we investigated whether minimally trained paramedics with no previous experience in securing the airway would be more efficient in placing laryngeal mask airway (LMA) than intubating the trachea with direct laryngoscopy using 2 manikin scenarios: without chest compressions (non-CPR scenario) and with continuous chest compressions (CPR scenario). Methods. One hundred and twenty-four paramedics with no previous experience in managing the airway comprised our study population. Three 20 min lectures on the anatomy of the airway and endotracheal intubation with the Macintosh blade and LMA placement were given. Each participant attempted to insert a LMA or to intubate a manikin with the Macintosh blade using 2 different scenarios: without chest compressions and with continuous chest compressions. Results. All participants managed to place a LMA in both scenarios, but only 85% of them managed to intubate the trachea using the Macintosh blade in the non-CPR and even less than (80%) in the CPR scenario. Insertion of the LMA was statistically significantly faster than intubation with the Macintosh blade in both scenarios ().
Conclusions. Our results provide evidence that for minimally trained paramedics, LMA insertion is much faster than endotracheal intubation.
Menadione : Sodium Orthovanadate Combination Eliminates and Inhibits Migration of Detached Cancer Cells
Authors: Delwar Zahid M. , Siden Åke , Cruz Mabel H. , Yakisich Juan S.
Published: August 2012

Exposure of cancer cells to anticancer agents in cultures induces detachment of cells that are usually considered dead. These drug-induced detached cells (D-IDCs) may represent a clinical problem for chemotherapy since they may survive anoikis, enter the circulation, invade other tissues and resume proliferation, creating a metastasis, especially in tissues where the bioavailability of anticancer agents is not enough to eliminate all cancer cells. In this study we evaluated the antiproliferative effect of menadione : sodium orthovanadate (M : SO) combination on A549 lung cancer cells as well as the ability of M : SO to induce cell detachment. In addition, we followed the fate and chemosensitivity of M : SO-induced detached cells. Using transwell chambers, we found that a fraction of the M : SO-induced detached cells were viable and, furthermore, were able to migrate, re-attach, and resume proliferation when re-incubated in drug-free media. The total elimination of A549 detachment-resistant cells and M : SO-induced detached cells were successfully eliminated by equivalent M : SO concentration (17.5 μM : 17.5 μM). Thus, M : SO prevented cell migration. Similar results were obtained on DBTRG.05MG human glioma cells. Our data guarantee further studies to evaluate the in vivo occurrence of D-IDCs, their implications for invasiveness and metastasis and their sensitivity to anticancer drugs.
Polychaete distribution pattern on the Valencian Community coast, Spanish Mediterranean
Authors: Del-Pilar-Ruso Y , De-la-Ossa-Carretero JA , Giménez-Casalduero F , Sánchez-Lizaso JL
Published: August 2012

Changes in benthic community structure are strongly related to environmental factors, and we need to determine how these natural changes occur in order to interpret the possible changes associated with anthropogenic impacts. The aim of this survey was to characterize and classify the polychaete assemblages inhabiting unpolluted soft bottoms in the Spanish Mediterranean in relation to environmental factors. Thirteen localities were sampled at depths between 9 and 31 m, from 2004 to 2006. Multivariate techniques showed that the structure of polychaete assemblages detected in 2004 was consistent over time and correlations between polychaetes and environmental factors were detected. The study area comprises four kinds of communities mainly characterized by polychaete assemblages, sediment types, and depth.
Ecological regionalization of Zalophus californianus rookeries, as a tool for conservation in the Gulf of California
Authors: Szteren D , Aurioles Gamboa D
Published: August 2012

California sea lion (Zalophus californianus) rookeries in the Gulf of California are structured genetically in distinct groups. Despite this evidence for regional differentiation, the sea lion population of the Gulf of California is managed as a single unit. To prioritize the allocation of limited resources for conservation and to improve the effectiveness of management actions, ecological differences among rookeries should also be considered. This is important to be able to further define and subsequently manage the rookeries on a regional level. The aim of the present study was to identify patterns of similarity among California sea lion rookeries in the Gulf of California, using nine demographic, biological, ecological, and biogeochemical databases: population censuses, trace metal content in bone, diet diversity, presence of Leptospira serovarieties, stable isotopes, incidence of osteoarthritis, sea surface temperature, and chlorophyll a concentration. A second objective was to characterize each region on the basis of these variables in order to focus management efforts. To examine the overall structure of the sea lion rookeries in the Gulf of California, we analyzed data for different combinations of variables and rookeries using multivariate analysis. The scenario with the highest explanatory power resulted in the separation of the rookeries into four groups: Northern Gulf, Ángel de la Guarda, Central Gulf, and Southern Gulf. Diet and sea surface temperature were the variables that contributed most strongly to the definition of the groups. Groupings showed geographic coherence and were consistent with previously proposed genetic units and oceanographic regions of the Gulf of California. The resulting multivariate pattern should facilitate the management of California sea lion rookeries, provide better tools to protect against environmental contingencies, and help to guide future management plans.
Feeding habits of three round stingrays (Rajiformes: Urotrygonidae) in the central Mexican Pacific
Authors: Flores-Ortega JR , Godínez-Domínguez E , González-Sansón G , Rojo-Vázquez JA , Corgos A , Morales-Jáuregui MY
Published: August 2012

Stomach contents and dietary overlap of three round stingray species (Urobatis halleri, Urotrygon munda, and Urotrygon rogersi) captured off the central Pacific coast of Mexico were analyzed during the two main hydroclimatic periods (T1 and T2) that characterize the environmental variability in the area. The three round stingray species showed a narrow bathymetric distribution range, and the highest abundances were located at 20 m depth in both seasons. In general, the diets were mainly composed of benthic microcrustaceans (caridean shrimps) and to a lesser extent of fishes, polychaetes, and molluscs. The most abundant prey items in the diets were carideans of the families Processidae and Ogyriididae, and penaeids, followed by brachyuran and stomatopod larvae. All three stingrays exhibited a generalist feeding strategy. The diets showed high overlap values during period T1 in both inter- and intraspecies analyses, but lower values during period T2. There was no evidence of ontogenetic diet changes and sex was not a factor for trophic differences. The slight differences among diets were due to seasonal changes in the soft-bottom macrobenthic invertebrate assemblages in the shallow waters, and relationships like predation and competition were not the main factors influencing the population dynamics of the three stingray species.
Characterization of culturable bacteria in larval cultures of the Chilean scallop Argopecten purpuratus
Authors: Godoy F , Espinoza M , Wittwer G , Uriarte I , Aranda C
Published: August 2012

The early stages of culture of the Chilean scallop Argopecten purpuratus are affected by the mortality attributed to the presence of pathogenic bacteria. The purpose of this study was to characterize the culturable bacteria present in larval cultures of A. purpuratus in the presence and absence of antibiotic (Tetracycline). Bacterial counts on marine agar from water, algal, and larval samples from the culture units were carried out. These counts were performed every three days during 20 days of incubation. The bacterial strains isolated from count plates were identified by 16S rDNA gene sequence analysis. Additionally, the total bacterial counts from culture water were determined by epifluorescence microscopy. Culturable bacterial counts of water samples ranged from 8 × 103 to 3 × 104 CFU mL–1. These counts represent from 3% to 18% of the total bacterial counts. The culturable bacterial counts in larvae were between 3 × 107 and 3 × 108 CFU g–1 and were on average higher in the absence of antibiotic (P < 0.05). Microalgal bacterial counts ranged from 1 × 104 to 9 × 104 CFU mL–1. Of the 46 strains isolated and identified, 25 (54%) belonged to the Gammaproteobacteria, 11 (24%) to the Bacilli, 5 (11%) to the Actinobacteria, 4 (9%) to the Alphaproteobacteria, and 1 (2%) to the Flavobacteria. The most dominant genera in the water samples were Alteromonas, Brevibacterium, Bacillus, Microbacterium, and Marinobacter, while the most dominant genera in larvae were Pseudoalteromonas, Bacillus, Marinobacterium, Alteromonas, and Vibrio, from a total of 15 different bacterial genera identified. The survival of larvae decreased drastically during the 20 days of culture, showing no differences to antimicrobial treatments. The results indicate that there is a high diversity of culturable bacteria present in the larvae, and most are different from those found in the water and microalgae supplied as food.
Isolation and prepurification of active compounds in venom from Pelagia noctiluca (Scyphozoa: Pelagiidae) from the Caribbean Sea
Authors: Sánchez-Rodríguez J , Lucio-Martínez NL
Published: August 2012

Crude extract from Pelagia noctiluca was purified using liquid chromatography. The isolated fractions were tested in sea crabs (Ocypode quadrata) and neurotoxic activity was observed. The protein content of the crude extract, quantified by the Bradford method, was 0.25 mg mL–1. Polyacrylamide gel electrophoresis was used to determine the apparent molecular weight of the different fractions of the crude extract, and several bands were identified: 34, 48, and between 90 and 200 kDa. Haemolytic activity in human blood type A+ was 100% with 1.1 µg mL–1 and 50% with 0.98 µg mL–1 of crude extract. The crude extract was observed under a microscope and three types of nematocysts were found: heterotrichous microbasic eurytele, heterotrichous isorhiza, and holotrichous isorhiza.
Volumetric-Modulated Arc Radiotherapy for Skull-Base and Non-Skull-Base Head and Neck Cancer: A Treatment Planning Comparison with Fixed Beam IMRT
Authors: Chen Jianzhou , Mok Edward , Wang Lilie , Chen Chuangzhen , Le Quynh-Thu
Published: August 2012

The purpose of this study is to compare the dose distribution, monitor units (MUs) and radiation delivery time between volumetric-modulated arc (VMAT) and fix-beam intensity modulated radiotherapy (FB-IMRT) in skull-base and non-skull-base head and neck cancer (HNC). CT datasets of 8 skull-base and 7 non-skull-base HNC were identified. IMRT and VMAT plans were generated. The prescription dose ranged 45–70 Gy (1.8–2.2 Gy/fraction). The VMAT delivery time was measured when these plans were delivered to the patients. The FB-IMRT delivery time was generated on a phantom. Comparison of dose-volume histogram data, MUs, and delivery times was performed using T-test. Our results show that both plans yield similar target volume coverage, homogeneity, and conformity. In skull-base cases, compared to FB-IMRT, VMAT generated significantly smaller hot-spot inside PTV (2.0% vs. 4.5%, p = 0.031), lower maximum chiasm dose (32 ± 11 Gy vs. 41 ± 15 Gy, p = 0.026), lower ipsilateral temporal-mandibular joint dose (D33: 41.4 Gy vs. 46.1 Gy, p = 0.016), lower mean ipsilateral middle ear dose (43 ± 9 Gy vs. 38 ± 10 Gy, p = 0.020) and a trend for lower optic nerve, temporal lobe, parotid, and oral cavity dose. In non-skull-base cases, doses to normal tissues were similar between the two plans. There was a reduction of 70% in MUs (486 ± 95 vs. 1614 ± 493, p < 0.001) and 73% in delivery times (3.0 ± 0.6 vs. 11.0 ± 3.3 min, p < 0.001) favoring VMAT. We conclude that VMAT appears to spare more normal tissues from high radiation dose for the tested skull-base tumors. Dosimetrically, both approaches were equivalent for non-skull-base tumor with VMAT using fewer MUs and shorter delivery time.
High Control Rate for Lymph Nodes in Cervical Cancer Treated with High-Dose Radiotherapy using Helical Tomotherapy
Authors: Kim Y. J. , Kim J. Y. , Yoo S. H. , Min B. J. , Chung K. Z. , Seo S. S. , Kang S. B. , Lim M. C. , Hwang J. H. , Yoo H. J. , Park S. Y.
Published: August 2012

The purpose of this study was to evaluate whether bulky lymphadenopathy located in the abdominopelvic cavity in cervical cancer can be controlled without severe toxicity by increasing radiation dose using helical tomotherapy. From January 2007 to December 2010, 26 patients with cervical cancer with metastatic lymph nodes (LNs) having at least one short diameter > 1.5 cm were treated with helical tomotherapy. A total of 58 LN sites were treated and the largest LN of each site was evaluated for response. Median follow-up time was 28 months (4–50 months). Median short diameter of the LNs was 1.7 cm (0.7–4.2 cm) with median radiation dose of 62.6 Gy10 in 2 Gy equivalent dose (53.3–77.9 Gy10). Initial LN response was evaluated on imaging obtained within 4 months after radiotherapy. Initial complete response (CR), partial response (PR), and stable disease (SD) were observed in 54, 2 and 2 lesions, respectively. Recurrence occurred in two with CR and progression in one with PR. Therefore, final CR, PR, SD, and progression of disease were observed in 52, 1, 2, and 3, respectively. Actuarial 3-year LN progression-free survival and overall survival (OS) were 63% and 65%, respectively. Multivariate analysis revealed final LN response (CR vs. non-CR) as a strong prognostic factor for OS (p = 0.016). Radiation Therapy Oncology Group grade 2 or more acute and late toxicity was observed in 8 and 1 patients, respectively. The treatment of bulky lymphadenopathy using helical tomotherapy in advanced cervical cancer is highly effective and has acceptable toxicity.
CT-Guided Percutaneous Chemoablation using an Ethanol-Ethiodol-Doxorubicin Emulsion for the Treatment of Metastatic Lymph Node Carcinoma: A Comparative Study
Authors: Liu S-.H. , Xiao Y-.Y. , Pivert P. J. Le , Wu B. , Zhang X. , Ma X-.Y. , Ren C.
Published: August 2012

Current therapies for metastatic lymph node (LN) are a major burden on health-care systems. Alternative such as percutaneous chemoablation using interstitial injection of ethanol or ethanol-ethiodol-drug(s) mixture (EEM) has been successfully applied to solid tumor ablation of the liver, adrenal glands, lymph nodes and others. However, EEM chemoablation efficacy on two most frequent clinical lymph node presentation, isolated or confluent, has not yet been determined. This study was designed to compare the therapeutic effects of CT-guided percutaneous EEM injection (PEEMI) on patients presenting with single or multiple confluent metastatic LN localizations from various carcinoma. Thirty six patients with metastatic LN carcinoma at various anatomical regions were enrolled from 2009 to 2010 over a nine month period. They were separated into two groups: group A includes 24 single isolated metastatic lymph nodes and group B includes 12 multiple and confluent nodes. The primary end point was the ablative efficacy of PEEMI. The intratumoral (IT) EEM distribution and the occurrence of reflux were recorded. Adjuvant systemic chemotherapy was administered after the procedure. Contrast-enhanced CT scans were performed during procedure and follow-up. Six patients were tested for Fluorodeoxyglucose (FDG) fixation before and after the procedure. For group A the EEM IT distribution-to-tumor ratio was 100% vs. 50% to 80% for group B (t = 11.5, p < 0.05). The reflux frequency was 80% for group A versus 30% for group B. For group A, a complete response (CR) rates of 45.8%, 70.8%, 91.7% and a partial response (PR) rates of 54.2%, 29.2%, 8.3% were obtained at 3, 6 and 12 months after therapy. Regarding group B, a CR rate of 0%, 0%, 0% and PR rate of 16.7%, 50%, 58.3% were observed at similar period of time. Standardized rate by direct method was performed and the CR rate (74.5%) for group A was higher than for group B. The tumor FDG uptake was lower 6 months after PEEMII compared with the preoperative images. Five patients presenting with concomitant lung metastasis, had a good local response-node size reduction on postoperative CT scanning, but no response on lung nodules that were progressing. No serious adverse events were observed. A few patients had mild pain during the procedure, which resolved with peritumor injection of local anesthetic. No needle tract seeding or infection occurred. CT-guided PEEMI treatment is a simple, fast and predictable procedure that has better effectiveness on single, well circumscribed metastatic lymph node than on multiple and confluent ones. Technical improvements are expected to bring better results on large nodes that should be confirmed on larger group of patients.
Polymeric Micelles
Authors: Du Jianzhong , Lu Hang
Published: August 2012

Macromolecular self‐assembly has provided a good means by which to selectively assemble polymers into well‐defined nanostructures such as polymeric micelles, vesicles, and other morphologies. The polymeric micelles are good candidates for the application in drug delivery, gene delivery, and nanoreactors. In this review, the basic concepts and the recent advances in the preparation and application of polymeric micelles are presented. Polymeric micelles that respond to external stimuli such as pH, temperature, redox, and light, to afford a change in structure, morphology, or controlled release event are also introduced. Finally, we summarize the current limitations and the perspective in the preparation and application of polymeric micelles.

This video details technique to template nanoscale morphologies formed by block copolymers:
micellar
(left) and
vesicular
(right) structures can be generated by tuning the ratio of their hydrophobic (red) to hydrophilic (gray) parts.

Block‐copolymers form micellar (left) and vesicular (right) morphologies by tuning the ratio of their hydrophobic (red) to hydrophilic (gray) parts.

media object

Block‐copolymers form micellar (left) and vesicular (right) morphologies by tuning the ratio of their hydrophobic (red) to hydrophilic (gray) parts.
TiN Nanofibers: A New Material with High Conductivity and Transmittance for Transparent Conductive Electrodes
Authors: Li Heping , Pan Wei , Zhang Wei , Huang Siya , Wu Hui
Published: August 2012

Motivated by the rising cost of tin‐doped indium oxide (ITO), the search for new transparent electrode materials to replace ITO is ongoing. TiN exhibits high electric conductivity, however, it is generally non‐transparent. Here, nanostructured TiN fiber patterns are synthesized on quartz glass and the resulting materials have a combination of high electric conductivity and optical transparency. A low sheet resistance of 15.8 Ohm sq−1 at 84% transparency is achieved on TiN nanofiber arrayed quartz glass. The achievements show a successful integration of electric and optical properties in ceramic nanofibers and provide a method for finding new materials to replace traditional ITO‐based transparent electrodes.
Charge Disproportionation and Voltage‐Induced Metal–Insulator Transitions Evidenced in β‐PbxV2O5 Nanowires
Authors: Marley Peter M. , Stabile Adam A. , Kwan Chun Pui , Singh Sujay , Zhang Peihong , Sambandamurthy G. , Banerjee Sarbajit
Published: August 2012

The roster of materials exhibiting metal–insulator transitions with sharply discontinuous switching of electrical conductivity close to room temperature remains rather sparse, despite the fundamental interest in the electronic instabilities manifested in such materials and the plethora of potential technological applications ranging from frequency‐agile metamaterials to electrochromic coatings and Mott field‐effect transistors. Here, unprecedented, pronounced metal‐insulator transitions induced by application of a voltage are demonstrated for nanowires of a vanadium oxide bronze with intercalated divalent cations, β‐PbxV2O5 (x ≈ 0.33). The induction of the phase transition through application of an electric field at room temperature makes this system particularly attractive and viable for technological applications. A mechanistic basis for the phase transition is proposed based on charge disproportionation evidenced at room temperature in near‐edge X‐ray absorption fine structure (NEXAFS) spectroscopy measurements, ab initio density functional theory calculations of the band structure, and electrical transport data, suggesting that transformation to the metallic state is induced by melting of specific charge localization and ordering motifs extant in these materials.
Highly Oriented Nanofibrils of Regioregular Poly(3‐hexylthiophene) Formed via Block Copolymer Self‐Assembly in Liquid Crystals
Authors: Tong Xia , Han Dehui , Fortin Daniel , Zhao Yue
Published: August 2012

A novel method making use of block copolymer self‐assembly in nematic liquid crystals (LCs) is described for preparing macroscopically oriented nanofibrils of π‐conjugated semiconducting polymers. Upon cooling, a diblock copolymer composed of regioregular poly(3‐hexylthiophene) (P3HT) and a liquid crystalline polymer (LCP) in a block‐selective LC solvent can self‐assemble into oriented nanofibrils exhibiting highly anisotropic absorption and polarized photoluminescence emission. An unusual feature of the nanofibrils is that P3HT chains are oriented along the fibrils' long axis. This general method makes it possible to use LCs as an anisotropic medium to grow oriented nanofibrils of many semiconducting polymers insoluble in LCs.
Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene
Authors: Delahaye Andrée , Khung‐Savatovsky Suonavy , Aboura Azzedine , Guimiot Fabien , Drunat Séverine , Alessandri Jean‐Luc , Gérard Marion , Bitoun Pierre , Boumendil Julien , Robin Stéphanie , Huel Chan , Guilherme Romain , Serero Stéphane , Gressens Pierre , Elion Jacques , Verloes Alain , Benzacken Brigitte , Delezoide Anne‐Lise , Pipiras Eva
Published: August 2012

FOXC1 deletion, duplication, and mutations are associated with Axenfeld–Rieger anomaly, and Dandy–Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing FOXC1. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed ocular anterior segment dysgenesis suggestive of Axenfeld–Rieger anomaly. Five 6p25 deletions were terminal, including two derived from inherited reciprocal translocations; the remaining 6p25 deletion was interstitial. The size and breakpoints of these deletions were characterized using comparative genomic hybridization arrays. All six deletions included FOXC1. Our data confirm that FOXC1 haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions. Histopathological features of Axenfeld–Rieger anomaly were clearly identifiable before the beginning of the third‐trimester of gestation. © 2012 Wiley Periodicals, Inc.
Maternal and infant gene–folate interactions and the risk of neural tube defects
Authors: Etheredge Analee J. , Finnell Richard H. , Carmichael Suzan L. , Lammer Edward J. , Zhu Huiping , Mitchell Laura E. , Shaw Gary M.
Published: August 2012

Neural tube defects (NTDs) are common, serious malformations with a complex etiology that suggests involvement of both genetic and environmental factors. The authors evaluated maternal or offspring folate‐related gene variants and interactions between the gene variants and maternal intake of folates on the risk of NTDs in their offspring. A case–control study was conducted on mothers and/or their fetuses and infants who were born in California from 1999 to 2003 with an NTD (cases n = 222, including 24 mother–infant pairs) or without a major malformation (controls n = 454, including 186 mother–infant pairs). Maternal intake of folates was assessed by food frequency questionnaire and genotyping was performed on samples from mothers and infants. For mothers in the lowest folate‐intake group, risk of NTDs in offspring was significantly decreased for maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 (odds ratio [OR] = 0.55, 80% confidence interval [CI]: 0.20, 1.48; OR = 0.58, 80% CI: 0.24, 1.43; OR = 0.69, 80% CI: 0.41, 1.17, respectively), and TYMS SNPs rs502396 and rs699517 (OR = 0.91, 80% CI: 0.53, 1.56; OR = 0.70, 80% CI: 0.38, 1.29). A gene‐only effect was observed for maternal SHMT1 SNP rs669340 (OR = 0.69, 95% CI: 0.49, 0.96). When there was low maternal folate intake, risk of NTDs was significantly increased for infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 (OR = 1.58, 80% CI: 0.99, 2.51; OR = 1.53, 80% CI: 0.95, 2.47; OR = 4.25, 80% CI: 2.33, 7.75, respectively) and SHMT1 SNP rs12939757 (OR = 2.01, 80% CI: 1.20, 3.37), but decreased for TYMS SNP rs2847153 (OR = 0.73, 80% CI: 0.37, 1.45). Although power to detect interaction effects was low for this birth defects association study, the gene–folate interactions observed in this study represent preliminary findings that will be useful for informing future studies on the complex etiology of NTDs. © 2012 Wiley Periodicals, Inc.
17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability
Authors: Coutton Charles , Devillard Francoise , Vieville Gaëlle , Amblard Florence , Lopez Gipsy , Jouk Pierre‐Simon , Satre Véronique
Published: August 2012

Many deletions of chromosome 17p13.1 have been described, but very few 17p13.1 duplications have been reported yet. Here, we describe the genotype and phenotype of a boy with a duplication of this region. The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver–Russell syndrome (SRS) appearance with small triangular face, prominent forehead, micrognathia, low‐set ears, and clinodactyly. Array‐CGH revealed a 586 kb duplication containing many genes with a high neuronal expression. Interestingly, this region covers the minimal critical region including all candidate genes suggested to explain the 17p13.1 microdeletion syndrome. In the neighboring region 17p13.3, deletions and duplications of the same region are each responsible of a specific phenotype. Future case descriptions will show if a similar mechanism applies to the region 17p13.1. The 17p13.1 region contains interesting putative candidate genes that might be involved in the SRS etiology. Additional data are needed to verify the significance of this aberration. © 2012 Wiley Periodicals, Inc.
Analysis of selected maternal exposures and non‐syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005.
Authors: Patel Sonali S. , Burns Trudy L. , Botto Lorenzo D. , Riehle‐Colarusso Tiffany J. , Lin Angela E. , Shaw Gary M. , Romitti Paul A. ,   the National Birth Defects Prevention Study
Published: August 2012

Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non‐genetic risk factors have not been consistently identified. Using data (1997–2005) from the National Birth Defects Prevention Study, an ongoing multisite population‐based case–control study, the association between selected non‐genetic factors and non‐syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non‐smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1–2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0–2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs. © 2012 Wiley Periodicals, Inc.
De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype
Authors: Cirillo Emilia , Romano Rosa , Romano Alfonso , Giardino Giuliana , Durandy Anne , Nitsch Lucio , Genesio Rita , Di Gregorio Eleonora , Cavalieri Simona , Abate Giovanna , Del Vecchio Luigi , Brusco Alfredo , Pignata Claudio
Published: August 2012

We report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3–13q14.11 and determined the loss of ≥50 genes. A second deletion on chromosome 12p11.3p11.22 of 43–167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had developmental delay, dysmorphisms, and many features reminiscent of ataxia‐telangiectasia (A‐T), as cerebellar ataxia, oculocutaneus telangiectasia, and recurrent upper airway infections. Atraumatic fractures of the metatarsus were noted. Moreover, this is a rare case of 13q deletion syndrome associated with peripheral blood white cells radiosensitivity to bleomycin, reminiscent of what previously reported on X‐ray hypersensitivity of fibroblasts from patients with alterations of this chromosome. The immunological evaluation revealed increased IgM serum levels and a low proliferative response to mitogens, PHA, and CD3 cross‐linking (CD3 XL). After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age. © 2012 Wiley Periodicals, Inc.
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome
Authors: Peltekova Iskra T. , Macdonald Athen , Armour Christine M.
Published: August 2012

The rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3. While most of these deletions involve the 3p terminus, interstitial deletions may also give rise to features of the syndrome. We have detected an interstitial deletion of 643 kb in a patient who displayed many of the typical 3p deletion features. This patient had a number of findings in common with a previously reported patient, who had a 1.6 Mb interstitial deletion, including cognitive handicap, seizures, and congenital heart defects. A 518 kb region of overlap containing 12 genes may prove to be a critical region for some of these features. The putative functions of several genes, such as CRELD1, SRGAP3, CAMK1, TADA3, and MTMR14 are discussed with respect to their potential involvement in the 3p deletion syndrome phenotype. We suggest that this 518 kb area of overlap may define a critical region, which when deleted, can give rise to the 3p deletion syndrome phenotype. © 2012 Wiley Periodicals, Inc.
Immune‐mediated disorders among women carriers of fragile X premutation alleles
Authors: Winarni Tri Indah , Chonchaiya Weerasak , Sumekar Tanjung Ayu , Ashwood Paul , Morales Guadalupe Mendoza , Tassone Flora , Nguyen Danh V. , Faradz Sultana M.H. , Van de Water Judy , Cook Kylee , Hamlin Alyssa , Mu Yi , Hagerman Paul J. , Hagerman Randi J.
Published: August 2012

The relative risk of immune‐mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19–81 years; mean 46.35 and SD 12.60) and 72 controls (age 18–87 years; mean 52.40 and SD 15.40). One hundred fifty four (44.77%) women carrier had at least one IMD, as did 20 controls (27.78%). Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud's phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sjögren syndrome (2.6%), systemic lupus erythematosus (SLE; 2.03%), multiple sclerosis (1.74%). Of 55 carriers age 40 or older with FXTAS, 72.73% had at least one IMD, compared to 46.54% of those without FXTAS (n = 159), and 31.58% of controls (n = 57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2–5.6, P = 0.015) for women with FXTAS relative to those without FXTAS; the likelihood of IMD in carriers without or with FXTAS was also significantly higher than for controls (OR 2.1, 95% CI 1.1–4.2, P = 0.034; OR 5.5, 95% CI 2.4–12.5, P < 0.001, respectively). Similarly, the odds of having an IMD among carriers with FXPOI is about 2.4 times higher when compared to carriers without FXPOI (95% CI 1.1–5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1–5.0; P = 0.021) compared to that of controls. © 2012 Wiley Periodicals, Inc.
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran
Authors: Babanejad Mojgan , Fattahi Zohreh , Bazazzadegan Niloofar , Nishimura Carla , Meyer Nicole , Nikzat Nooshin , Sohrabi Elahe , Najmabadi Amin , Jamali Peyman , Habibi Farkhonde , Smith Richard J.H. , Kahrizi Kimia , Najmabadi Hossein
Published: August 2012

Hearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most often resulting in nonsyndromic deafness (70%), which is usually autosomal recessive (∼80%). Although the cause of hearing loss is heterogeneous, mutations in GJB2 gene at DFNB1 locus are the major cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Our previous study showed that mutations of GJB2 gene do not contribute to the major genetic load of deafness in the Iranian population (∼16%). Therefore, to define the importance of other genes in contributing to an ARNSHL phenotype in the Iranian population, we used homozygosity mapping to identify regions of autozygosity‐by‐descent in 144 families which two or more progeny had ARNSHL but were negative for GJB2 gene mutations. Using flanking or intragenic short‐tandem repeat markers for 33 loci we identified 33 different homozygous variations in 10 genes, of which 9 are novel. In aggregate, these data explain ∼40% of genetic background of ARNHSL in the Iranian population. © 2012 Wiley Periodicals, Inc.
A novel mutation in the SHH long‐range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency
Authors: Al‐Qattan Mohammad M. , Al Abdulkareem Ibrahim , Al Haidan Yazied , Al Balwi Mohammed
Published: August 2012

Sonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero‐posterior axis of limb development. The ZRS (zone of polarizing activity regulatory sequence) is a long‐range limb‐specific SHH enhancer. Several point mutations in the ZRS have been described in humans. These mutations cause enhanced SHH activity and ectopic anterior expression of SHH and a variable phenotype of preaxial polydactyly and triphalangeal thumb. Absent thumb or radius has not been reported with ZRS mutations. Here, we report on a family with a variable phenotype of preaxial polydactyly as well as absent thumb and radius, with kidney and cardiac defects. The family was screened for SALL1, SALL4, and TBX5 mutations, but all were normal. Finally, they were screened for ZRS mutations, which showed a novel point mutation within the ZRS, NG_009240.1: g.106954C>T (traditional nomenclature: ZRS619C>T) in the five affected members. This mutation was not previously reported in any public domain database, and was not found in our healthy and ethnically matched control individuals or unaffected family members. We hypothesize that interactions of SHH and SALL1 explain the overlapping features of the family described here and patients with Townes–Brocks syndrome. © 2012 Wiley Periodicals, Inc.
Synthesis, magnetic properties, DNA binding and cleavage activity of a new oxalato bridged copper(II) complex
Authors: Wang Zhi‐gang , Kou Ying‐ying , Lu Jing , Gao Chun‐yan , Tian Jin‐lei , Yan Shi‐ping
Published: August 2012

A novel oxalato‐bridged copper(II) complex has been prepared and structurally characterized: [Cu(bpa)(μ‐C2O4)].H2O (bpa = bis(2‐pyridylmethyl) amine). In the complex, the copper ion is linked in an unusual μ1,2,3‐C2O42− bridging mode, generating one‐dimensional zigzag chain disposition. Variable‐temperature magnetic susceptibility studies (2–300 K) reveal a weak ferromagnetic coupling, J = 0.63 cm−1, between the copper ions. The interaction of the complex with CT‐DNA has been studied using UV–visible absorption and emission spectral methods, and the binding constant of the complex with CT‐DNA is Kapp = 9 × 104 m−1, which indicates that the interaction of the complex with DNA is a moderate intercalative mode. Furthermore, the complex cleaves supercoiled plasmid DNA efficiently in the presence of hydrogen peroxide. The mechanistic investigations suggest that the hydroxyl radical and singlet oxygen are involved in the DNA degradation. Copyright © 2012 John Wiley & Sons, Ltd.
Zn[(L)Proline]2: an eligible candidate for the synthesis of xanthenediones in water
Authors: Kidwai Mazaahir , Jain Arti
Published: August 2012

An efficient route for the condensation of aldehydes with dimedone in the presence of Zn[(L)Proline]2 in water has been reported. Hydrophilicity of the catalyst is the main attribute of this reaction. The water‐mediated reaction using catalytic amounts of recyclable catalyst avoids the use of expensive, corrosive reagents and toxic solvents and provides operational simplicity. Moreover, column chromatography and recrystallization of product are not required as the crude products itself are very pure and hence can be used for target‐oriented synthesis on a large scale. Copyright © 2012 John Wiley & Sons, Ltd.