Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.     

Physicochemical Properties of Palm Oil-Based Puff Pastry Model Margarines Related to Their Baking Performance in Long-Term Storage

Developing trans-free alternative fat solutions suitable for specific applications remains a challenge in edible fats and other domains. This is particularly true for palm oil-based puff pastry margarines, which suffer from post crystallization problems, leading to dramatic loss of functionality. This research is aimed at investigating the influence of triacylglycerol (TAG) compositions of palm oil-based puff pastry margarines on the physical properties of the fat crystal network, which determine the functionality of such products. Three model puff pastry margarines are produced at pilot scale under the same crystallization conditions. They share the same fatty acid composition and close solid fat content (SFC) profiles, whereas the proportions of major TAG (tripalmitoylglycerol (PPP), 1,3-di-palmitoyl-2-oleoylglycerol (POP), 1,2-di-palmitoyl-3-oleoylglycerol (PPO), 1,2-dioleoyl-3-palmitoylglycerol (POO)) are different. Polymorphism, melting profile, hardness, microscopic structures, and baking performance (puffing effect) of the model fats are examined during a period of 6 months. The following results are obtained: 1) The TAG composition significantly influences the post crystallization processes occurring in palm oil-based margarines. 2) High amounts of POP show negative influences. 3) The proportions of POP, PPO, and PPP should be carefully balanced to prevent detrimental crystal network rearrangements, leading to textural modifications (hardness increase) and significant reduction in baking performance. Practical Applications : The results presented in this work could be helpful for edible fat products developers, especially for roll-in fat applications. This research provides an overview of the relevant properties to study for the assessment of puff pastry margarine functionality. It also highlights the importance of ensuring long-term stability of palm oil-based fat products. Finally, it emphasizes that certain combinations of fat materials should be avoided to maintain the quality of palm oil-based puff pastry margarines.     

Effect of the exposure angle in the corrosion rate of plain carbon steel in a marine atmosphere

This investigation aims to analyse the effect of the exposure angle on the corrosion rate of mild steel. Test samples were exposed to a marine environment at 0°, 30°, 45° and 90° inclination. To determine the effects of contaminants on the protective characteristics of the rusts, Cl and SO₂ contents in the atmosphere as well as SEM-EDX analyses and polarisation curves on the weathered samples were performed. Results demonstrated that the exposure angle influences the corrosion rate, as also the morphology of the rust, but with no effect on rust composition.     

Tetragonal structure, anionic vacancies and catalytic activity of SO4-ZrO2 catalysts for n-butane isomerization

An assessment of the influence of the crystal structure, surface hydroxylation state and previous oxidation/reduction pretreatments on the activity of sulfate-zirconia catalysts for isomerization of n-butane was performed using crystalline and amorphous zirconia supports. Different sulfation methods were used for the preparation of bulk and supported SO₄²⁻-ZrO₂ with monoclinic, tetragonal and tetragonal+monoclinic structures. Activity was important only for the samples that contained tetragonal crystals. The catalysts prepared from pure monoclinic zirconia showed negligible activity. SO₄²⁻-ZrO₂ catalysts prepared by sulfation of crystalline zirconia displayed sites with lower acidity and cracking activity than those sulfated in the amorphous state. Prereduction of the zirconia samples with H₂ was found to greatly increase the catalytic activity, and a maximum rate was found at a reduction temperature of 550–600 °C, coinciding with a TPR peak supposedly associated with the removal of lattice oxygen and the creation of lattice defects. A weaker dependence of catalytic activity on the density or type of surface OH groups on zirconia (before sulfation) was found in this work.

A model of active site generation was constructed in order to stress the dependence on the crystal structure and crystal defects. Current and previous results suggest that tetragonal structure in active SO₄²⁻-ZrO₂ is a consequence of the stabilization of anionic vacancies in zirconia. Anionic vacancies are in turn supposed to be related to the catalytic activity for n-butane isomerization through the stabilization of electrons from ionized intermediates.     

Regional mass flux balancing for controlling gentle soil remediation operations

Extraction of heavy metals by accumulating plants is a method which is currently in development for the "gentle" remediation of contaminated agricultural soils (phytoremediation, see [2]). Areal contaminant mass flux balances are basic criteria for the design of such remediations and their control. A framework for the integration of contaminant balances relating the field scale of remediation with the regional scale of soil monitoring networks is provided by the recently developed method PROTERRA [3]. The objective of the study presented in this paper was to test the suitability of PROTERRA for planning and monitoring gentle soil remediations. For this purpose we applied the PROTERRA method to the contaminated agricultural land in and around Dornach, Switzerland, to assess copper flux balances.The calculations showed that atmospheric deposition and the application of pesticides and manure are important pathways for the inputs of copper. The copper export with a special maize cultivar accumulating heavy metals would be about three times higher than the average metal export with crops. A moderate increase of sewage sludge application would lead to a substantial increase of the copper input. Decisions to remediate the soil should take the uncertainty of mass flux balances both on field scale as well as on regional scale into account. Therefore, an important need of further development of the PROTERRA method is the integration of uncertainty analysis on both scales.     

Predicting roadheader performance by using artificial neural network

With growing use of roadheaders in the world and its significant role in the successful accomplishment of a tunneling project, it is a necessity to accurately predict performance of this machine in different ground conditions. On the other hand, the existence of some shortcomings in the prediction models has made it necessary to perform more research on the development of the new models. This paper makes an attempt to model the rate of roadheader performance based on the geotechnical and geological site conditions. For achieving the aim, an artificial neural network (ANN), a powerful tool for modeling and recognizing the sophisticated structures involved in data, is employed to model the relationship between the roadheader performance and the parameters influencing the tunneling operations with a high correlation. The database used in modeling is compiled from laboratory studies conducted at Azad University at Science and Research Branch, Tehran, Iran. A model with architecture 4-10-1 trained by back-propagation algorithm is found to be optimum. A multiple variable regression (MVR) analysis is also applied to compare performance of the neural network. The results demonstrate that predictive capability of the ANN model is better than that of the MVR model. It is concluded that roadheader performance could be accurately predicted as a function of unconfined compressive strength, Brazilian tensile strength, rock quality designation, and alpha angle R ² = 0.987. Sensitivity analysis reveals that the most effective parameter on roadheader performance is the unconfined compressive strength.     

Characterization and tests of planar Co3O4 model catalysts prepared by chemical vapor deposition

The chemical vapor deposition method was used to deposit thin films of cobalt oxide starting with cobalt (II) acetylacetonate and oxygen. The deposition process was investigated and the obtained films were identified as a cubic spinel-type polycrystalline Co₃O₄ with a crystallite size of 30–40 nm. The coating was carbon-free and the surface oxygen concentration was measured to be 66 at.% with AES analysis. Smooth and highly uniform thin films were deposited on planar stainless steel substrates and subjected to TPR and catalysis tests that show positive correlation. The apparent activation energy of Co₃O₄ reduction to CoO was measured to be (33±5) kJ/mol. The catalytic activity of Co₃O₄ was investigated toward the conversion of both propane and ethanol to carbon dioxide. Though the catalytic action was registered at the same temperature, the deactivation process was seen to be different. The catalytic conversion of ethanol induces a fast deactivation process, which was linked to its high ability to reduce Co₃O₄.     

Possible effects of site isolation in antimony oxide-modified vanadia/titania catalysts for selective oxidation of o-xylene

Titania-supported vanadia catalysts were modified by addition of antimony oxide for application in o-xylene selective oxidation to phthalic anhydride. It was shown that active and selective catalysts can be prepared by ball-milling mixtures of powders of TiO₂, V₂O₅and Sb₂O₃followed by calcination. X-ray photoelectron spectroscopy proves the formation of highly dispersed overlayers of vanadium oxide and antimony oxide, in which V⁵⁺is partially reduced to lower oxidation states and Sb³⁺is partially oxidized to Sb⁵⁺. Antimony oxide segregated into the outermost surface layers. It is therefore inferred that the presence of the antimony oxide modifier spatially separates V–O species and leads to site isolation which may be responsible for the positive effect of the modifier for the catalyst's selectivity.     

A smartphone-based virtual white cane

The objective of our research was to develop assistive technology for visually impaired people, with a high appreciation for the human potential to achieve, to learn, and to achieve goals. In this document, we describe a virtual white cane made of a combination of a Smartphone and a laser pointer. In our device, the laser pointer beam reflection is captured by the Smartphone camera. The distance from the virtual white cane to the reflection is computed through active triangulation. Then, a personalized vibration, the magnitude of which corresponds to distance, is generated in the Smartphone. In this way, the users receive information that could prevent collisions with obstacles in the environment. Our contributions include the development of a virtual white cane around a Smartphone and other off-the-shelf accessories and a methodology to provide personalized vibratory feedback to the user. Our experiments show that to navigate, our instrument is better option, in terms of travel time, that the use of the hands. However, the travel time is still better using a traditional white cane than our instrument.