X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.

The X-linked hyper-IgM syndrome (X-HIGM1) is a rare primary immunodeficiency disorder (PID) caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG). X-HIGM1 is characterized by normal or elevated serum levels of IgM in association with decreased levels of IgG, IgA, and IgE. The CD40LG protein expressed on activated T cells interacts with its receptor protein, CD40, on B lymphocytes and dendritic cells. Mutations in the CD40LG gene lead to the production of an abnormal CD40L protein that fails to attach to its receptor, CD40 on B cells resulting in failure to produce IgG, IgA, and IgE antibodies. In the present study, we investigated the molecular defects underlying such a PID in a patient presenting with clinical history of pneumonia and acute respiratory distress syndrome (ARDS) at 7 months of age and diagnosed as transient hypogammaglobulinemia with decreased levels of IgG and increased levels of IgM. We have identified a novel and yet to be reported frame shift deletion of a single base pair (c.229delA) in exon 2 (p.Arg77AspfsTer6) of the CD40L gene ensuing the premature truncation of the protein by 6 amino acids by targeted gene sequencing. This frame shift mutation identified as a CD40L variant was found to be pathogenic which was also validated by Sanger sequencing. The in-silico analysis of c.229 del A mutation also predicted the change to be pathological affecting the structure and function of the CD40L (CD40L, CD154) protein and its protein-protein interaction properties.

Mathematical modeling of the lower urinary tract: A review.

AIMS: Understand what progress has been made toward a functionally predictive lower urinary tract (LUT) model, identify knowledge gaps, and develop from them a path forward. METHODS: We surveyed prominent mathematical models of the basic LUT components (bladder, urethra, and their neural control) and categorized the common modeling strategies and theoretical assumptions associated with each component. Given that LUT function emerges from the interaction of these components, we emphasized attempts to model their connections, and highlighted unmodeled aspects of LUT function. RESULTS: There is currently no satisfactory model of the LUT in its entirety that can predict its function in response to disease, treatment, or other perturbations. In particular, there is a lack of physiologically based mathematical descriptions of the neural control of the LUT. CONCLUSIONS: Based on our survey of the work to date, a potential path to a predictive LUT model is a modular effort in which models are initially built of individual tissue-level components using methods that are extensible and interoperable, allowing them to be connected and tested in a common framework. A modular approach will allow the larger goal of a comprehensive LUT model to be in sight while keeping individual efforts manageable, ensure new models can straightforwardly build on prior research, respect potential interactions between components, and incentivize efforts to model absent components. Using a modular framework and developing models based on physiological principles, to create a functionally predictive model is a challenge that the field is ready to undertake.

An Unusual Posterior Mediastinal Mass - Ectopic Thyroid within the Oesophagus.

Presence of ectopic thyroid tissue in unusual locations is a rare phenomenon. Herein we present the case of a 55 year old lady, who on evaluation of dyspnoea was detected to have a mediastinal mass. Initial radiological evaluation showed the presence of a mass arising from the wall of the oesophagus which was presumed most likely to be leiomyosarcoma. She underwent surgical resection of the mass, but on histopathological examination, it turned out to be a nodular goiter which was lying within the smooth muscle layer of the oesophageal wall.

Necking and drawing of rubber-plastic bilayer laminates.

We examine the stretching behavior of rubber-plastic composites composed of a layer of styrene-ethylene/propylene-styrene (SEPS) rubber, bonded to a layer of linear low density polyethylene (LLDPE) plastic. Dog-bone shaped samples of rubber, plastic, and rubber-plastic bilayers with rubber : plastic thickness ratio in the range of 1.2-9 were subjected to uniaxial tension tests. The degree of inhomogeneity of deformation was quantified by digital image correlation analysis of video recordings of these tests. In tension, the SEPS layer showed homogeneous deformation, whereas the LLDPE layer showed necking followed by stable drawing owing to its elastoplastic deformation behavior and post-yield strain hardening. Bilayer laminates showed behavior intermediate between the plastic and the rubber, with the degree of necking and drawing reducing as the rubber : plastic ratio increased. A simple model was developed in which the force in the bilayer was taken as the sum of forces in the plastic and the rubber layers measured independently. By applying a mechanical energy balance to this model, the changes in bilayer necking behavior with rubber thickness could be predicted qualitatively.

A relevancy algorithm for curating earth science data around phenomenon.

Earth science data are being collected for various science needs and applications, processed using different algorithms at multiple resolutions and coverages, and then archived at different archiving centers for distribution and stewardship causing difficulty in data discovery. Curation, which typically occurs in museums, art galleries, and libraries, is traditionally defined as the process of collecting and organizing information around a common subject matter or a topic of interest. Curating data sets around topics or areas of interest addresses some of the data discovery needs in the field of Earth science, especially for unanticipated users of data. This paper describes a methodology to automate search and selection of data around specific phenomena. Different components of the methodology including the assumptions, the process, and the relevancy ranking algorithm are described. The paper makes two unique contributions to improving data search and discovery capabilities. First, the paper describes a novel methodology developed for automatically curating data around a topic using Earth science metadata records. Second, the methodology has been implemented as a stand-alone web service that is utilized to augment search and usability of data in a variety of tools.

Dynamics of droplet impact on hydrophobic/icephobic concrete with the potential for superhydrophobicity.

The ability of superhydrophobic surfaces to resist wetting and repel impinging water droplets is not less important for practical applications than the contact angle and contact angle hysteresis. Here we study novel hydrophobic concrete (with the potential for superhydrophobicity) and its ability to repel incoming droplets (e.g., rain). It is found that the onset of the pinning mode can be delayed by changing the surface topography. Also, the pinning or breakup of droplets of higher velocities depends on the incoming angle. Hydrophobic concrete with better pinning resistance showed less tendency for ice accretion.

Coupling of surface energy with electric potential makes superhydrophobic surfaces corrosion-resistant.

We study the correlation of wetting properties and corrosion rates on hydrophobized cast iron. Samples of different surface roughnesses (abraded by sandpaper) are studied without coating and with two types of hydrophobic coatings (stearic acid and a liquid repelling spray). The contact angles and contact angle hysteresis are measured using a goniometer while corrosion rates are measured by a potentiodynamic polarization test. The data show a decrease in corrosion current density and an increase in corrosion potential after superhydrophobization. A similar trend is also found in the recent literature data. We conclude that a decrease in the corrosion rate can be attributed to the changing open circuit potential of a coated surface and increased surface area making the non-homogeneous (Cassie-Baxter) state possible. We interpret these results in light of the idea that the inherent surface energy is coupled with the electric potential in accordance with the Lippmann law of electrowetting and Le Châtelier's principle and, therefore, hydrophobization leads to a decrease in the corrosion potential. This approach can be used for novel anti-corrosive coatings.

Surface micro/nanotopography, wetting properties and the potential for biomimetic icephobicity of skunk cabbage Symplocarpus foetidus.

Lotus (Nelumbo nucifera) is known for its two remarkable properties: superhydrophobicity and thermogenesis; however, the relationship between these two properties remains obscure. Most botanists agree that thermogenesis helps to attract pollinators, while non-wetting helps to catch pollinators and prevents contamination. Here we investigate the surface micro- and nanotopography and wetting properties of eastern skunk cabbage (Symplocarpus foetidus), another thermogenic plant, which is known for its ability to melt snow. The skunk cabbage leaves are hydrophobic but not superhydrophobic, and they have high contact angle hysteresis (similar to the rose petal effect). We develop a heat transfer model to relate icephobicity with heat transfer and discuss the biomimetic potential that both thermogenic and superhydrophobic plants may have for icephobicity in soft materials.

Vibro-levitation and inverted pendulum: parametric resonance in vibrating droplets and soft materials.

The phenomenon of liquid droplets "levitating" or bouncing off a liquid vibrating surface has attracted attention of scientists due to its possible application in microfluidics and novel nanostructured superhydrophobic materials. Several models have been suggested in the literature, and the effect is usually attributed to non-linear viscosity. Here we suggest a simple model relating the effect to the parametric resonance as described by the Mathieu equation, which explains stabilization of an inverted pendulum with vibration foundation. Small fast vibrations can be substituted by an effective "levitation" force. We present modeling and experimental results for oil droplets and discuss how the mathematical separation of the slow and fast motion provides insights on the relation of vibro-levitation of oil droplets and soft materials with the vibro-stabilization of an inverted pendulum, and the "Indian rope" and "Cornstarch monster" tricks.

Lung contusion.

Lung contusion usually follows blunt trauma to the chest. If not properly diagnosed and adequately treated, it could at times be fatal as well. This case is being presented to highlight the radiological findings of this condition.

Tropical Cyclone Intensity Estimation Using a Deep Convolutional Neural Network.

Tropical cyclone intensity estimation is a challenging task as it required domain knowledge while extracting features, significant pre-processing, various sets of parameters obtained from satellites, and human intervention for analysis. The inconsistency of results, significant pre-processing of data, complexity of the problem domain, and problems on generalizability are some of the issues related to intensity estimation. In this study, we design a deep convolutional neural network architecture for categorizing hurricanes based on intensity using graphics processing unit. Our model has achieved better accuracy and lower root-mean-square error by just using satellite images than 'state-of-the-art' techniques. Visualizations of learned features at various layers and their deconvolutions are also presented for understanding the learning process.

Intralobar sequestration.

Bronchopulmonary sequestration is a rare anomaly of the lung which is characterized by the presence of a mass of lung tissue which has no connection with the normal bronchopulmonary tree. Sequestration is of two types - intralobar and extralobar, of which intralobar is the more common one. Patients typically present with recurrent hemoptysis, which at times can be massive or with recurrent respiratory tract infections. This case is being presented to highlight the radiological as well as the intraoperative appearance of this rare anomaly.

Performance Analysis of Retrofitted Tribo-Corrosion Test Rig for Monitoring In Situ Oil Conditions.

Oils and lubricants, once extracted after use from a mechanical system, can hardly be reused, and should be refurbished or replaced in most applications. New methods of in situ oil and lubricant efficiency monitoring systems have been introduced for a wide variety of mechanical systems, such as automobiles, aerospace aircrafts, ships, offshore wind turbines, and deep sea oil drilling rigs. These methods utilize electronic sensors to monitor the "byproduct effects" in a mechanical system that are not indicative of the actual remaining lifecycle and reliability of the oils. A reliable oil monitoring system should be able to monitor the wear rate and the corrosion rate of the tribo-pairs due to the inclusion of contaminants. The current study addresses this technological gap, and presents a novel design of a tribo-corrosion test rig for oils used in a dynamic system. A pin-on-disk tribometer test rig retrofitted with a three electrode-potentiostat corrosion monitoring system was used to analyze the corrosion and wear rate of a steel tribo-pair in industrial grade transmission oil. The effectiveness of the retrofitted test rig was analyzed by introducing various concentrations of contaminants in an oil medium that usually leads to a corrosive working environment. The results indicate that the retrofitted test rig can effectively monitor the in situ tribological performance of the oil in a controlled dynamic corrosive environment. It is a useful method to understand the wear-corrosion synergies for further experimental work, and to develop accurate predictive lifecycle assessment and prognostic models. The application of this system is expected to have economic benefits and help reduce the ecological oil waste footprint.

Vibrations and spatial patterns in biomimetic surfaces: using the shark-skin effect to control blood clotting.

We study the effect of small-amplitude fast vibrations and small-amplitude spatial patterns on various systems involving wetting and liquid flow, such as superhydrophobic surfaces, membranes and flow pipes. First, we introduce a mathematical method of averaging the effect of small spatial and temporal patterns and substituting them with an effective force. Such an effective force can change the equilibrium state of a system as well as a phase state, leading to surface texture-induced and vibration-induced phase control. Vibration and patterns can effectively jam holes in vessels with liquid, separate multi-phase flow, change membrane properties, result in propulsion and locomotion and lead to many other multi-scale, nonlinear effects including the shark-skin effect. We discuss the application of such effects to blood flow for novel biomedical 'haemophobic' applications which can prevent blood clotting and thrombosis by controlling the surface pattern at a wall of a vessel (e.g. a catheter or stent).This article is part of the themed issue 'Bioinspired hierarchically structured surfaces for green science'.

Functional significance of long non-coding RNAs in breast cancer.

Most of the genome is transcribed to transcripts of no protein-coding potential. However, these transcripts do not represent transcriptional 'noise', rather they play an important role in cellular metabolism and development. Non-coding transcripts of 200 bases to 100 kb length are termed as long non-coding RNAs, majority of which are yet to be characterised thoroughly. Long non-coding RNAs (lncRNAs) play a significant role in cellular process ranging from transcriptional to post-transcriptional regulation. In this review, we highlight the recent efforts to characterise the major functions of lncRNAs in breast cancer. lncRNA expression is altered in several cancer types. Further, the aberrant regulation of lncRNAs promotes tumour development as they are involved in several cancer-associated pathways.