A Rare Case of Deep Vein Thrombosis Secondary to Protein S Deficiency and Antithrombin III Deficiency with MTHFR (C677T) Heterozygous Mutation, and Crohn’s Disease

Deep vein thrombosis is a condition wherein a thrombus develops in the deep veins of the body, most commonly in the legs, due to increasing tendency of the blood to coagulate. One such reason is the MTHFR gene mutation, wherein an increase in homocysteine levels causes irritation of the blood vessel endothelium, causing a disturbance in Virchow’s triad, hence triggering clot formation. [1] The MTHFR gene is responsible for instructing the body to produce an enzyme called methylene tetrahydrofolate reductase(MTHFR) [2]. MTHFR gene mutations can lead to a wide range of disorders, either as a result of the elevated levels of homocysteine in the blood, or due to folate deficiency. In about 25% of individuals globally, there is a mutation of MTHFR. The MTHFR 677C\u3eT mutation is predominantly seen in the Hispanic ethnicity, whereas the MTHFR 128A\u3eC is predominantly seen in the ethnicity groups belonging to south east Asia. In the Indian population, the MTHFR mutation prevails a low frequency of 2.9%. Diagnosis and treatment are required only in cases where secondary diseases occur as a result of MTHFR polymorphism, or if there is significant family history [4]. The treatment is along the same lines as that of another diagnosed individual without the mutation. In this case, the correlation between a genetic mutation of the MTHFR gene and Protein S and Antithrombin III deficiency, along with Crohn\u27s disease, which resulted in the development of DVT in a middle aged, male individual and its management is discussed

Application of the codon-shuffling method : Synthesis and selection of de novo proteins as antibacterials

Library-based methods of non-rational and part-rational designed de novo peptides are worthy beacons in the search for bioactive peptides and proteins of medicinal importance. In this report, we have used a recently developed directed evolution method called "codon shuffling" for the synthesis and selection of bioactive proteins. The selection of such proteins was based on the creation of an inducible library of "codon-shuffled" genes that are constructed from the ligation-based assembly of judiciously designed hexamer DNA duplexes called dicodons. Upon induction with isopropyl 1-thio-beta-D-galactopyranoside, some library members were found to express dicodon-incorporated proteins. Because of this, the host cells, in our case Escherichia coli, were unable to grow any further. The bactereostatic/lytic nature of the dicodon proteins was monitored by growth curves as well as by zone clearance studies. Transmission electron microscopy of the affected cells illustrated the extent of cell damage. The proteins themselves were overexpressed as fusion partners and subsequently purified to homogeneity. One such purified protein was found to strongly bind heparin, an indication that the interaction of the de novo proteins may be with the nucleic acids of the host cell, much like many of the naturally occurring antibacterial peptides, e.g. Buforin. Therefore, our approach may help in generating a multitude of finely tuned antibacterial proteins that can potentially be regarded as lead compounds once the method is extended to pathogenic hosts, such as Mycobacteria, for example

Asymptotic Preserving scheme for a kinetic model describing incompressible fluids

International audienceThe kinetic theory of fluid turbulence modeling developed by Degond and Lemou in [6] is considered for further study, analysis and simulation. Starting with the Boltzmann like equation representation for turbulence modeling, a relaxation type collision term is introduced for isotropic turbulence. In order to describe some important turbulence phe-nomenology, the relaxation time incorporates a dependency on the turbulent microscopic energy and this makes difficult the construction of efficient numerical methods. To investi-gate this problem, we focus here on a multi-dimensional prototype model and first propose an appropriate change of frame that makes the numerical study simpler. Then, a numerical strategy to tackle the stiff relaxation source term is introduced in the spirit of Asymptotic Preserving Schemes. Numerical tests are performed in a one-dimensional framework on the basis of the developed strategy to confirm its efficiency

MACHINE LEARNING ASSISTED QUICK EYESCAN (MLAQE) FOR SIGNAL INTEGRITY CHECK

Presented herein is a quick scan method for signal integrity checks through sampling of four points under certain thermal condition. The techniques presented herein use a machine learning trained model to ensure signal integrity check fidelity

Prediction of 1p/19q Codeletion in Diffuse Glioma Patients Using Pre-operative Multiparametric Magnetic Resonance Imaging

Kim D, Wang N, Ravikumar V, Raghuram DR, Li J, Patel A, Wendt RE III, Rao G and Rao A (2019) Prediction of 1p/19q Codeletion in Diffuse Glioma Patients Using Pre-operative Multiparametric Magnetic Resonance Imaging. Front. Comput. Neurosci. 13:52. doi: 10.3389/fncom.2019.00052https://openworks.mdanderson.org/mdacc_imgphys_pubs/1005/thumbnail.jp

Evidence of state-dependence in the effectiveness of responsive neurostimulation for seizure modulation

An implanted device for brain-responsive neurostimulation (RNS System) is approved as an effective treatment to reduce seizures in adults with medically-refractory focal epilepsy. Clinical trials of the RNS System demonstrate population-level reduction in average seizure frequency, but therapeutic response is highly variable. Recent evidence links seizures to cyclical fluctuations in underlying risk. We tested the hypothesis that effectiveness of responsive neurostimulation varies based on current state within cyclical risk fluctuations. We analyzed retrospective data from 25 adults with medically-refractory focal epilepsy implanted with the RNS System. Chronic electrocorticography was used to record electrographic seizures, and hidden Markov models decoded seizures into fluctuations in underlying risk. State-dependent associations of RNS System stimulation parameters with changes in risk were estimated. Higher charge density was associated with improved outcomes, both for remaining in a low seizure risk state and for transitioning from a high to a low seizure risk state. The effect of stimulation frequency depended on initial seizure risk state: when starting in a low risk state, higher stimulation frequencies were associated with remaining in a low risk state, but when starting in a high risk state, lower stimulation frequencies were associated with transition to a low risk state. Findings were consistent across bipolar and monopolar stimulation configurations. The impact of RNS on seizure frequency exhibits state-dependence, such that stimulation parameters which are effective in one seizure risk state may not be effective in another. These findings represent conceptual advances in understanding the therapeutic mechanism of RNS, and directly inform current practices of RNS tuning and the development of next-generation neurostimulation systems

Finite element modelling and dynamic characteristic analysis of the human CTL-Spine

Persistent exposure to whole body vibrations is the fundamental cause for lower back pain and disc degeneration. With an increasing amount of population exposed to whole body vibrations, a significant number of people experience fatal spine diseases. Substantial research is carried out to reduce the risk of spinal injuries. The dynamic characteristics of the cervical, thoracic and lumbar (CTL) region are studied extensively as individual sections of the spine. Few studies have focused on the CTL spine as an assembly of the three segments. In the present work, an authentic three dimensional geometrical model of the cervical, thoracic and lumbar spine is developed in mimics considering its natural curvature and the intervertebral discs are modeled in Design modeler. The natural frequency and mode shapes of the CTL spine are extracted using free vibration modal analysis considering 4.5 kg point mass on C1 vertebra and distributed mass of 40 kg on the CTL spine in Ansys Workbench. Six natural frequencies and their corresponding vibration modes are obtained from the finite element model. The results of this study aims to provide a reliable model for further biomechanical analysis and ergonomics

A Posteriori Multiobjective Self-Adaptive Multipopulation Jaya Algorithm for Optimization of Thermal Devices and Cycles

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