A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the gene. Five Cypriot patients (four males and one female) were diagnosed with a CblC defect. Age at diagnosis ranged from 10 days to 9 months.

Enantiospecificity in NMR enabled by chirality-induced spin selectivity.

Spin polarization in chiral molecules is a magnetic molecular response associated with electron transport and enantioselective bond polarization that occurs even in the absence of an external magnetic field. An unexpected finding by Santos and co-workers reported enantiospecific NMR responses in solid-state cross-polarization (CP) experiments, suggesting a possible additional contribution to the indirect nuclear spin-spin coupling in chiral molecules induced by bond polarization in the presence of spin-orbit coupling. Herein we provide a theoretical treatment for this phenomenon, presenting an effective spin-Hamiltonian for helical molecules like DNA and density functional theory (DFT) results on amino acids that confirm the dependence of J-couplings on the choice of enantiomer.

Refined bounds on energy harvesting from anisotropic fluctuations.

We consider overdamped Brownian particles with two degrees of freedom (DoF) that are confined in a time-varying quadratic potential and are in simultaneous contact with heat baths of different temperatures along the respective DoF. The anisotropy in thermal fluctuations can be used to extract work by suitably manipulating the confining potential. The question of what the maximal amount of work that can be extracted is has been raised in recent work, and has been computed under the simplifying assumption that the entropy of the distribution of particles (thermodynamic states) remains constant throughout a thermodynamic cycle.

Inherited metabolic disorders in Cyprus.

Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Background: Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures.

Unveiling the Rational Development of Stimuli-Responsive Silk Fibroin-Based Ionogel Formulations.

We present an approach for the rational development of stimuli-responsive ionogels which can be formulated for precise control of multiple unique ionogel features and fill niche pharmaceutical applications. Ionogels are captivating materials, exhibiting self-healing characteristics, tunable mechanical and structural properties, high thermal stability, and electroconductivity. However, the majority of ionogels developed require complex chemistry, exhibit high viscosity, poor biocompatibility, and low biodegradability.

Omega-3 Polyunsaturated Fatty Acids and Their Anti-Oxidant, Anti-Inflammatory and Neuroprotective Effects in Diabetic Retinopathy: A Narrative Review.

Diabetic retinopathy (DR) is a common microvascular complication of type 2 Diabetes Mellitus (T2DM) that can have vision-threatening consequences, particularly if it advances to the proliferative stage and is left untreated. Owing to the central role of hyperglycemia-induced oxidative stress, multiple anti-oxidants have been investigated for their therapeutic value. However, there is a lack of substantial data to support the use of any of the compounds tested so far.

Aeolus winds impact on volcanic ash early warning systems for aviation.

Forecasting volcanic ash atmospheric pathways is of utmost importance for aviation. Volcanic ash can interfere with aircraft navigational instruments and can damage engine parts. Early warning systems, activated after volcanic eruptions can alleviate the impacts on aviation by providing forecasts of the volcanic ash plume dispersion.

How does the polymer architecture and position of cationic charges affect cell viability?

Polymer chemistry, composition and molar mass are factors that are known to affect cytotoxicity, however the influence of polymer architecture has not been investigated systematically. In this study the influence of the position of the cationic charges along the polymer chain on cytotoxicity was investigated while keeping constant the other polymer characteristics. Specifically, copolymers of various architectures, based on a cationic pH responsive monomer, 2-(dimethylamino)ethyl methacrylate (DMAEMA) and a non-ionic hydrophilic monomer, oligo(ethylene glycol)methyl ether methacrylate (OEGMA) were engineered and their toxicity towards a panel of cell lines investigated.

Deep Learning for Instance Retrieval: A Survey.

In recent years a vast amount of visual content has been generated and shared from many fields, such as social media platforms, medical imaging, and robotics. This abundance of content creation and sharing has introduced new challenges, particularly that of searching databases for similar content - Content Based Image Retrieval (CBIR) - a long-established research area in which improved efficiency and accuracy are needed for real-time retrieval. Artificial intelligence has made progress in CBIR and has significantly facilitated the process of instance search.

Polymeric Carriers for Delivery of RNA Cancer Therapeutics.

As research uncovers the underpinnings of cancer biology, new targeted therapies have been developed. Many of these therapies are small molecules, such as kinase inhibitors, that target specific proteins; however, only 1% of the genome encodes for proteins and only a subset of these proteins has 'druggable' active binding sites. In recent decades, RNA therapeutics have gained popularity due to their ability to affect targets that small molecules cannot.

A simple and fast triplex-PCR for the identification of milk's animal origin in Halloumi cheese and yoghurt.

In this research communication we describe a straightforward triplex-PCR protocol able to differentiate the origin of milk from three closely related species (goat, sheep and cow) in Halloumi, a cheese with Protected Designation of Origin (PDO), and yogurts. Halloumi must contain at least 51% sheep or goat milk, therefore, the fraudulent adulteration of this cheese with excess of cow milk must be routinely tested. The assay employs one universal forward primer and three species-specific reverse primers giving rise to 287 bp (cow), 313 bp (goat), and 336 bp (sheep) amplicons, under the same amplification conditions.

Investigation of the Thermogelation of a Promising Biocompatible ABC Triblock Terpolymer and Its Comparison with Pluronic F127.

Thermoresponsive polymers with the appropriate structure form physical networks upon changes in temperature, and they find utility in formulation science, tissue engineering, and drug delivery. Here, we report a cost-effective biocompatible alternative, namely OEGMA300--BuMA--DEGMA, which forms gels at low concentrations (as low as 2% w/w); OEGMA300, BuMA, and DEGMA stand for oligo(ethylene glycol) methyl ether methacrylate (MM = 300 g mol), -butyl methacrylate, and di(ethylene glycol) methyl ether methacrylate, respectively. This polymer is investigated in depth and is compared to its commercially available counterpart, Poloxamer P407 (Pluronic F127).

Effect of Polymer Molecular Mass and Structure on the Mechanical Properties of Polymer-Glass Hybrids.

Organic-inorganic hybrid materials are a promising class of materials for tissue engineering and other biomedical applications. In this systematic study, the effect of the polymer molecular mass (MM) with a linear architecture on hybrid mechanical properties is reported. Well-defined linear poly(methyl methacrylate--(3-(trimethoxysilyl)propyl methacrylate)) polymers with a range of MMs of 9 to 90 kDa and one 90 kDa star-shaped polymer were synthesized and then used to form glass-polymer hybrids.

Omega-3 fatty acids promote neuroprotection, decreased apoptosis and reduced glial cell activation in the retina of a mouse model of OPA1-related autosomal dominant optic atrophy.

The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation in a mouse model of OPA1-associated autosomal dominant optic atrophy (ADOA). The blood level of arachidonic acid (AA) and eicosapentaenoic acid (EPA) served to adjust the treatment dosage (AA/EPA = 1.0-1.

Energy harvesting from anisotropic fluctuations.

We consider a rudimentary model for a heat engine, known as the Brownian gyrator, that consists of an overdamped system with two degrees of freedom in an anisotropic temperature field. Whereas the hallmark of the gyrator is a nonequilibrium steady-state curl-carrying probability current that can generate torque, we explore the coupling of this natural gyrating motion with a periodic actuation potential for the purpose of extracting work. We show that path lengths traversed in the manifold of thermodynamic states, measured in a suitable Riemannian metric, represent dissipative losses, while area integrals of a work density quantify work being extracted.

Homopolymer and ABC Triblock Copolymer Mixtures for Thermoresponsive Gel Formulations.

Our group has recently invented a novel series of thermoresponsive ABC triblock terpolymers based on oligo(ethylene glycol) methyl ether methacrylate with average 300 g mol (OEGMA300, A unit), -butyl methacrylate (BuMA, B unit) and di(ethylene glycol) methyl ether methacrylate (DEGMA, C unit) with excellent thermogelling properties. In this study, we investigate how the addition of OEGMA300 homopolymers of varying molar mass (MM) affects the gelation characteristics of the best performing ABC triblock terpolymer. Interestingly, the gelation is not disrupted by the addition of the homopolymers, with the gelation temperature () remaining stable at around 30 °C, depending on the MM and content in OEGMA300 homopolymer.

Underdamped stochastic thermodynamic engines in contact with a heat bath with arbitrary temperature profile.

We study thermodynamic processes in contact with a heat bath that may have an arbitrary time-varying periodic temperature profile. Within the framework of stochastic thermodynamics, and for models of thermodynamic engines in the idealized case of underdamped particles in the low-friction regime subject to a harmonic potential, we derive explicit bounds as well as optimal control protocols that draw maximum power and achieve maximum efficiency at any specified level of power.

Rotated Spectral Principal Component Analysis (rsPCA) for Identifying Dynamical Modes of Variability in Climate Systems.

Spectral PCA (sPCA), in contrast to classical PCA, offers the advantage of identifying organized spatiotemporal patterns within specific frequency bands and extracting dynamical modes. However, the unavoidable trade-off between frequency resolution and robustness of the PCs leads to high sensitivity to noise and overfitting, which limits the interpretation of the sPCA results. We propose herein a simple nonparametric implementation of sPCA using the continuous analytic Morlet wavelet as a robust estimator of the cross-spectral matrices with good frequency resolution.

3D Printed Porous Methacrylate/Silica Hybrid Scaffold for Bone Substitution.

Inorganic-organic hybrid biomaterials made with star polymer poly(methyl methacrylate-co-3-(trimethoxysilyl)propyl methacrylate) and silica which show promising mechanical properties, are 3D printed as bone substitutes for the first time, by direct ink writing of the sol. Three different inorganic:organic ratios of poly(methyl methacrylate-co-3-(trimethoxysilyl)propyl methacrylate)-star-SiO hybrid inks are printed with pore channels in the range of 100-200 µm. Mechanical properties of the 3D printed scaffolds fall within the range of trabecular bone, and MC3T3 pre-osteoblast cells are able to adhere to the scaffolds in vitro, regardless of their compositions.

Relaxed Schrödinger bridges and robust network routing.

We seek network routing towards a desired final distribution that can mediate possible random link failures. In other words, we seek a routing plan that utilizes alternative routes so as to be relatively robust to link failures. To this end, we provide a mathematical formulation of a relaxed transport problem where the final distribution only needs to be close to the desired one.

Stochastic control and non-equilibrium thermodynamics: fundamental limits.

We consider damped stochastic systems in a controlled (time-varying) potential and study their transition between specified Gibbs-equilibria states in finite time. By the second law of thermodynamics, the minimum amount of work needed to transition from one equilibrium state to another is the difference between the Helmholtz free energy of the two states and can only be achieved by a reversible (infinitely slow) process. The minimal gap between the work needed in a finite-time transition and the work during a reversible one, turns out to equal the square of the optimal mass transport (Wasserstein-2) distance between the two end-point distributions times the inverse of the duration needed for the transition.

Approaches to treating tuberculosis by encapsulating metal ions and anti-mycobacterial drugs utilizing nano- and microparticle technologies.

Tuberculosis (TB) is caused by a bacterial infection that affects a number of human organs, primarily the lungs, but also the liver, spleen, and spine, causing key symptoms of fever, fatigue, and persistent cough, and if not treated properly, can be fatal. Every year, 10 million individuals become ill with active TB resulting with a mortality approximating 1.5 million.

Fractional SIR epidemiological models.

The purpose of this work is to make a case for epidemiological models with fractional exponent in the contribution of sub-populations to the incidence rate. More specifically, we question the standard assumption in the literature on epidemiological models, where the incidence rate dictating propagation of infections is taken to be proportional to the product between the infected and susceptible sub-populations; a model that relies on strong mixing between the two groups and widespread contact between members of the groups. We contend, that contact between infected and susceptible individuals, especially during the early phases of an epidemic, takes place over a (possibly diffused) boundary between the respective sub-populations.