Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G variant. Two individuals from successive generations developed episodes of transient dizziness, gait unsteadiness, a sensation of fall triggered by head movements, headache, and cheek numbness. These were suppressed by carbamazepine (CBZ) administration in the proband, although acetazolamide and topiramate worsened instability, and amitriptyline and flunarizine did not prevent headache spells. On examination, the horizontal head impulse test (HIT) yielded saccadic responses bilaterally and was accompanied by cerebellar signs. Two additional family members were asymptomatic, with normal neurological examinations. Reduced vestibulo-ocular reflex gain values, overt and covert saccades were shown by video-assisted HIT in affected subjects. Hearing acuity was normal. Whole-exome sequencing demonstrated the heterozygous CACNA1G missense variant c.6958G>T (p.Gly2320Cys) in symptomatic individuals. It was absent in 1 unaffected member (not tested in the other asymptomatic individual) and should be considered likely pathogenic. CACNA1G encodes for the pore-forming, a1G subunit of the T-type voltage-gated calcium channel (VGCC), in which currents are transient owing to fast inactivation, and tiny, due to small conductance. Mutations in CACNA1G cause generalized absence epilepsy and adult-onset, dominantly inherited, spinocerebellar ataxia type 42. In this kindred, the aforementioned CACNA1G variant segregated with disease, which was consistent with episodic vestibulocerebellar ataxia. CBZ proved successful in bout prevention and provided symptomatic benefit in the proband, probably as a result of interaction of this drug with VGCC. Further studies are needed to fully determine the vestibular and neurological manifestations of this form of episodic vestibulocerebellar ataxia. This novel disease variant could be designated episodic vestibulocerebellar ataxia type 10. © 2021 The Author(s). Published by S. Karger AG, Basel

Behaviour during Malolactic Fermentation of Three Strains of Oenococcus oeni Used as Direct Inoculation and Acclimatisation Cultures

The behaviour in malolactic fermentation (MLF) of an autochthonous strain of Oenococcus oeni, C22L9,isolated from a winery in Castilla-La Mancha (Spain), and of two other commercial strains of O. oeni, PN4and Alpha (Lallemand Inc.), inoculated by direct inoculation (MBR®) and after a short acclimatisationphase (1-STEP®), was studied. Strain C22L9 carried out MLF slightly faster than the two other commercialstrains, leading to a lower increase in volatile acidity and in 2,3-butanedione and 3-hydroxy-2-butanoneconcentrations, a higher lactic acid content, lower degradation of citric acid and increased degradation ofethanol. No great differences were observed in the duration of MLF, although the acclimatisation cultureswere slightly faster, or in the composition of the wines when using the O. oeni strains in the form of MBR®or 1-STEP® cultures. The tasters did not detect significant differences in the wines obtained from the samestrain of O. oeni in the two inoculation formats

Control of the degradation of silica sol-gel hybrid coatings for metal implants prepared by the triple combination of alkoxysilanes

Hybrid materials obtained by sol-gel process are able to degrade and release Si compounds that are useful in regenerative medicine due to their osteoinductive properties. The present work studies the behavior of new organic-inorganic sol-gel coatings based on triple mixtures of alkoxysilanes in different molar ratios. The precursors employed are methyl-trimethoxysilane (MTMOS), 3-glycidoxypropyl-trimethoxysilane (GPTMS) and tetraethyl-orthosilicate (TEOS). After optimization of the synthesis conditions, the coatings were characterized using 29Si nuclear magnetic resonance (29Si-MNR), Fourier transform infrared spectrometry (FT-IR), contact angle measurements, hydrolytic degradation assays, electrochemical impedance spectroscopy (EIS) and mechanical profilometry. The degradation and EIS results show that by controlling the amount of TEOS precursor in the coating it is possible to tune its degradation by hydrolysis, while keeping properties such as wettability at their optimum values for biomaterials application. The corrosion properties of the new coatings were also evaluated when applied to stainless steel substrate. The coatings showed an improvement of the anticorrosive properties of the steel which is important to protect the metal implants at the early stages of the regeneration process.The financial support of MAT2014-51918-C2-2-R, P11B2014-19 and Plan de Promoción de la Investigación from the Universitat Jaume I (Predoc/2014/25) is gratefully acknowledged. J. García-Cañadas acknowledge financial support from Ramón y Cajal programme (RYC-2013-13970). The experimental support of Raquel Oliver Valls and José Ortega Herreros is also acknowledged

Effect of different dietary vitamin E levels on growth, fish composition, fillet quality and liver histology of meagre (Argyrosomus regius)

Seven experimental isonitrogenous (50%) and isolipidic (16%) diets with different levels of α-tocopherol acetate (16, 100, 190, 285, 430, 880 and 1300 mg kg−1) were tested during 72 days to evaluate growth performance, tissue composition, fillet oxidation and liver histology in meagre juveniles, Argyrosomus regius. Growth performance, feed conversion ratio (FCR) and tissue composition were similar among treatments (P>0.05). In the liver, no major differences were recorded in lipid and fatty acid composition but higher lipid vacuolization were observed in diets E100, E190 and E880. Muscle fatty acid profiles showed an increment of the highly unsaturated fatty acid (HUFA) and a decrease of the saturated fatty acid with the increase of dietary vitamin E, which was accompanied with a reduction of the muscle TBARS responses.  Therefore, is suggested that diets for this species should be supplemented with 451mg kg−1of DL-α-tocopherol acetate (496 UI of vitamin E), as determine by broken-line regression analysis of muscle TBARS, to provide good overall growth performance and improved fish quality and storage stability. Moreover, results suggest that vitamin E deficiency or excess may deteriorate fish health.  Statement of relevance  The optimization of the dietary vitamin E level will contribute to formulate a suitable diet for meagre, a candidate for European aquaculture diversification, that until now is being fed with diets specific for other species. This study will narrow the knowledge gap that exists regarding meagre nutritional needs

Role of inert gas in the Cvd-graphene synthesis over polycrystalline nickel foils

The role of the inert gas during CVD-graphene growth over polycrystalline nickel foils is reported. Nitrogen, hydrogen and methane were used as inert, reduction and carbonaceous gases, respectively. Graphene samples were characterized by using Optical Microscopy, Raman Spectroscopy and SEM equipped with EDX. Four different colors were distinguished over the optical microscope images. These colors were analyzed by Raman Spectroscopy and correlated to each type of graphene deposited over the foil (monolayer, bilayer, few-layers and multilayer). An Excel-VBA application was developed, which was used for computing the percentage of each type of graphene, resulting in an estimation of the graphene quality value. It was verified that the incorporation of the inert gas in the reaction step during CVD-graphene synthesis greatly influenced the quality of the obtained graphene. Different temperatures and percentages of nitrogen were studied in order to define the optimal reaction conditions. A factorial design study was performed to find the best experimental conditions leading to the highest quality graphene value, which resulted to be the following ones: 947 °C and 13 vol % of nitrogen in the feed stream, 1 min of reaction time, a relation between CH4 and H2 of 0.07 v/v, and a total flow of gases of 80 Nml/min.Se informa sobre el papel del gas inerte durante el crecimiento de CVD-grafeno sobre láminas de níquel policristalino . Se utilizaron nitrógeno, hidrógeno y metano como gases inertes, de reducción y carbonosos, respectivamente. Las muestras de grafeno se caracterizaron utilizando Microscopía Óptica, Espectroscopía Raman y SEM equipado con EDX .. Se distinguieron cuatro colores diferentes sobre las imágenes del microscopio óptico. Estos colores se analizaron mediante espectroscopia Raman y se correlacionaron con cada tipo de grafeno depositado sobre la lámina (monocapa, bicapa, pocas capas y multicapa). Se desarrolló una aplicación Excel-VBA, la cual se utilizó para calcular el porcentaje de cada tipo de grafeno, dando como resultado una estimación del valor de la calidad del grafeno. Se comprobó que la incorporación del gas inerte en el paso de reacción durante la síntesis de CVD-grafeno influyó mucho en la calidad del grafeno obtenido. Se estudiaron diferentes temperaturas y porcentajes de nitrógeno para definir las condiciones óptimas de reacción. Se realizó un estudio de diseño factorial para encontrar las mejores condiciones experimentales que conduzcan al valor de grafeno de mayor calidad, las cuales resultaron ser las siguientes:4 y H 2 de 0,07 v/v, y un caudal total de gases de 80 Nml/min

Effect of Exercise on Inflammation in Hemodialysis Patients: A Systematic Review

Background: In recent years, physical exercise has been investigated for its potential as a therapeutic tool in patients with end-stage renal disease (ESRD) undergoing hemodialysis maintenance treatment (HD). It has been shown that regular practice of moderate-intensity exercise can improve certain aspects of immune function and exert anti-inflammatory effects, having been associated with low levels of pro-inflammatory cytokines and high levels of anti-inflammatory cytokines. Purpose: The aim of this review is to examine the studies carried out in this population that analyzed the effect of intradialytic exercise on the inflammatory state and evaluate which exercise modality is most effective. Methods: The search was carried out in the MEDLINE, CINAHL Web of Science and Cochrane Central Register of Controlled Trials databases from inception to June 2022. The PEDro scale was used to assess methodological quality, and the Cochrane Risk of Bias Tool and MINORS were used to evaluate the risk of bias. The quality of evidence was assessed with GRADE scale. The outcome measures were systemic inflammation biomarkers. Results: Mixed results were found in terms of improving inflammation biomarkers, such as CRP, IL-6 or TNFα, after exercise. Aerobic exercise seems to improve systemic inflammation when performed at medium intensity while resistance training produced better outcomes when performed at high intensity. However, some studies reported no differences after exercise and these results should be taken with caution. Conclusions: The low quality of the evidence suggests that aerobic and resistance exercise during HD treatment improves systemic inflammation biomarkers in patients with ESRD. In any case, interventions that increase physical activity in patients with ESRD are of vital importance as sedentary behaviors are associated with mortality. More studies are needed to affirm solid conclusions and to make intervention parameters, such as modality, dose, intensity or duration, sufficiently clear

Nanoemulsion stability: experimental evaluation of the flocculation rate from turbidity measurements

The coalescence of liquid drops induces a higher level of complexity compared to the classical studies about the aggregation of solid spheres. Yet, it is commonly believed that most findings on solid dispersions are directly applicable to liquid mixtures. Here, the state of the art in the evaluation of the flocculation rate of these two systems is reviewed. Special emphasis is made on the differences between suspensions and emulsions. In the case of suspensions, the stability ratio is commonly evaluated from the initial slope of the absorbance as a function of time under diffusive and reactive conditions. Puertas and de las Nieves (1997) developed a theoretical approach that allows the determination of the flocculation rate from the variation of the turbidity of a sample as a function of time. Here, suitable modifications of the experimental procedure and the referred theoretical approach are implemented in order to calculate the values of the stability ratio and the flocculation rate corresponding to a dodecane-in-water nanoemulsion stabilized with sodium dodecyl sulfate. Four analytical expressions of the turbidity are tested, basically differing in the optical cross section of the aggregates formed. The first two models consider the processes of: a) aggregation (as described by Smoluchowski) and b) the instantaneous coalescence upon flocculation. The other two models account for the simultaneous occurrence of flocculation and coalescence. The latter reproduce the temporal variation of the turbidity in all cases studied (380 \leq [NaCl] \leq 600 mM), providing a method of appraisal of the flocculation rate in nanoemulsions

Effect of kaolin silver complex on the control of populations of Brettanomyces and acetic acid bacteria in wine

In this work, the effects of kaolin silver complex (KAgC) have been evaluated to replace the use of SO2 for the control of spoilage microorganisms in the winemaking process. The results showed that KAgC at a dose of 1 g/L provided effective control against the development of B. bruxellensis and acetic acid bacteria. In wines artificially contaminated with an initial population of B. bruxellensis at 104 CFU/mL, a concentration proven to produce off flavors in wine, only residual populations of the contaminating yeast remained after 24 days of contact with the additive. Populations of acetic bacteria inoculated into wine at concentrations of 102 and 104 CFU/mL were reduced to negligible levels after 72 h of treatment with KAgC. The antimicrobial effect of KAgC against B. bruxellensis and acetic bacteria was also demonstrated in a wine naturally contaminated by these microorganisms, decreasing their population in a similar way to a chitosan treatment. Related to this effect, wines with KAgC showed lower concentrations of acetic acid and 4-ethyl phenol than wines without KAgC. The silver concentration from KAgC that remained in the finished wines was below the legal limits. These results demonstrated the effectiveness of KAgC to reduce spoilage microorganisms in winemaking.info:eu-repo/semantics/acceptedVersio

Different strategies to simultaneously N-doping and reduce graphene oxide for electrocatalytic applications

Two different approaches to simultaneously introduce nitrogen atoms within the graphene framework and, reduce graphene oxide nanoplatelets (GO), have been explored in order to improve the electrocatalytic activity of the resulting materials. Thus, a facile hydrothermal method using 2-chloroethylamine under conditions at 180 °C and, another one, based in the formation of polypyrrole (PPy) on graphene oxide nanoplatelets by in situ polymerization of pyrrole monomer in the presence of GO, were compared through a deep characterization of the final materials by SEM, RAMAN, FTIR, XPS, Zeta potential, XRD and TGA analysis. Physico-chemical properties of the graphene-based materials were subsequently related with their electron transfer efficiency and electrocatalytic activity. The as prepared rGO prepared by the PPy method showed an N content quite superior (~6–8%) than the rGO prepared by the hydrothermal one (~1%) being an important part of their nitrogen state pyridinic type. The electrocatalytic results showed that GO exhibited higher specific capacitance than rGO materials due to its intrinsic higher porosity. However, the presence of N species seems to have a positive effect on the ORR activity, although the N incorporation through the PPy-rGO synthesis method seems to be the preferred one according for the complete ORR pathway.Se han explorado dos enfoques diferentes para introducir simultáneamente átomos de nitrógeno dentro del marco de grafeno y reducir las nanoplaquetas de óxido de grafeno ( GO) con el fin de mejorar la actividad electrocatalítica de los materiales resultantes. Así, se comparó un método hidrotermal fácil usando 2-cloroetilamina en condiciones a 180 °C y otro, basado en la formación de polipirrol (PPy) sobre nanoplaquetas de óxido de grafeno por polimerización in situ del monómero pirrol en presencia de GO. una caracterización profunda de los materiales finales por SEM, RAMAN, FTIR, XPS , potencial Zeta , XRD yanálisis TGA . Las propiedades fisicoquímicas de los materiales a base de grafeno se relacionaron posteriormente con su eficiencia de transferencia de electrones y su actividad electrocatalítica. El rGO preparado por el método PPy mostró un contenido de N bastante superior (~6–8%) que el rGO preparado por el hidrotermal (~1%) siendo una parte importante de su estado nitrogenado de tipo piridínico. Los resultados electrocatalíticos mostraron que GO exhibió una capacitancia específica más alta que los materiales rGO debido a su mayor porosidad intrínseca. Sin embargo, la presencia de especies de N parece tener un efecto positivo sobre la actividad de ORR, aunque la incorporación de N a través del método de síntesis de PPy-rGO parece ser el preferido según la vía completa de ORR