Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Background: Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.

Methods: We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.

Results: A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.

Multicomponent (bio)markers for obesity risk prediction: a scoping review protocol.

Introduction: Despite international efforts, the number of individuals struggling with obesity is still increasing. An important aspect of obesity prevention relates to identifying individuals at risk at early stage, allowing for timely risk stratification and initiation of countermeasures. However, obesity is complex and multifactorial by nature, and one isolated (bio)marker is unlikely to enable an optimal risk stratification and prognosis for the individual; rather, a combined set is required.

Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).

Objectives: Although hemispheric surgeries are among the most effective procedures for drug-resistant epilepsy (DRE) in the pediatric population, there is a large variability in seizure outcomes at the group level. A recently developed HOPS score provides individualized estimation of likelihood of seizure freedom to complement clinical judgement. The objective of this study was to develop a freely accessible online calculator that accurately predicts the probability of seizure freedom for any patient at 1-, 2-, and 5-years post-hemispherectomy.

Application of untargeted volatile profiling to investigate the fate of aroma compounds during wine oral processing.

We employed an untargeted volatile profiling approach in combination with spit off-odorant measurement procedure to investigate the fate of aroma compounds in mouth by determining how oral processing and intrinsic biological variables influence the overall volatile composition. A red wine before and after oral processing (expectorated wine), and control samples (expectorated water) were analyzed using GC-TOF-MS to determine as many volatile compounds as possible. We identified compounds in expectorated wines that originated in mouth from either an endogenous or exogenous source, while confirming that compounds might have metabolized by the action of salivary enzymes.

Insights on the effect of age and gender on in-mouth volatile release during wine tasting.

This study focus for the first time, in looking for age-gender effects on in vivo volatile release during wine consumption, also considering oral physiological differences (e.g. saliva composition).

Membrane Vesicles for Nanoencapsulated Sulforaphane Increased Their Anti-Inflammatory Role on an In Vitro Human Macrophage Model.

At present, there is a growing interest in finding new non-toxic anti-inflammatory drugs to treat inflammation, which is a key pathology in the development of several diseases with considerable mortality. Sulforaphane (SFN), a bioactive compound derived from plants, was shown to be promising due to its anti-inflammatory properties and great potential, though its actual clinical use is limited due to its poor stability and bioavailability. In this sense, the use of nanocarriers could solve stability-related problems.

Specificity of Saliva Esterases by Wine Carboxylic Esters and Inhibition by Wine Phenolic Compounds Under Simulated Oral Conditions.

The specificity of human esterase activity (EA) from the stimulated (SS) and non-stimulated (NSS) saliva toward different typical wine odorant carboxylic esters and its inhibition by the wine phenolic compounds has been evaluated. For the specificity, six p-nitrophenyl linked esters with different carbon chain lengths (from 2 to 12 carbons) were employed. The five single phenolic compounds (catechin, quercetin, kaempferol, myricetin, and resveratrol) at typical wine concentrations were assayed in the salivary EA inhibition study.

Application of untargeted volatile profiling and data driven approaches in wine flavoromics research.

Traditional flavor chemistry research usually makes use of targeted approaches by focusing on the detection and quantification of key flavor active metabolites that are present in food and beverages. In the last decade, flavoromics has emerged as an alternative to targeted methods where non-targeted and data driven approaches have been used to determine as many metabolites as possible with the aim to establish relationships among the chemical composition of foods and their sensory properties. Flavoromics has been successfully applied in wine research to gain more insights into the impact of a wide range of flavor active metabolites on wine quality.

Oral Release Behavior of Wine Aroma Compounds by Using In-Mouth Headspace Sorptive Extraction (HSSE) Method.

The oral release behavior of wine aroma compounds was determined by using an in-mouth headspace sorptive extraction (HSSE) procedure. For this, 32 volunteers rinsed their mouths with a red wine. Aroma release was monitored at three time points (immediately, 60 s, and 120 s) after wine expectoration.

Cognitive and behavioral profiles of pediatric surgical candidates with frontal and temporal lobe epilepsy.

Background: We aimed to prospectively analyze memory and executive and social cognitive functioning in patients with drug-resistant frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE) with focal lesions and isolate the impact of intellectual ability on specific deficits.

Methods: A neuropsychological evaluation was performed in 23 children with FLE, 22 children with TLE, and 36 healthy pediatric controls (HCs). Patients in the epilepsy groups had a range of lesions, including low-grade epilepsy-associated tumors (LEAT), focal cortical dysplasia (FCD) type II, and mesial temporal sclerosis (MS).

Evaluation of the Effect of a Grape Seed Tannin Extract on Wine Ester Release and Perception Using In Vitro and In Vivo Instrumental and Sensory Approaches.

This study aimed to systematically evaluate the effect of a commercial grape seed tannin extract (GSE) fully characterized (53% monomers, 47% procyanidins) on wine ester release and perception using a global approach. The behavior of two esters (ethyl hexanoate, ethyl decanoate) was studied in a control wine or in the same wine supplemented with the GSE in preconsumption (in vitro headspace-stir bar sorptive extraction-gas chromatography mass spectrometry (HS-SBSE-GC/MS) and orthonasal perception) and consumption (intraoral-HS-SBSE-GC/MS and dynamic retronasal perception) conditions. For the compound ethyl hexanoate, no significant differences ( > 0.

Understanding human salivary esterase activity and its variation under wine consumption conditions.

Salivary esterase enzymes have been related to the hydrolysis of carboxylic esters associated with fruity and pleasant aroma nuances in many types of wine. However, very little is known about human total salivary esterase activity (TSEA) under physiological conditions. The purpose of this study is to gain understanding of TSEA and its relevance under wine consumption conditions.

Oral persistence of esters is affected by wine matrix composition.

The present work evaluated for the first time the influence of wine matrix composition on oral ester persistence. To do that, the in mouth behaviour (oral retention and persistence) of six esters was followed in nine individuals after they rinsed their mouths with four rosé wines presenting two levels (low and moderate) of ethanol (0.5% or 10% v/v) and polyphenols (402 ± 10 or 661 ± 33 mg gallic acid/L).

Interactions Among Odorants, Phenolic Compounds, and Oral Components and Their Effects on Wine Aroma Volatility.

To determine the impact of oral physiology on the volatility of typical wine aroma compounds, mixtures of a synthetic wine with oral components (centrifuged human saliva (HS), artificial saliva with mucin (AS), and buccal epithelial cells (BC)) were prepared. Each wine type was independently spiked with four relevant wine odorants (guaiacol, β-phenyl ethanol, ethyl hexanoate, and β-ionone). Additionally, the impact of four types of phenolic compounds (gallic acid, catechin, grape seed extract, and a red wine extract) on aroma volatility in the HS, AS, and BC wines was also assessed.

A Simple Technique for Endoscopic Hypothalamic Hamartoma Disconnection in Refractory Epilepsy: 2-Dimensional Operative Video.

Hypothalamic hamartomas often cause refractory epilepsy, best controlled with surgery. A transcallosal interforniceal approach provides good outcomes although it has resulted in some complications including fornix lesions with transitory and permanent memory losses.1-2 Endoscopic disconnection is less invasive, avoids interhemispheric approach, callosotomy and fornix as well as propagation of epileptic discharges.

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.

Objective: To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015.

Methods: We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries.

Results: We analyzed retrospective aggregate data on 1859 operations.

Effects of Ethanol Concentration on Oral Aroma Release After Wine Consumption.

This paper evaluates, for the first time, the effects of ethanol concentration on the dynamics of oral (immediate and prolonged) aroma release after wine consumption. To do this, the intraoral aroma release of 10 panelists was monitored at two sampling points (0 and 4 min) after they rinsed their mouths with three rosé wines with different ethanol content (0.5% /, 5% / and 10% /) that were aromatized with six fruity esters (ethyl butanoate, isoamyl acetate, ethyl pentanoate, ethyl hexanoate, ethyl octanoate and ethyl decanoate).

Development of an in-mouth headspace sorptive extraction method (HSSE) for oral aroma monitoring and application to wines of different chemical composition.

An in-mouth headspace sorptive extraction (HSSE) procedure for the in-mouth volatile sampling of wine aroma compounds during wine tasting has been developed. The procedure is based on the application of a PDMS (polydimethylsiloxane) twister contained inside a tailored made glass tube placed into the headspace of the mouth after rinsing and spitting-off the wine, which is then followed by gas chromatography mass spectrometry analysis (GCMS). Various parameters that might affect the performance of the method (extraction time, aroma concentration) were firstly investigated.

Individual differences and effect of phenolic compounds in the immediate and prolonged in-mouth aroma release and retronasal aroma intensity during wine tasting.

To explore the role of phenolic compounds in oral aroma release during wine tasting, four rosé wines supplemented with three types of commercial phenolic extracts and a control wine were evaluated. Wines were aromatized with a mixture of six target aroma compounds. -In vivo oral aroma release was monitored in six volunteers at two different times after wine rinsing, just after spitting of the wine (immediate release), and four minutes later (prolonged release).

Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.

Alterations of the PI3K/Akt/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are causally involved in a subset of malformations of cortical development (MCDs) ranging from focal cortical dysplasia (FCD) to hemimegalencephaly and megalencephaly. These MCDs represent a frequent cause of refractory pediatric epilepsy. The endocannabinoid system -especially cannabinoid CB receptor- exerts a neurodevelopmental regulatory role at least in part via activation of mTORC1 signaling.

Effect of saliva esterase activity on ester solutions and possible consequences for the in-mouth ester release during wine intake.

The aim of this study was to investigate the role of saliva esterase activity on carboxylic esters typically associated with pleasant and fruity aromas in wine. For this, ex vivo experiments using the same fresh and inactivated (without enzymatic activity) human saliva with a mixture of carboxylic esters with different aliphatic chain length (ethyl butanoate, ethyl pentanoate, ethyl hexanoate, ethyl octanoate, ethyl decanoate, and isoamyl acetate) were prepared. Liquid-liquid extraction with dichloromethane and GC-MS analysis were applied to the saliva systems in order to determine the reduction in ester content and the formation of their corresponding metabolic products (carboxylic acids) in the saliva systems before and after incubation at 37C.

Use of odorant series for extra virgin olive oil aroma characterisation.

Background: Extra virgin olive oil (EVOO) volatile composition is mainly used as a means of characterisation and authentication, especially for protected denomination of origin (PDO) products. This work investigated the volatile compounds from 25 EVOOs from four Spanish (Cornicabra, Manzanilla Castellana, Picual and Manzanilla Cacereña) and four Italian (Ortice, Ravece, Nocellara del Belice and Itrana) cultivars in terms of odour activity value (OAV). Forty-seven volatile compounds were analysed by solid phase microextraction gas chromatography/mass spectrometry (SPME-GC/MS).