Informing a national rare disease registry strategy in Australia: a mixed methods study.

Background: Rare disease registries (RDRs) facilitate monitoring of rare diseases by pooling small datasets to increase clinical and epidemiological knowledge of rare diseases and promote patient centred best practice. The aim of this study was to understand the current state of RDRs in Australia, data captured, impact on patient outcomes, funding models, and barriers and enablers regarding their establishment and maintenance.

Methods: An exploratory sequential mixed methods study design was adopted.

Current state of rare disease registries and databases in Australia: a scoping review.

Background: Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government's National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, including registries. Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials.

Response rates in clinical quality registries and databases that collect patient reported outcome measures: a scoping review.

Background: Patient Reported Outcome Measures (PROMs) are being increasingly introduced in clinical registries, providing a personal perspective on the expectations and impact of treatment. The aim of this study was to describe response rates (RR) to PROMs in clinical registries and databases and to examine the trends over time, and how they change with the registry type, region and disease or condition captured.

Methods: We conducted a scoping literature review of MEDLINE and EMBASE databases, in addition to Google Scholar and grey literature.

Hydrophobic deep eutectic solvents in the food sector: Focus on their use for the extraction of bioactive compounds.

Hydrophobic Deep Eutectic Solvents (HDESs) represent a novel kind of solvent. While several studies investigated their properties, just a few dealt with their use for extracting and recovering bioactive compounds from raw materials, wastes and by-products, even if HDESs might represent an interesting alternative when producing pharmaceuticals, foodstuffs and cosmetics. Furthermore, their use may contribute to realizing more sustainable green processes.

Extraction Kinetics of Total Polyphenols, Flavonoids, and Condensed Tannins of Lentil Seed Coat: Comparison of Solvent and Extraction Methods.

The lentil seed coat is a waste by-product still rich in phenolic compounds, specifically condensed tannins. The effect of different solvents, as well as different processes, namely conventional solid-liquid extraction (CSLE) and ultrasound-assisted extraction (UAE), on the extraction yield of specific phenolic compound classes was studied. Four empirical two-parameter models were examined to select the one that better fit the experimental data obtained under different operating conditions.

Optimization Model of Phenolics Encapsulation Conditions for Biofortification in Fatty Acids of Animal Food Products.

The nutritional quality of animal products is strongly related to their fatty acid content and composition. Nowadays, attention is paid to the possibility of producing healthier foods of animal origin by intervening in animal feed. In this field, the use of condensed tannins as dietary supplements in animal nutrition is becoming popular due to their wide range of biological effects related, among others, to their ability to modulate the rumen biohydrogenation and biofortify, through the improvement of the fatty acids profile, the derivate food products.

Microencapsulation as a Tool for the Formulation of Functional Foods: The Phytosterols' Case Study.

Hypercholesterolemia, which is an increase in total and low-density lipoprotein (LDL) serum cholesterol, is an important risk factor for the development of cardiovascular diseases. Lifestyle modifications underpin any action plan for reducing serum cholesterol. Phytosterols are natural compounds belonging to the triterpenes family.

Preparation and characterization of microencapsulated phytosterols for the formulation of functional foods: Scale up from laboratory to semi-technical production.

Phytosterols were microencapsulated by spray drying in a shell represented by WPI, inulin and chitosan at four different combinations through the formulation of aqueous suspensions. Moreover, two concentrations of Tween 80 (1.25% and 2.

Novel genomic findings in multiple myeloma identified through routine diagnostic sequencing.

Aims: Multiple myeloma is a genomically complex haematological malignancy with many genomic alterations recognised as important in diagnosis, prognosis and therapeutic decision making. Here, we provide a summary of genomic findings identified through routine diagnostic next-generation sequencing at our centre.

Methods: A cohort of 86 patients with multiple myeloma underwent diagnostic sequencing using a custom hybridisation-based panel targeting 104 genes.

Fortification of dark chocolate with microencapsulated phytosterols: chemical and sensory evaluation.

Chocolate is one of the most consumed delicacies in the world. Nowadays high-cocoa polyphenol-rich chocolates, probiotic chocolates, and prebiotic chocolates are getting more attention. In light of this, dark chocolate containing microencapsulated phytosterols (MPs) has been developed to reduce cholesterol in individuals.

Leaf biochemical responses and fruit oil quality parameters in olive plants subjected to airborne metal pollution.

This study was carried out in two olive orchards (Olea europaea L., cv. Chemlali) located in a polluted area near a fertilizers factory and in a control unpolluted site, managed with similar cultivation techniques.

Encapsulation of health-promoting ingredients: applications in foodstuffs.

Many nutritional experts and food scientists are interested in developing functional foods containing bioactive agents and many of these health-promoting ingredients may benefit from nano/micro-encapsulation technology. Encapsulation has been proven useful to improve the physical and the chemical stability of bioactive agents, as well as their bioavailability and efficacy, enabling their incorporation into a wide range of formulations aimed to functional food production. There are several reviews concerning nano/micro-encapsulation techniques, but none are focused on the incorporation of the bioactive agents into food matrices.

Prediction of the antioxidant activity of extra virgin olive oils produced in the Mediterranean area.

A chemical characterisation was conducted on 75 commercial extra virgin olive oils (EVOO) produced in the years 2011-2012 in Southern Italy from five different olive monovarieties (Coratina, Leccino, Maiatica, Ogliarola del Vulture and Ogliarola del Bradano). The possibility of estimating the antioxidant activity of EVOO by using a chemical index as predictor of this property was considered. In order to build up and validate an antioxidant activity predictive model, the relationship between the antioxidant activity and the chosen chemical parameters was systematically investigated.

Extra virgin olive oil bitterness evaluation by sensory and chemical analyses.

An experimental investigation was performed on blend extra virgin olive oils (EVOOs) from different cultivars and EVOO from different olive monovarieties (Coratina, Leccino, Maiatica, Ogliarola) with the aim to evaluate the possibility of estimating the perceived bitterness intensity by using chemical indices, such as the total phenol content and the compounds responsible for oil bitterness measured spectrophotometrically at 225 nm (K225 value), as bitterness predictors in different EVOO. Therefore, a bitterness predictive model, based on the relationship between the perceived bitterness intensity of the selected stimuli and the chosen chemicals parameters has been built and validated. The results indicated that the oil bitterness intensity could be satisfactorily predicted by using the K225 values of oil samples.

Focused review: agmatine in fermented foods.

Polyamines (PAs) are ubiquitous substances considered to be bioregulators of numerous cell functions; they take part in cell growth, division, and differentiation. These biogenic amines are also involved in tissue repair and in intracellular signaling; in fact, because of their polycationic character, they interact to a large extent with membrane phospholipids and may play an important role in the regulation of membrane-linked enzymes. The intracellular polyamine content derives from the simultaneous regulation of the synthesis, catabolism, uptake, and elimination of the polyamines; furthermore, PAs are present in all cell types at different concentrations, but the highest levels are found in rapid-turnover tissues.

Chemical profile of white wines produced from 'Greco bianco' grape variety in different Italian areas by nuclear magnetic resonance (NMR) and conventional physicochemical analyses.

In this study the characterization of white wines produced from the monovarietal 'Greco bianco' grape variety is presented for the first time. A total of 40 commercial wines, from two different southern Italian regions, Calabria and Campania, from the same grape variety and two different vintages, were investigated. The analyses were performed by means of chromatographic methods, conventional analyses, and nuclear magnetic resonance (NMR) spectroscopy.

Role of the cultivar in choosing Clementine fruits with a high level of health-promoting compounds.

Thirteen cultivars and two hybrids of Clementine fruits (Citrus clementina Hort. Ex. Tan) cultivated in Italy were characterized according to pH, titratable acidity, total soluble solids, total polyphenols, carotenoids, vitamin C, hesperidin, rutin, narirutin and naringin and radical scavenging activity.

The species-specific ratios of 2,3-butanediol and acetoin isomers as a tool to evaluate wine yeast performance.

The isomers of 2,3-butanediol [R,R; S,S; R,S (meso-form)] and of acetoin (R,S) were determined in laboratory wine fermentations carried out by 50 yeast strains, 10 for each of the following species, Saccharomyces cerevisiae, Kloeckera apiculata, Candida stellata, Metschnikowia pulcherrima and Brettanomyces bruxellensis, in order to evaluate if such parameters might be used to differentiate wines obtained with different yeast species. According to analysis of variance (ANOVA), the strains of the same species behaved similarly, whereas the five yeast species behaved differently so that species-specific profiles were recognized. Moreover, the discriminant analysis grouped the wines into five groups, each including the 10 wines obtained by the 10 yeast strains of the same species.