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Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP.Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-structured guide designed to elicit participant experiences with genetic testing. A thematic analysis was performed to describe patterns in participant responses.Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic testing. Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination of etiology or usal gene (50%), reproductive concerns (50%), and prognostic outlook (50%). Most participants (75%) expressed satisfaction about their decision to pursue genetic testing. Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visual decline (50%). Genetic confirmation of disease leads to initiation of safety and vision-protecting health behaviors (42%).Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to identify targets for improvement in pre- and post-test education and counselling.

A Burgundian Chardonnay wine was enriched with Gentiana lutea root powders originating from two French mountain sites (Massif Central and Jura) in order to prepare semi-dry gentian aromatized Chardonnay wine-based drinks. These novel alcoholic beverages were chemically and sensorially characterized for evaluating if the gentian geographic origin influenced bitter and elemental and volatile composition and sensory profiles in the final products. For that, the chemical fingerprint of gentian powders and wines were carried by headspace solid phase microextraction gas chromatography coupled to mass spectrometry (HS&ndash, SPME&ndash, GC), liquid chromatography coupled to diode array detector (LC&ndash, DAD) and inductive coupled plasma optical emission spectroscopy (ICP&ndash, OES). The mineral and volatile analysis show that the geographic distinction is more obvious in gentian powders compared to gentian macerated wines. Interestingly the maceration process in Chardonnay wine involves extraction processes revealing statistical distinctions in other chemical markers of gentian origin, like for amarogentin and loganic acid or some mineral elements such as barium and aluminum that affect undoubtedly bitterness perception and sensory properties in macerated wines compared to unmacerated wine. Additionally, the gentian volatile 2-methoxy-3-sec-butylpyrazine and the Chardonnay wine volatile ethyl-9-decenoate differentiated, respectively by extraction and powder adsorption mechanisms could be responsible of more subtle sensory differentiations between macerated wines from two distinct gentian origins.

Background: The core gut microbiota encodes for a metabolic capacity that often surpasses the metabolic potential of its host. Lowbush wild blueberries (LWB) are a rich source of bioactive compounds, and the gut microbiota is an important modulator of their activity. The objective of this research is to study the effect of a diet enriched with LWB on the gastrointestinal microbiota’s metabolic potential. Methods: Nine three-week-old male Sprague Dawley rats were randomly assigned to two groups. The control group (N=4) was placed on the AIN93 diet, and the treatment group (N=5) was fed the same diet with 8% (w/w) LWB powder substituting for dextrose. The animals consumed the diets for six weeks, after which they were sacrificed. Functional profiles and metabolic potential of the colon microbiota in response to diet were analyzed using deep whole genome sequencing (WGS). Results: Proteins predicted from WGS DNA sequences were assigned to 3,746 COG, 5,577 KEGG, and 4,474 Pfam families. Statistical comparisons of the protein-coding genes revealed significant changes in 25 Gene Ontology (GO), 186 KEGG, and 20 Pfam protein families representing 2.1%, 3.3%, and 0.02% of all hits identified, respectively. Overall, the combined inquires into these databases represented an emphasis on membrane trafficking, DNA regulation, modification and repair, and nutrient metabolism. Protein families that significantly increased by the enrichment of LWBs were involved with amino acid metabolism, 2,4-dienoyl-CoA reductase, metal ion binding, glutamate synthase, REDOX homeostasis, and aryl transferases. In Functional Foods in Health and Disease 2012, 2(6):228-241 contrast, protein families involved with integrase/recombinase, reverse transcriptase, and transposon/transposase were at a lower abundance. Conclusions: The results from this study reflect the potential impact that LWBs have on the functional repertoire of bacterial communities in the proximal colon. The results demonstrate a higher potential for the metabolism of amino acids and a lower potential for horizontal integration of plasmids and lower phage/transposon activity in the LWB diet, suggesting that the genome at the time of sampling was more stable. This study helps unravel diverse mechanisms of microbial adaptation to LWBs in the diet of mammals and can provide guidance in optimizing functional diets.