Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent areas of choroidal atrophy resembling gyrate atrophy, starting in the second decade of life. Progression continued centrally, reaching the fovea at about 60 years of age. Subretinal deposits, retinal pigmentation or choroidal neovascularization as seen in late-onset retinal degeneration (LORD) were not observed. Whole genome sequencing revealed a novel missense variant in the C1QTNF5 gene (p.(Q180E)) which was found in heterozygous state in all affected subjects. Haplotype analysis showed that this variant found in both families is identical by descent. Three-dimensional modeling of the possible supramolecular assemblies of C1QTNF5 revealed that the p.(Q180E) variant led to the destabilization of protein tertiary and quaternary structures, affecting both the stability of the single protomer and the entire globular head, thus exerting detrimental effects on the formation of C1QTNF5 trimeric globular domains and their interaction. In conclusion, we propose that the p.(Q180E) variant causes a specific phenotype, adGALCD, that differs in multiple clinical aspects from LORD. Disruption of optimal cell-adhesion mechanisms is expected when analyzing the effects of the point mutation at the protein level.     

Kinetic multi-layer model of film formation,growth, and chemistry (KM-FILM): Boundary layer processes,multi-layer adsorption,bulk diffusion,and heterogeneous reactions

Large surface area-to-volume ratios indoors cause heterogeneous interactions to be especially important. Semi-volatile organic compounds can deposit on impermeable indoor surfaces forming thin organic films. We developed a new model to simulate the initial film formation by treating gas-phase diffusion and turbulence through a surface boundary layer and multi-layer reversible adsorption on rough surfaces, as well as subsequent film growth by resolving bulk diffusion and chemical reactions in a film. The model was applied with consistent parameters to reproduce twenty-one sets of film formation measurements due to multi-layer adsorption of multiple phthalates onto different indoor-relevant surfaces, showing that the films should initially be patchy with the formation of pyramid-like structures on the surface. Sensitivity tests showed that highly turbulent conditions can lead to the film growing by more than a factor of two compared to low turbulence conditions. If surface films adopt an ultra-viscous state with bulk diffusion coefficients of less than 10⁻¹⁸ cm² s⁻¹, a significant decrease in film growth is expected. The presence of chemical reactions in the film has the potential to increase the rate of film growth by nearly a factor of two.     

Antimicrobial soy protein isolate‐based films: physical characterisation,active agent retention and antifungal properties against Penicillium italicum

Soy protein isolates (SPI) films were evaluated as carriers of citral and limonene, and their physical and antifungal properties were evaluated. The presence of antimicrobials in SPI films resulted in changes on colour without affecting the transparency. Films with citral added were more extensible; however, a reduction in tensile strength and elastic modulus was observed in films with limonene added. Aroma compounds addition in films induced a slight increase in water vapour properties in relation to discontinuity of network proteins evidenced by SEM. Besides, FTIR spectra evidenced a partial alteration of SPI secondary structure. Citral was less retained than limonene. The increase in limonene release with high relative humidity was explained by increase in protein chain mobility. SPI films enriched with limonene exhibited strong antifungal activity against the postharvest decay pathogen Penicillium italicum under storage conditions.     

Characterization of dissolved organic matter in a coral reef ecosystem subjected to anthropogenic pressures (La Réunion Island, Indian Ocean) using multi-dimensional fluorescence spectroscopy

La Saline fringing reef is the most important coral reef complex of La Réunion Island (southwestern Indian Ocean; 21°07′S, 55°32′E). This ecosystem is subjected to anthropogenic pressures through river inputs and submarine groundwater discharge (SGD). The goal of this study was to characterize the pool of fluorescent dissolved organic matter (FDOM) in different water bodies of La Saline fringing reef ecosystem using excitation-emission matrix (EEM) spectrofluorometry. From EEMs, we identified the different fluorophores by the peak picking technique and determined two fluorescence indices issued from the literature: the humification index (HIX) and the biological index (BIX). The main known fluorophores were present within the sample set: humic-like A, humic-like C, marine humic-like M, tryptophan-like T1 and T2, and tyrosine-like B1 and B2. In some samples, unknown fluorophores (“U”) were also detected. The surface oceanic waters located beyond the reef front displayed a typical oligotrophic marine signature, with a dominance of autochthonous/biological material (presence of peaks: T1 > B1 > A > T2 > M > C; HIX: 0.9 ± 0.4; BIX: 2.3 ± 1.1). In the reef waters, the autochthonous/biological fingerprint also dominated even though the content in humic substances was higher (same relative distribution of peaks; HIX: 1.6 ± 0.6; BIX: 1.0 ± 0.1). Sedimentary and volcanic SGD showed very different patterns with a strong terrestrial source for the former (A > T1 > C > B1 and A > C > B1; HIX: 9.8 ± 2.0; BIX: 0.8 ± 0.0) and a weak terrestrial source for the latter (A > B1 > U3 > B2 > C and A > U4 > C; HIX: 2.4 ± 0.3; BIX: 0.9 ± 0.0). In the Hermitage River, both humic substances and protein-like material were abundant (T1 > A > U5 > B1 > C > B2; HIX: 2.3; BIX: 1.4). We provide evidences for the presence of anthropogenic DOM in some of these water bodies. Some oceanic samples (presence of peaks U1 and U2) were likely contaminated by oil-derived PAHs from ships navigating around the reef front, whereas the Hermitage River was highly impacted by sewage effluents, numerous in this coastal area of La Réunion Island. We conclude that multi-dimensional fluorescence spectroscopy (EEM) coupled to the determination of HIX and BIX is a good tool for assessing the origin and distribution of DOM in the coral reef ecosystems submitted to anthropogenic impacts.     

Morphological and structural properties of neutron-irradiated B12C3 boron carbide microcrystals

Boron carbide B₁₂C₃ microcrystals were neutron irradiated at four different fluences, namely at 1.09, 2.19, 3.28 and 4.38 × 10¹⁶ n cm^?2. The structural properties were studied by means of Raman spectroscopy, revealing that the neutron induced structural defects are focused toward the interstitial chains of B₁₂C₃. The morphology of the B₁₂C₃ samples was studied by means of secondary electron imaging showing that the neutron irradiation did not modify the size distribution of the microcrystals.     

Changes in nutritional and sensory properties of orange juice packed in PET bottles: An experimental and modelling approach

Sensitivity to oxidation of an orange juice was investigated through packaging in standard PET or active PET with oxygen scavenger bottles. The evolution of dissolved oxygen was found to be similar in all bottles, whereas ascorbic acid degradation was related to the oxygen transfer with higher losses in standard PET (53%) against active PET (31%). Moreover, when juice was exposed to high intensity light, a fold faster degradation of ascorbic acid was observed compared to total darkness. Depending also on the light intensity and regardless of the package permeability, changes in the aromatic profile of the juice were observed due to the degradation of limonene and the formation of α-terpineol, an off-flavour. A mechanistic model was developed to predict the shelf life of orange juice. This model, coupling O₂ transfer and ascorbic acid oxidation reaction in the bottled juice, confirmed that oxygen permeation through packaging material could not be neglected.     

Clinical outcomes and molecular genotyping of Staphylococcus aureus isolated from milk samples of dairy primiparous Mediterranean buffaloes (Bubalus bubalis)

Staphylococcus aureus is one of the most important pathogens causing mastitis in dairy cows and in Mediterranean buffaloes. Genotype B (GTB) is contagious in dairy cows and may occur in up to 87% of cows of a dairy herd. It was the aim of this study to evaluate genotypes present, clinical outcomes, and prevalence of Staph. aureus in milk samples of primiparous Mediterranean dairy buffaloes. Two hundred composite milk samples originating from 40 primiparous buffaloes were collected from May to June 2012, at d 10, 30, 60, 90, and 150 d in milk (DIM) to perform somatic cell counts and bacteriological cultures. Daily milk yields were recorded. Before parturition until 40 to 50 DIM, all primiparous animals were housed separated from the pluriparous animals. Milking was performed in the same milking parlor, but the primiparous animals were milked first. After 50 DIM, the primiparous were mixed with the pluriparous animals, including the milking procedure. Individual quarter samples were collected from each animal, and aliquots of 1 mL were mixed and used for molecular identification and genotyping of Staph. aureus. The identification of Staph. aureus was performed verifying the presence of nuc gene by nuc gene PCR. All the nuc-positive isolates were subjected to genotype analysis by means of PCR amplification of the 16S-23S rRNA intergenic spacer region and analyzed by a miniaturized electrophoresis system. Of all 200 composite samples, 41 (20.5%) were positive for Staph. aureus, and no genotype other than GTB was identified. The prevalence of samples positive for Staph. aureus was 0% at 10 DIM and increased to a maximum of 22/40 (55%) at 90 DIM. During the period of interest, 14 buffaloes tested positive for Staph. aureus once, 6 were positive twice, and 5 were positive 3 times, whereas 15 animals were negative at every sampling. At 90 and 150 DIM, 7 (17.5%) and 3 buffaloes (7.5%), respectively, showed clinical mastitis (CM), and only 1 (2.5%) showed CM at both samplings. At 60, 90, and 150 DIM, 1 buffalo was found with subclinical mastitis at each sampling. At 30, 60, 90, and 150 DIM, 2.5 (1/40), 22.5 (9/40), 35 (14/40), and 10% (4/40) were considered affected by intramammary infection, respectively. Buffaloes with CM caused by Staph. aureus had statistically significantly higher mean somatic cell count values (6.06 ± 0.29, Log₁₀ cells/mL ± standard deviation) and statistically significantly lower mean daily milk yields (7.15 ± 1.49, liters/animal per day) than healthy animals (4.69 ± 0.23 and 13.87 ± 2.64, respectively), buffaloes with IMI (4.82 ± 0.23 and 11.16 ± 1.80, respectively), or with subclinical mastitis (5.47 ± 0.10 and 10.33 ± 0.68, respectively). Based on our knowledge, this is the first time that Staph. aureus GTB has been identified in milk samples of dairy Mediterranean buffaloes.