Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster.

PURPOSE: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series. METHODS: Patients were examined consecutively at the University Hospital of the Federal University of Goias between January 2016 and June 2018. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms. RESULTS: Twenty-one patients with genetic confirmation were evaluated. The genetic variants XPV and XPC were detected in the patients. The most prevalent findings include eyelid changes, observed in 80.9% of the patients, and ocular surface changes as punctate keratopathy, occurring in 16 patients (76.2%), corneal neovascularization, and corneal opacities. Six patients (28.5%) presented corneoconjunctival tumor. More than half of patients had previous history of treatment of ocular neoplasia. Ocular burning was the most reported symptom. CONCLUSIONS: The ocular characteristics identified in this study corroborate the existing literature, mainly related to the surface. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area.

Developmental and physiological responses of Brachypodium distachyon to fluctuating nitrogen availability.

The Nitrogen Use Efficiency (NUE) of grain cereals depends on nitrate (NO3-) uptake from the soil, translocation to the aerial parts, nitrogen (N) assimilation and remobilization to the grains. Brachypodium distachyon has been proposed as a model species to identify the molecular players and mechanisms that affects these processes, for the improvement of temperate C3 cereals. We report on the developmental, physiological and grain-characteristic responses of the Bd21-3 accession of Brachypodium to variations in NO3- availability. As previously described in wheat and barley, we show that vegetative growth, shoot/root ratio, tiller formation, spike development, tissue NO3- and N contents, grain number per plant, grain yield and grain N content are sensitive to pre- and/or post-anthesis NO3- supply. We subsequently described constitutive and NO3--inducible components of both High and Low Affinity Transport Systems (HATS and LATS) for root NO3- uptake, and BdNRT2/3 candidate genes potentially involved in the HATS. Taken together, our data validate Brachypodium Bd21-3 as a model to decipher cereal N nutrition. Apparent specificities such as high grain N content, strong post-anthesis NO3- uptake and efficient constitutive HATS, further identify Brachypodium as a direct source of knowledge for crop improvement.

Direct calculation of thermal emission for three-dimensionally periodic photonic crystal slabs.

We perform direct thermal emission calculations for three-dimensionally periodic photonic crystal slabs using stochastic electrodynamics following the Langevin approach, implemented via a finite-difference time-domain algorithm. We demonstrate that emissivity and absorptivity are equal, by showing that such photonic crystal systems emit as much radiation as they absorb, for every frequency, up to statistical fluctuations. We also study the effect of surface termination on absorption and emission spectra from these systems.

Thermal emission and design in one-dimensional periodic metallic photonic crystal slabs.

We present a useful framework within which we can understand some of the physical phenomena that drive thermal emission in one-dimensional periodic metallic photonic crystals, emphasizing phenomenology and physical intuition. We perform detailed numerical calculations for these systems and find that polarization and periodicity play key roles in determining the types of physical phenomena that can arise. Two promising structures are identified as good candidates for thermal design. We conclude with a discussion of how the emissive properties of these systems can be tailored to our needs.

Thermal emission and design in 2D-periodic metallic photonic crystal slabs.

We present a useful framework within which we can understand some of the physical phenomena that drive thermal emission in 2D-periodic metallic photonic crystal slabs, emphasizing phenomenology and physical intuition. Through detailed numerical calculations for these systems, we find that periodicity plays a key role in determining the types of physical phenomena that can be excited. We identify two structures as good candidates for thermal design, and conclude with a discussion of how the emissive properties of these systems can be tailored to our needs.

Point defect geometries in inverted opal photonic crystals.

We study point defect geometries in inverted opal photonic crystals that can be easily fabricated by means of colloidal self-assembly. Two broad classes of defects are considered: substitutional and interstitial. Substitutional point defects are found to introduce a usable defect band into the photonic band gap. This can be done by using a silica sphere of radius between 0.33a and 0.35a (where a is the lattice constant). The state is triply degenerate. Reflectance and local density of states calculations are performed to verify the existence and frequency of this defect. The point defect can be made by precoating shrunk silica spheres with a thin layer of silicon. Such a defect can be used as a microcavity for localizing light at a point, with a quality factor Q that is limited primarily by the proximity of the defect to the surface of the photonic crystal and other such defects.