Para-arterial sparing phenotype in Leber congenital amaurosis associated with homozygous p.R108X SPATA-7 mutation

Purpose: To describe the genotype/phenotype correlation associated with homozygous p.R108X mutation in the SPATA7 gene. Methods: A consanguineous nuclear family of Ethiopian origin was ascertained for genotypic and phenotypic characterization, including fundus photography, fundus autofluorescence (FAF), and full-field ERG. Molecular diagnosis was performed using a microarray. Results: Two of the 5 family members were affected with LCA. A homozygous c.322C>T (p.R108X) mutation in exon 5 of SPATA-7 was identified in both of them. The patients were 4 and 11 years old, respectively. Fundus examination revealed an unremarkable macular area, but optic nerve pallor, attenuated vascular calibre and deep retinal nummular deposits with para-arterial sparing predominant in the midperiphery. FAF showed multiples areas of hyperautofluorescence, corresponding to the deep retinal deposits. ERG was not recordable in the young patient, and showed severe rods/cones dysfunction in the older one. Conclusions: The literature describing genotype/phenotype correlation of SPATA-7 mutations in Leber congenital amaurosis (LCA) is still limited. We report the occurrence of para-arterial sparing in two sibs with SPATA7-linked LCA which may represent a clinical marker of this condition.

Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

OBJECTIVE: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient. METHODS: Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography. RESULTS: Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family. CONCLUSION: This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization.

Courtyard Houses and Other Complex Buildings in the Protohistory of Southern Gaul: From Architectural to Social Changes

Courtyard houses are attested at several sites in southern Gaul between the 5th and the 1st centuries BC. They represent a new concept when compared to the traditional protohistoric houses of the region and have often been interpreted in terms of Mediterranean, Greek or Italic influences. Regardless of their origin, exogenous influences or evolution, these houses suggest the emergence of social differentiation and elites in several of the main settlements. This article analyses the significance of the various courtyard house categories in the context of local, indigenous societies, while trying to understand the social implications of this new type of residence. In a wider context, the development of domestic architecture during the Iron Age is analysed alongside the relationships between changing uses of space and social changes.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is clinically and genetically heterogeneous. It has been associated with mutations in different genes, including CRB1 (crumbs homolog 1). The aim of this study was to determine the causative gene in a Tunisian patient with arRP born to non-consanguineous parents. METHODS: Four accessible family members were included. They underwent full ophthalmic examination with best-corrected Snellen visual acuity, fundus photography and fluorescein angiography. Haplotype analysis was used to evaluate homozygosity in the family to 20 arRP loci. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced. RESULTS: The proband was a 43-year-old female patient. Best-corrected visual acuity was 20/63 (right eye) and 20/80 (left eye). Visual loss began during the third decade. Funduscopic examination and fluorescein angiography revealed typical advanced RP changes with bone spicule-like pigment deposits in the posterior pole and the midperiphery along with retinal atrophy, narrowing of the vessels, and waxy optic discs. Haplotype analysis revealed homozygosity with microsatellite markers D1S412 and D1S413 on chromosome 1q31.3. These markers flanked CRB1. Our results excluded linkage of all the other arRP loci/genes tested. Sequencing of the 12 coding exons and splice sites of CRB1 disclosed a homozygous missense mutation in exon 7 at nucleotide c. 2291G>A, resulting in an arginine to histidine substitution (p.R764H). CONCLUSIONS: R764H is a novel mutation associated with CRB1-related arRP. Previously, an R764C mutation was reported. Extending the mutation spectrum of CRB1 with additional families is important for genotype-phenotype correlations and characterization of the scope of mutation.

Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and replicated findings in four independent Caucasian cohorts (n  =  6,652). All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP) spread across five loci were significantly associated (p<5.0×10(-8)) with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p  =  1.61×10(-25), within the RASIP1 locus), rs225717 (6q24; p = 1.25×10(-16), adjacent to the VTA1 and NMBR loci), rs10774625 (12q24; p  =  2.15×10(-13), in the region of ATXN2,SH2B3 and PTPN11 loci), and rs17421627 (5q14; p = 7.32×10(-16), adjacent to the MEF2C locus). In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular disease.

The Classification of Vitreous Seeds in Retinoblastoma and Response to Intravitreal Melphalan.

PURPOSE: To evaluate the clinical characteristics of the 3 classifications of vitreous seeds in retinoblastoma-dust (class 1), spheres (class 2), and clouds (class 3)-and their responses to intravitreal melphalan. DESIGN: Retrospective, bi-institutional cohort study. PARTICIPANTS: A total of 87 patient eyes received 475 intravitreal injections of melphalan (median dose, 30 μg) given weekly, a median of 5 times (range, 1-12 times). METHODS: At presentation, the vitreous seeds were classified into 3 groups: dust, spheres, and clouds. Indirect ophthalmoscopy, fundus photography, ultrasonography, and ultrasonic biomicroscopy were used to evaluate clinical response to weekly intravitreal melphalan injections and time to regression of vitreous seeds. Kaplan-Meier estimates of time to regression and ocular survival, patient survival, and event-free survival (EFS) were calculated and then compared using the Mantel-Cox test of curve. MAIN OUTCOME MEASURES: Time to regression of vitreous seeds, patient survival, ocular survival, and EFS. RESULTS: The difference in time to regression was significantly different for the 3 seed classes (P < 0.0001): the median time to regression was 0.6, 1.7, and 7.7 months for dust, spheres, and clouds, respectively. Eyes with dust received significantly fewer injections and a lower median and cumulative dose of melphalan, whereas eyes with clouds received significantly more injections and a higher median and cumulative dose of melphalan. Overall, the 2-year Kaplan-Meier estimates for ocular survival, patient survival, and EFS (related to target seeds) were 90.4% (95% confidence interval [CI], 79.7-95.6), 100%, and 98.5% (95% CI, 90-99.7), respectively. CONCLUSIONS: The regression and response of vitreous seeds to intravitreal melphalan are different for each seed classification. The vitreous seed classification can be predictive of time to regression, number, median dose, and cumulative dose of intravitreal melphalan injections required.

Alterations of Na, K and Rb concentrations in Mycenaean pottery and a proposed explanation using X-ray diffraction

One of the most important reference groups for Mycenaean pottery is the Mycenae/Berbati (MB). In several studies, a second group has been identified (MBKR). The chemical compositions were similar to MB, but with important differences in the Na, K and Rb contents. The present study suggests that these differences are due to selective alteration and contamination processes that are indirectly determined by the original firing temperature. Therefore, groups MB and MBKR should be considered as a single reference group.

Technology transfer at the periphery of the Mycenaean world: the cases of Mycenaean pottery found in central Macedonia (Greece) and the Plain of Sybaris (Italy)

The study of technology transfer in pottery production to the periphery of the Mycenaean world has been addressed by considering two different areas, southern Italy and central Macedonia. Technological features such as ceramic paste, decoration and firing have been determined for different ceramic groups established according to provenance criteria. The studies of technology and provenance have been performed following an archaeometric approach, using neutron activation analysis, petrographic analysis, X-ray diffraction and scanning electron microscopy. The results have revealed the existence of two different models. On the one hand, southern Italy seems to exhibit a more organized pottery production, which follows a Mycenaean-like technology, while in central Macedonia production is probably more varied, being based in part on the technology of the local tradition.

Plant uses in different bronze and iron age settlements from the Nuoro province (Sardinia). The results of phytolith analyses from several ceramic fragments and grinding stones.

Ceramic vessels and milling stones are important components of the archaeological record in several Nuraghi from the Pranemuru Plateau (Sardinia). To obtain information on the possible uses of the milling stones and the content vessels is of great interest to understand the economical activities carried out in these sites by these populations. One of the approaches to obtain information on the plant uses was the phytolith analyses of the sediment adhered both to the surface of the milling stones and to the surface of the vessel content. In total we analyzed eleven archaeological samples and two control samples collected from five different Nuraghi in the Pranemuru Plateau (Nuoro Province, Sardinia). The Nuraghi were located in an area of 10 km radius from nuraghe Arrubiu and were chronologically ascribed to the Bronze Age and one site -Pranu Illixi- to the Iron Age.

Romanisation in Gaul: new methodological approaches for the study of Gaulish fine wares (200 B.C.-50 A.D.).

The twenty-second Theoretical Roman Archaeology Conference (TRAC) was held at the Goethe-University Frankfurt am Main in spring 2012. During the three-day conference fifty papers were delivered, discussing issues from a wide range of geographical regions of the Roman Empire, and applying various theoretical and methodological approaches. An equally wide selection of subjects was presented: sessions looked at Greek art and philhellenism in the Roman world, the validity of the concept of 'Romanisation', change and continuity in Roman religion, urban neighbourhood relations in Pompeii and Ostia, the transformation of objects in and from the Roman world, frontier markets and Roman archaeology in the Provinces. In addition, two general sessions covered single topics such as the 'transvestite of Catterick', metal recycling or Egyptian funeral practice in the Roman period. This volume contains a selection of papers from all these sessions.

Chemical characterization of tin-lead glazed pottery from the Iberian Peninsula and the Canary Islands: initial steps toward a better understanding of Spanish Colonial pottery in Americas

Majolica pottery was the most characteristic tableware produced in Europe during the Medieval and Renaissance periods. Because of the prestige and importance attributed to this ware, Spanish majolica was imported in vast quantities into the Americas during the Spanish Colonial period. A study of Spanish majolica was conducted on a set of 186 samples from the 10 primary majolica production centres on the Iberian Peninsula and 22 sherds from two early colonial archaeological sites on the Canary Islands. The samples were analysed by neutron activation analysis (NAA), and the resulting data were interpreted using an array of multivariate statistical approaches. Our results show a clear discrimination between different production centres, allowing a reliable provenance attribution of the sherds from the Canary Islands.

Power of Photos and Video in Education

Konferenssiesitelmä: PHOTOGRAPHY NEXT International Conference at Moderna museet and Nordiska Museet, Stockholm, 4-5 February, 2010

Population structure and density of Attalea phalerata Mart. ex Spreng. (Arecaceae) in a semideciduous forest

The structure of a population can be seen as the result of biotic and abiotic interacting forces. The studies of population characteristics are vital to improve the understanding of ecosystem functioning. In this study, we attempted to answer the two following questions: What are the population structure of Attalea phalerata? and Are there any influence of reproducers presence, canopy openness, declivity, basal area and soil coverage on recruitment of individuals in this population? We distinguished four ontogenetic stages in A. phalerata. Reproducers and virgins were sampled by using 25 plots (400 m²), juveniles and seedlings were sampled in sub-plots (100 m²). We found 2,328 Attalea phalerata individuals per hectare, first two ontogenetic stages accounted for 89.8% of the total, describing a relatively stable population. None of the analyzed factors were affecting the natural regeneration of Attalea phalerata in the fragment. The density and distribution pattern found for the population are probably signs of formation of oligarchic forests, moreover, the species seems to be able to colonize clearings and open areas.

Reflectance indices as a diagnostic tool for weed control performed by multipurpose equipment in precision agriculture

Several tools of precision agriculture have been developed for specific uses. However, this specificity may hinder the implementation of precision agriculture due to an increasing in costs and operational complexity. The use of vegetation index sensors which are traditionally developed for crop fertilization, for site-specific weed management can provide multiple utilizations of these sensors and result in the optimization of precision agriculture. The aim of this study was to evaluate the relationship between reflectance indices of weeds obtained by the GreenSeekerTM sensor and conventional parameters used for weed interference quantification. Two experiments were conducted with soybean and corn by establishing a gradient of weed interference through the use of pre- and post-emergence herbicides. The weed quantification was evaluated by the normalized difference vegetation index (NDVI) and the ratio of red to near infrared (Red/NIR) obtained using the GreenSeekerTM sensor, the visual weed control, the weed dry matter, and digital photographs, which supplied information about the leaf area coverage proportions of weed and straw. The weed leaf coverage obtained using digital photography was highly associated with the NDVI (r = 0.78) and the Red/NIR (r = -0.74). The weed dry matter also positively correlated with the NDVI obtained in 1 m linear (r = 0.66). The results indicated that the GreenSeekerTM sensor originally used for crop fertilization could also be used to obtain reflectance indices in the area between rows of crops to support decision-making programs for weed control.