Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.

PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. METHODS: Eleven affected patients were ascertained for phenotypic and genotypic characterization. Ophthalmologic evaluations included color vision testing, Goldmann perimetry, and digital fundus photography. Some patients had autofluorescence imaging, Optical Coherence Tomography, and ISCEV-standard full-field electroretinography. All affected patients had genetic testing. RESULTS: The age of onset of night blindness and the severity of the progression of the disease varied between members of the family. Some patients reported early onset of night blindness at age three, with subsequent severe deterioration of visual acuity, which was 0.4 in the best eye after their fifties. The second group of patients had a later onset of night blindness, in the mid-twenties, with a milder disease progression and a visual acuity of 0.8 at age 70. Fundus autofluorescence imaging and electrophysiological and visual field abnormalities also showed some degree of varying phenotypes. The autofluorescence imaging showed a large high-density ring bilaterally. Myopia (range: -0.75 to -8) was found in 10/11 affected subjects. Fundus findings showed areas of atrophy along the arcades. A T494M change was found in exon 11 of the PRPF3 gene. The change segregates with the disease in the family. CONCLUSIONS: A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa (ADRP). Although a T494M change has been reported, the family in our study is the first with variable expressivity. Mutations in the PRPF3 gene can cause a variable ADRP phenotype, unlike in the previously described Danish, English, and Japanese families. Our report, based on one of the largest affected pedigree, provides a better understanding as to the phenotype/genotype description of ADRP caused by a PRPF3 mutation.

Miten lähestyä valokuvaa? : kolme teoreettista mallia valokuvan tutkimiseksi

Summary: How to approach the photograph? : three theoretical models

Comparison of the interobserver variability of 2 different methods of dietary assessment in a geriatric ward: a pilot study.

BACKGROUND: Protein-energy malnutrition is highly prevalent in aged populations. Associated clinical, economic, and social burden is important. A valid screening method that would be robust and precise, but also easy, simple, and rapid to apply, is essential for adequate therapeutic management. OBJECTIVES: To compare the interobserver variability of 2 methods measuring food intake: semiquantitative visual estimations made by nurses versus calorie measurements performed by dieticians on the basis of standardized color digital photographs of servings before and after consumption. DESIGN: Observational monocentric pilot study. SETTING/PARTICIPANTS: A geriatric ward. The meals were randomly chosen from the meal tray. The choice was anonymous with respect to the patients who consumed them. MEASUREMENTS: The test method consisted of the estimation of calorie consumption by dieticians on the basis of standardized color digital photographs of servings before and after consumption. The reference method was based on direct visual estimations of the meals by nurses. Food intake was expressed in the form of a percentage of the serving consumed and calorie intake was then calculated by a dietician based on these percentages. The methods were applied with no previous training of the observers. Analysis of variance was performed to compare their interobserver variability. RESULTS: Of 15 meals consumed and initially examined, 6 were assessed with each method. Servings not consumed at all (0% consumption) or entirely consumed by the patient (100% consumption) were not included in the analysis so as to avoid systematic error. The digital photography method showed higher interobserver variability in calorie intake estimations. The difference between the compared methods was statistically significant (P < .03). CONCLUSIONS: Calorie intake measures for geriatric patients are more concordant when estimated in a semiquantitative way. Digital photography for food intake estimation without previous specific training of dieticians should not be considered as a reference method in geriatric settings, as it shows no advantages in terms of interobserver variability.

Occurrence of sectoral choroidal occlusive vasculopathy and retinal arteriolar embolization after superselective ophthalmic artery chemotherapy for advanced intraocular retinoblastoma.

BACKGROUND: : Superselective ophthalmic artery chemotherapy (SOAC) has recently been proposed as an alternative to intravenous chemoreduction for advanced intraocular retinoblastoma. Preliminary results appear promising in terms of tumor control and eye conservation, but little is known regarding ocular toxicity and visual prognosis. In this study, we report on the vascular adverse effects observed in our initial cohort of 13 patients. METHODS: : The charts of 13 consecutive patients with retinoblastoma who received a total of 30 injections (up to 3 injections of a single agent per patient at 3-week interval) of melphalan (0.35 mg/kg) in the ophthalmic artery between November 2008 and June 2010 were retrospectively reviewed. RetCam fundus photography and fluorescein angiography were performed at presentation and before each injection. Vision was assessed at the latest visit. RESULTS: : Enucleation and external beam radiotherapy could be avoided in all cases but one, with a mean follow-up of 7 months. Sectoral choroidal occlusive vasculopathy leading to chorioretinal atrophy was observed temporally in 2 eyes (15%) 3 weeks to 6 weeks after the beginning of SOAC and retinal arteriolar emboli in 1 eye 2 weeks after injection. There was no stroke or other clinically significant systemic side effects except a perioperative transient spasm of the internal carotid artery in one patient. Vision ranged between 20/1600 and 20/32 depending on the status of the macula. CONCLUSION: : Superselective ophthalmic artery chemotherapy was effective in all patients with no stroke or other systemic vascular complications. Unlike intravenous chemoreduction, SOAC is associated with potentially sight-threatening adverse effects, such as severe chorioretinal atrophy secondary to subacute choroidal occlusive vasculopathy or central retinal artery embolism, not to mention the risk of ophthalmic artery obstruction, which was not observed in this series. Further analysis of the risks and benefits of SOAC will define its role within the therapeutic arsenal. Meanwhile, we suggest that SOAC should be given in one eye only and restricted to advanced cases of retinoblastoma, as an alternative to enucleation and/or external beam radiotherapy.

La fotografía en la facultad de Bellas Artes de Barcelona (Universidad de Barcelona)

Presentació dels estudis de fotografia de la facultat de Belles Arts i d'una selecció de treballs de l'alumnat de Processos de la Creació Artística, en una publicació de difusió.

L'experiència pilot desenvolupada al Laboratori de Fotografia de la Facultat de Belles Arts de la Universitat de Barcelona.

Informe que resumeix i aporta dades i evidències de l'experiència pilot d'aplicació dels PNT específics elaborats, portada a terme al Laboratori de Fotografia de la Facultat de Belles Arts, UB.

Informe del desenvolupament de l'experiència pilot sobre procediments normalitzats de treball al laboratori de fotografia de la Facultat de BBAA de la UB

Informe sobre l'experiència pilot duta a terme al laboratori de Fotografia de la Facultat de Belles Arts, en el marc del projecte d'innovació docent LA GESTIÓ INTEGRADA DE LA QUALITAT, EL MEDI AMBIENT I LA SEGURETAT A LA DOCÈNCIA EXPERIMENTAL DELS ESTUDIS DE GRAU DE LES FACULTATS DE BELLES ARTS

Aprendre fotografia a la Facultat de Belles Arts per mitjà de diverses estratègies metodològiques. Realització d'una activitat de grup

En el marc del procés de desenvolupament de l'Espai Europeu d¿Educació Superior, aquest article presenta una activitat d'aprenentatge innovadora, amb la que es pretén fomentar diverses competències afins a les directrius proposades, com són l'autoaprenentatge, el treball col·laboratiu, la cerca i anàlisi de documentació, l'autoavaluació i l'avaluació entre iguals, que es duu a terme en l'assignatura teòrica i pràctica Fotografia, optativa del grau de l'ensenyament de Belles Arts....

Analysis of Roman pottery graffiti by high resolution capture and 3D laser profilometry

The graffiti on pottery discovered on the site of Aventicum (Avenches, VD/Switzerland) form the largest corpus of minor inscriptions of the Roman Empire studied until now. Indeed, a total of 1828 graffiti have been found. The reading and the recording of the inscriptions are generally dependent on the state of conservation of the graffito and its support. In numerous cases, only a pale shadow of the inscription is visible, which makes traditional observations, such as visual observations with the naked eye, unsuitable for its decipherment. Consequently, advanced techniques have been applied for enhancing the readability of such inscriptions. In our paper we show the efficiency of 3D laser profilometry as well as high resolution photography as powerful means to decipher illegible engraved inscriptions. The use of such analyses to decipher graffiti on pottery or on other materials enables a better understanding of minor inscriptions and improves the knowledge of the daily life of ancient populations substantially.

Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred

Purpose: To date, the genotype/phenotype correlation of p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP) is limited to less than 10 kindred. The purpose of this study is to report an unusual appearance of fundus autofluorescence (AF) with NR2E3 p.G56R-linked ADRP in a single kindred.Methods: Patients were enrolled among three generations in a previously unreported family. Molecular diagnosis was performed on all exons of NR2E3 and a p.G56R mutation was identified in affected family members only. Examinations included fundus photography, visual fields, optical coherence tomography, AF, near-infrared AF and ISCEV-standard electrophysiology (ERG).Results: Among 10 examined family members, 5 were affected. The youngest and oldest patients were 16 and 65 years old, respectively. Fundus examination revealed a range of retinal disorder from normal to optic nerve pallor, attenuated arterial caliber and bone spicule-like pigment deposits. In all patients, AF showed a double hyperfluorescent ring; an inner paramacular ring which extension was comparable among patients and an outer ring along the vascular arcades which extended towards periphery in older patients and became hypofluorescent. Maximal scotopic ERGs when recordable showed an increased a/b wave ratio.Conclusions: A double hyperfluorescent ring on AF is an uncommon observation and might be a specific clinical finding in NR2E3 p.G56R-linked ADRP. The consistency of that finding in all affected members of our 3-generation family confirms a previous study. Further analysis is required to determine whether AF changes are associated with particular retinal layer abnormalities.

A Novel Homozygous R764H Mutation in CRB1 Causes Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Family

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 fluoroangiography. Haplotype analyses were used to test linkage in the family to 20 arRP loci, including ABCA4, LRAT, USH2A, RP29, CERKL, CNGA1, CNGB1, CRB1, EYS, RP28, MERTK, NR2E3, PDE6A, PDE6B, RGR, RHO, RLBP1, TULP1. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced.Results: A 39 aged affected member was individualized. Best corrected visual acuity was OR: 20/63, OS: 20/80. Visual loss began at the third decade. Funduscopic examination and FA revealed typical advanced RP changes with bone spicule-shaped pigment deposits in the posterior pole and the mild periphery along with retinal atrophy, narrowing of the vessels and waxy optic discs. Haplotypes analysis revealed homozygosity with microsatellites markers D1S412 and D1S413 on chromosome 1q31.3. These markers flanked the CRB1 gene. Our results excluded linkage of all the other arRP loci/ genes tested. Sequencing of the 12 coding exons and splice sites of CRB1 gene disclosed a homozygous missense mutation in exon 7 at nucleotide c.(2291 G>A), resulting in an Arg to Hist substitution (p.R764H).Conclusions: R764H is a novel mutation associated with CRB1-related arRP. Previously, an R764C mutation was observed. Extending the mutation spectrum of CRB1 with additional families is important for genotype-phenotype correlations.

La seguretat i la sostenibilitat al laboratori de fotografia de la Facultat de Belles Arts

Informe sobre l'evolució de les mesures de seguretat i sostenibilitat adoptades al Laboratori de fotografia de la Facultat de Belles Arts des de la seva creació i de la incidència i beneficis que el projecte d'innnovació docent ha suposat. La gestió integrada de la qualitat, el medi ambient i la seguretat en la docència experimental dels estudis de grau de les Facultats de Belles Arts A: VALLE MARTÍ, J. (coord.) et al. Els procediments normalitzats de treball en la gestió integrada de la qualitat, el medi ambient i la seguretat en la docència experimental de les facultats de belles arts. Vídeos i documents. Barcelona: Publicacions i Edicions de la UB, 2010. Format llibre i DVD. ISBN: 978-84-475-3477-7.

L'experiència pilot desenvolupada al laboratori de fotografia de la facultat de Belles Arts de la Universitat de Barcelona

Informe sobre l'evolució de la incidència i dels beneficis que ha suposat per a l'alumnat l'aprenentatge dels continguts en seguretat i sostenibilitat específics de la matèria de l'ensenyament, com a conseqüència de l'experiència pilot duta a terme dins del marc del projecte d'innnovació docent La gestió integrada de la qualitat, el medi ambient i la seguretat en la docència experimental dels estudis de grau de les Facultats de Belles Arts.