Lettre à Louis XIV / Fénelon, aut.. Le riche et le pauvre / La Bruyère, aut.

[Méthode de langue (français)]

Zapfen-Stäbchen-Dystrophie durch eine neue reinerbige RPE65-Mutation in Leberscher kongenitaler Amaurose Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis.

Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of RPE65. Therapy and Outcome: Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of + 3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the oldest and of 5/60 OD, 6/60 OS for the other. They showed disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. ERGs of the oldest child were completely unresponsive. Genomic sequencing identified a novel homozygous missense mutation, IVS2-3C > G, in the second RPE65 intron. Conclusions: We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing rod-cone dystrophy with residual visual function.

[Archives de la parole]. , [Fragment du Sermon sur la mort de Bossuet] / [René Delbost], voix

Enregistrement : Paris, Université de Paris, La Sorbonne, 10-01-1912

[Archives de la parole]. , [Fragment du Sermon sur la mort de Bossuet] / [Ferdinand Brunot], voix

Enregistrement : Paris, Université de Paris, La Sorbonne, 03-01-1912

Heidelberg Retina Tomograph in Glaucoma Case-finding

Purpose: To compare the disease classification using optic nerve head imaging against clinical examination combined with perimetry in the case-finding environment.Methods: During a glaucoma screening event at the University Hospital in Lausanne 148 attendees opted to undergo an extended screening exam consisting of perimetry with Octopus (Haag-Streit, Koeniz, Switzerland), tonometry, gonioscopy, slit-lamp optic nerve head examination and Heidelberg Retinal Tomorgraph (HRT, Heidelberg engineering). Classification criteria of an abnormal clinical exam consisted of a cup to disc ratio > 0.6, other disc abnormality (e.g. notching), closed angles, Van Herrick < ¼ and intraocular pressure >21mmHg. In perimetry a square root loss variance (sLV) >3.0 dB was considered abnormal. Those cases with both an abnormal clinical exam and abnormal perimetric results were considered to be glaucoma suspects. An abnormal HRT exam was a global Moorfields Regression Analysis (MRA) result of "outside normal limits". The results from the worse eye for each instrument are reported.Results: The mean age of the patients was 59.9 years (SD ±14.8years). 46 subjects failed the clinical exam. 55 subjects had sLV>3.0dB. 86 subjects failed one or more of the testing components, 21 subjects failed both the clinical exam and perimetry. Two cases of advanced glaucoma were diagnosed on the day of the event. 20 subjects were referred due to other ocular pathology (10 cataract; 2 AMD; 8 other). 16 subjects were outside normal limits with the HRT, of which 11 failed the clinical exam, 9 failed the perimetric exam and 7 failed all three. HRT had a sensitivity of 33% CI [15%,57%] with a specificity of 93% CI [87%,97%].Conclusions: HRT shows good specificity, however the low sensitivity makes it of limited use in the proposed case finding scenario.

Saeta. Núm. 1 / por La Niña de Los Peines, chant ; acomp. de cornetas, trompetas y tambores. Sevillanas. Núm. 2 / por La Niña de Los Peines, chant ; acompanamiento de guitarra por el Nino Ricardo

[Traditions. Europe. Espagne. Andalousie]

Hawaïen hula medley ; Pua carnation / Mme Louise et M. Ferera, guit. hawaïennes

[Traditions. Polynésie]

Rameau and Couperin harpsichord selections / Sylvia Marlowe, clav.

Comprend : Gavotte and variations in A minor / Rameau, comp. ; Sylvia Marlowe, clav. ; La poule / Rameau, comp. ; Sylvia Marlowe, clav. ; Les fastes de la grande et ancienne Ménestrandise / Couperin, comp. ; Sylvia Marlowe, clav. ; Le tic-toc choc / Couperin, comp. ; Sylvia Marlowe, clav.

Les clavecinistes français des XVIIe et XVIIIe siècles / d'Anglebert, d'Andrieu, J.- Ph. Rameau... [et al.], comp. ; Isabelle Nef, clav.

Comprend : Allemande, gavotte, menuet / J.- H. d'Anglebert, comp. ; Isabelle Nef, clav. ; Le ramage, Les amours, L'hymen / Jean-François Dandrieu, comp. ; Isabelle Nef, clav. ; L'entretien des muses / Jean-Philippe Rameau, comp. ; Isabelle Nef, clav. ; Chaconne / Louis Couperin, comp. ; Isabelle Nef, clav. ; Allemande, courante, sarabande / Jacques Champion de Chambonnières, comp. ; Isabelle Nef, clav. ; La rare / Jacques Champion de Chambonnières, comp. ; Isabelle Nef, clav. ; Musette / Louis Claude Daquin, comp. ; Isabelle Nef, clav. ; Tambourin / Louis Claude Daquin, comp. ; Isabelle Nef, clav. ; Les bergères / Louis Claude Daquin, comp. ; Isabelle Nef, clav. ; Chaconne / J.- H. d'Anglebert, comp. ; Isabelle Nef, clav. ; Les roseaux / François Couperin, comp. ; Isabelle Nef, clav. ; Les petits moulins à vent / François Couperin, comp. ; Isabelle Nef, clav.

Proserpine. Menuet des ombres heureuses ; Atys. Air pour la suite de Flore : gavotte ; Amadis. Menuet / Lully, comp. ; orch. ; Maurice Cauchie, dir.

Titre uniforme : [Proserpine. LWV 58]. Extrait

[Archives de la Parole]. , The [Parable of] the Prodigal son : in Khariā / [Sir George Grierson], éd. ; Linguistic survey of India ; Voix parlée

[Traditions. Asie. Inde. Chotā Nāgpur]

[Archives de la Parole]. , Parable of the prodigal son in Parjé [i.e. parji], from Bastar (C.P) [i.e. Central Provinces] : dravidien, Linguistic survey of India, [Sir George] Grierson / [Sir George Grierson], éd. ; Linguistic survey of India ; [Bhima Parjā], voix

[Traditions. Asie. Inde. Madhya Pradesh. Chhattisgarh]

[Archives de la Parole]. , Parable of the prodigal son : in Kodaku, from Surguja / [Sir George Grierson], éd. ; Linguistic survey of India ; [Jūthan Koḍākū], voix

[Traditions. Asie. Inde. Madhya Pradesh. Chhattisgarh]

[Archives de la Parole]. , Parable of the prodigal son : in Hō / [Sir George Grierson], éd. ; Linguistic survey of India ; Voix parlée

[Traditions. Asie. Inde. Chotā Nāgpur]

[Archives de la Parole]. , Parable of the prodigal son : in mixed Baghelkhandi (C.P.) [i.e. Central Provinces], from Murwara / [Sir George Grierson], éd. ; Linguistic survey of India ; [Rai Bahadur Hiralal], voix

[Traditions. Asie. Inde. Madhya Pradesh. Baghelkhand]