Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure. Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an unclassified CD of Bowman's layer. Mutations in the TGFBI gene were detected by direct sequencing, and the functional impact of each variant was predicted using in silico algorithms. Corneal phenotypes, including histological examinations, were compared with the literature data. Furthermore, molecular modeling studies of these mutations were performed. Two distinct missense mutations affecting the same residue at position 509 of keratoepithelin: p.Leu509Pro (c.1526T>C) and p.Leu509Arg (c.1526T>G) were found to be associated with a lattice-type CD. The novel p.Val613Gly (c.1828T>G) TGFBI mutation was found in a sporadic case of an Algerian individual affected by lattice CD. Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD. Structural modeling of these TGFBI mutations argues in favor of these mutations being responsible for instability and/or incorrect folding of keratoepithelin, predictions that are compatible with the clinical diagnoses. Description of a novel TGFBI mutation and a complex TGFBI allele further extends the mutational spectrum of TGFBI. Moreover, we show convincing evidence that TGFBI mutations affecting Leu509 are linked to the lattice phenotype in two unrelated French families, contrasting with findings previously reported. The p.Leu509Pro was reported to be associated with both amyloid and non-amyloid aggregates, whereas p.Leu509Arg has been described as being responsible for Epithelial Basement Membrane Dystrophy (EBMD)

Immunomarquage des collagènes I, III et IV, de la laminine et de la fibronectine dans la capsule cristallinienne humaine [Immunolabelling of collagen types I, III and IV, laminin and fibronectin in the human lens capsule].

PURPOSE: To localize collagen types I, III, and IV, laminin and fibronectin in the anterior human lens capsule. MATERIAL AND METHODS: Twenty-one anterior capsules were sampled by capsulorhexis during extracapsular cataract extraction (mean age 71.5). All capsules were labelled by an immunostaining specific for each antibodies. Immunostaining of four capsules was revealed with immunoperoxydase and seventeen using indirect immunofluorescence. RESULTS: Labelling of collagen types I and III was observed throughout the entire thickness of the capsule for each technique, the strongest labelling was found in the base of the epithelial cells with immunofluorescence. Collagen type IV was observed at the base of the epithelial cells whichever technique was used. Laminin could be detected in the inner layer of the capsule, using immunoperoxydase or immunofluorescence. No specific labelling was found for fibronectin using the two techniques. CONCLUSIONS: Different kinds of collagens have been found in capsules, more particularly the type III. The latter does not appear on other ocular basement membrane. Because of this uneven distribution in the capsule's thickness, each collagen might have a specific function

Décollement de rétine rhegmatogène et hypertonie: penser au syndrome de Schwartz-Matsuo [Rhegmatogenous retinal detachment and hypertension: Schwartz-Matsuo syndrome]

PURPOSE: To assess the usefulness of electron microscopy of the aqueous cells when confronted with the clinical association of rhegmatogenous retinal detachment after trauma, high intraocular pressure (IOP) and aqueous cells. METHOD: We report a clinical history of a 50-years-old man who had ocular trauma with perforation in 1944, intraocular lens for traumatic cataract in 1988, Yag capsulotomy in 1993 and retinal detachment with oral dialysis, high IOP and aqueous cells in anterior chamber in 1995. During the surgical therapy we performed an anterior chamber puncture to analyse the aqueous cells. An electron microscopic study was performed on 0.2 ml of aqueous humor mixed in the same volume of 2.5% glutaraldehyde and fixed with 1% osmium acid. RESULTS: Electron microscopic ultrastructural study of the aqueous cells showed numerous photoreceptor outer segments, some of them appearing degenerated. CONCLUSION: The combination of rhegmatogenous retinal detachment with tears near the ora serrata, high IOP and aqueous cells in the anterior chamber should lead the physician to do an anterior chamber puncture and analyse the aqueous cells structure. The combination of those three clinical signs associated with the photoreceptor outer segments in the anterior chamber allowed to diagnose the Schwartz-Matsuo syndrome

Spinal cord compression complicating aseptic spondylodiscitis in ankylosing spondylitis.

International audienceAseptic spondylodiscitis is a well recognized complication of ankylosing spondylitis. Neurological complications of such discovertebral lesions are uncommon. We report a new case with a diagnosis of T12-L1 spondylodiscitis which developed ten years after a spinal cord compression. Such neurological complications of aseptic spondylodiscitis may be explained by proliferative epidural tissue without predominant inflammatory infiltrates and also the development of new bone reaction, suggesting the contribution of mechanical factors

Sarcoidosis occuring during anti-TNF-alpha treatment for inflammatory rheumatic diseases: report of two cases.

International audienceAnti-TNF-alpha agents have been tried in cases of refractory sarcoidosis, giving favourable results. Thus, the occurrence of a granulomatous disease in a patient receiving such drug seems paradoxical. We describe 2 patients with inflammatory rheumatic disease, the first with ankylosing spondylitis, the second with rheumatoid arthritis, under anti-TNF-alpha treatment (infliximab and etanercept respectively) who developed non-caseating granulomas of the lungs and lymph nodes consistent with the diagnosis of sarcoidosis. Limited and various similar cases have been reported. It is generally considered that these granulomatous diseases are related to the anti-TNF-alpha agent

[Alveolar soft-part sarcoma]

International audienc

[Alveolar soft-part sarcoma]

International audienc

Intracerebral alveolar echinococcosis.

There are two species of the genus Echinococcus, Echinococcus multilocularis (also called alveolar hydatid) and Echinococcus granulosus, characterized by distinct growth features in humans. The main endemic regions for human alveolar echinococcosis (AE) caused by E. multilocularis are Central Europe, Russia, Turkey, Japan, China, eastern France and North America. Human echinococcosis is usually caused by an intrahepatic growth of parasitic larvae. Cerebral occurrence of E. multilocularis disease is rare, accounting for only 1% of cases, and is generally considered to be fatal. This report presents two cases of intracerebral E. multilocularis disease which occurred in two infected patients with AE pulmonary metastases. The anatomical and clinical features are discussed. Our retrospective survey would indicate that surgical treatment should be envisaged whenever possible