Cardiovascular magnetic resonance findings in a case of Danon disease

Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies

Cone-rod dystrophy can be a manifestation of Danon disease

Background Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD). Methods Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing, fundus photography, Goldmann perimetry, full-field electroretinogram (ERG), and SD-OCT. Previous ophthalmologic data were retrieved from medical charts. The LAMP2 and RPGR gene were analyzed by direct sequencing. Results Two siblings had no ocular phenotype. The third sibling and a cousin developed CRD leading to legal blindness. Visual acuity deteriorated progressively over time, color vision was severely disturbed, and ERG showed reduced photopic and scotopic responses. SD-OCT revealed thinning of the photoreceptor and RPE layer. Visual fieldsdemonstrated central scotoma. The causal mutation was p. Gly384Arg in LAMP2; no mutations were found in RPGR. Conclusions This is the first description of CRD in Danon disease. The retinal phenotype was a late onset but severe dystrophy characterized by loss of photoreceptors and RPE cells. With this report, we highlight the importance of a comprehensive ophthalmologic examination in the clinical work-up of Danon disease

Étude pronostique des nodules thyroïdiens de cytologie indéterminée à suspecte

TOULOUSE3-BU Santé-Centrale (315552105) / SudocSudocFranceF

Etude des effets d'une irradiation continue à très faible dose de rayonnements gamma sur la longévité et le système immunitaire de la souris SJL/J

TOULOUSE3-BU Sciences (315552104) / SudocSudocFranceF

The role of hydroperoxides in the chemiluminescence of oxidized polymers reconsidered

International audienceChemiluminescence phenomena often occur on heating oxidized polymers in an inert atmosphere. This light emission is frequently attributed to reactions involving hydroperoxides produced during the oxidation process. The main objective of this study was to check the role played by hydroperoxides in the luminescence of three oxidized polymers: polyoctenamer, an ethylene propylene diene monomer (EPDM), and polypropylene. The hydroperoxides of pre-oxidized polymers (photo-oxidized or hydroperoxidized) were transformed using photolysis or dimethyl sulfide (DMS) treatment. The chemiluminescence of the polymer samples was measured before and after treatment and decomposition of hydroperoxides monitored with IR spectroscopy and thermal analyses. Surprisingly, all the photolysed polymers retained strong luminescence that is not entirely explained by the presence of hydroperoxides. On the contrary, two of the three polymers showed a quenching of luminescence after DMS treatment. Two conclusions can be drawn. First, the results clearly indicate that the luminescence of oxidized polymers does not only depend on the presence of hydroperoxides. The second conclusion concerns the origin of the remaining chemiluminescence after photolysis and the quenching observed after DMS treatment. As photolysis mainly leads to the formation of carbonyl compounds and DMS treatment to the production of alcohols, it is proposed that carbonyl compounds are probably involved in the chemiluminescence of oxidized polymers, especially through associations with remaining hydroperoxides

Nonlinearity in MCF7 Cell Survival Following Exposure to Modulated 6 MV Radiation Fields: Focus on the Dose Gradient Zone

International audienceThe study of cell survival following exposure to nonuniform radiation fields is taking on particular interest because of the increasing evidence of a nonlinear relationship at low doses. We conducted in vitro experiments using the MCF7 breast cancer cell line. A 2.4 × 2.4 cm(2) square area of a T25 flask was irradiated by a Varian Novalis accelerator delivering 6 MV photons. Cell survival inside the irradiation field, in the dose gradient zone and in the peripheral zone, was determined using a clonogenic assay for different radiation doses at the isocenter. Increased cell survival was observed inside the irradiation area for doses of 2, 10, and 20 Gy when nonirradiated cells were present at the periphery, while the cells at the periphery showed decreased survival compared to controls. Increased survival was also observed at the edge of the dose gradient zone for cells receiving 0.02 to 0.01 Gy when compared with cells at the periphery of the same flask, whatever the isocenter dose. These data are the first to report cell survival in the dose gradient zone. Radiotherapists must be aware of this nonlinearity in dose response