17 research outputs found
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
Effect of Continuous Irradiation with a Very Low Dose of Gamma Rays on Life Span and the Immune System in SJL Mice Prone to B-Cell Lymphoma
Renforcement du dispositif de conservation et valorisation des collections nationales ex situ forestières. Compte rendu de fin de recherche d'opération d'une recherche financée par le ministère de la jeunesse, de l'éducation et de la recherche
* INRA Documentation, Domaine St Paul, Site Agroparc, 84914 Avignon cedex 9 Diffusion du document : INRA Documentation, Domaine St Paul, Site Agroparc, 84914 Avignon cedex
Influence of a Continuous Very Low Dose of Gamma-Rays on Cell Proliferation, Apoptosis and Oxidative Stress
Clinical and cytogenetic analysis of an intracranial inflammatory myofibroblastic tumor induced by a ventriculoperitoneal shunt
Identification of CARS-ALK Fusion in Primary and Metastatic Lesions of an Inflammatory Myofibroblastic Tumor
Intradural extramedullary spinal inflammatory myofibroblastic tumor: case report and literature review
The authors present the case of an inflammatory myofibroblastic tumor that involves the cervical spinal cord meninges, presenting in a manner mimicking en plaque meningioma, which has never been previously reported. During the first surgical procedure, which did not involve exploration of the intradural space, inflammatory epidural tissue was found. We performed a second operation to remove the tumor that was finally intradural, dural-based and very tough. Imaging studies, surgical findings, and histopathological examinations were used to support the diagnosis. Intradural extramedullary inflammatory myofibroblastic tumor is a rare entity that has only been described nine times in the literature. Surgery remains the treatment of choice. Although histologically benign, spinal inflammatory myofibroblastic tumor can be aggressive and requires a large resection and long-term follow-up of the entire central nervous system with magnetic resonance imaging