- Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutationEmmanuelle Uro-Coste
Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France
Neuromuscul Disord 19:163-6. 2009..Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family...
- [2009 update in salivary gland tumoral pathology]Emmanuelle Uro-Coste
Service d anatomie pathologique et histologie cytologie, Hopital de Rangueil, CHU de Toulouse, 1, avenue Jean Poulhes, TSA50032, 31059 Toulouse Cedex 9, France
Ann Pathol 29:274-85. 2009....
- Desmoplastic infantile astrocytoma with benign histological phenotype and multiple intracranial localizations at presentationE Uro-Coste
Department of Pathology, Rangueil University Hospital, Toulouse, France
J Neurooncol 98:143-9. 2010..Previously, only five cases of DIG/DIA located in two or more separate locations have been published. We report the sixth, and first noninfantile, case of DIA/DIG with multifocal initial presentation...
- Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutationLaetitia Lacoste-Collin
Department of Pathology, CHU Rangueil, 31403 4, Toulouse, France
Neuromuscul Disord 12:882-5. 2002..Interestingly, analysis of LAMP-2 protein expression in cultured fibroblasts revealed a primary deficiency of this lysosomal membrane protein. This defect resulted from a yet undescribed deletion in exon 7 of lamp-2 gene...
- Evaluation of O-(2-[18F]-Fluoroethyl)-L-Tyrosine in the Diagnosis of GlioblastomaAlexandra Benouaich-Amiel
Pole NeuroSciences, CHU Toulouse Purpan, Place du Dr Baylac, 31059 Toulouse Cedex, France
Arch Neurol 67:370-2. 2010....
- Cerebrospinal fluid cytologic findings of a pleomorphic xanthoastrocytoma: a case reportLaetitia Lacoste-Collin
Department of Histology Cytology and Pathology, Hôpital Toulouse Rangueil, Toulouse, France
Acta Cytol 54:871-4. 2010..Cytologic features of PXA have been rarely described, only in squash specimens, but only 2 cases are reported in cerebrospinal fluid (CSF)...
- [Basaloid squamous carcinoma with a spindle cell component and osseous metaplasia presenting as a polyp of the hypopharynx]Virginie Lavialle-Guillotreau
INSERM U858, IFR 150, Equipe 15, laboratoire d anatomie pathologique et d histologie cytologie, Universite Paul Sabatier Toulouse III, CHU Rangueil, avenue Jean Poulhes, 31059 Toulouse Cedex 9, France
Ann Pathol 31:214-7. 2011..The patient has been free of disease for one year. It's the ninth case reported in the literature of a biphasic carcinoma with both a basaloid squamous and a spindle cell component and the first case with osseous metaplasia...
- [Ocular conjunctival pathology. A ten-year retrospective study in Toulouse-Rangueil University Hospital and literature review]Marie Laure Ranty
Service d anatomie pathologique et d histologie cytologie, Hopital Rangueil, 1 avenue Jean Poulhes, Toulouse Cedex 9, France
Ann Pathol 32:170-6. 2012..In one fourth of the cases, the final pathological diagnosis was different from the clinical diagnosis. It seems legitimate to recommend a pathological analysis of conjunctiva lesions systematically...
- Whipple disease revealed by musculocutaneous symptoms, with muscle biopsy cultures positive for Tropheryma whippleiVeronique Vincent
Rheumatology Department, CHU Purpan Teaching Hospital, Place du Docteur Baylac, 31059 Toulouse Cedex 9, France
Joint Bone Spine 74:506-8. 2007..Adequate antibiotic therapy ensured a favorable outcome. To our knowledge, this is the first case in which T. whipplei was recovered from muscle biopsy specimens, confirming the infectious nature of muscle involvement in Whipple disease...