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Robert T.,Hopital de Sion | Duc C.,Institute Central des Hopitaux Valaisans | Ruiz D.S.M.,Hopital de Sion | Morard M.,Hopital de Sion
Neurologia i Neurochirurgia Polska | Year: 2014

Solitary fibrous tumours (SFTs) are rare WHO grade I mesenchymal neoplasms that were first described in the visceral pleura. A wide variety of locations of SFT have been reported but only twelve cases of intramedullary solitary fibrous tumour. We report a case of thoracic spinal cord SFT. A 49-year-old woman presented with clinical signs of dorsal myelopathy. Magnetic resonance imaging revealed an intradural mass at level T9-T10 which showed imaging features consistent both for an intra- and an extramedullary location of a solid tumour. Imaging findings were confirmed during surgery which was successful in resecting the extramedullary component. The intramedullary component could only be partially resected. Solitary fibrous tumour is a rare pathological entity in the central nervous system. The course of intramedullary SFT is unknown and careful long-term follow-up is recommended. © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Rey V.,University of Lausanne | Du Pasquier R.,University of Lausanne | Muehl A.,Service de Neurologie | Peter O.,Institute Central des Hopitaux Valaisans | Michel P.,University of Lausanne
Revue Neurologique | Year: 2010

The most frequent clinical manifestation of borreliosis in Switzerland is erythema migrans, with about 2500 patients each year. Neurological manifestations are rare, mostly hyperalgesic radiculitis (Bannwarth syndrome), aseptic meningitis or cranial nerve involvement. We report the first Swiss patient with meningovasculitis due to neuroborreliosis, with recurrent multiple ischemic strokes in multiple vascular territories. The treatment with ceftriaxone stopped the progression, but the patient is still suffering from severe invalidating cognitive disorders. We also comment on the pathophysiology and review the literature of other clinical cases. © 2010 Elsevier Masson SAS. All rights reserved.

The pandemic was declared over in October 2010. In this article we review some publications that describe the specificity of the 2009 A(N1N1) virus or suggest new approaches to design more efficacious and better accepted vaccines. Antibiotics resistance continue to increase with the emergence of enterobacteria resistant to almost all available agents. Use of old drugs like fosfomycin is reconsidered. 2010 has also brought progress in the diagnosis of infectious diseases.

Jaton K.,University of Lausanne | Peter O.,Institute Central des Hopitaux Valaisans | Raoult D.,Aix - Marseille University | Tissot J.-D.,Sanguine | Greub G.,University of Lausanne
New Microbes and New Infections | Year: 2013

Q fever is a worldwide zoonotic infectious disease due to Coxiella burnetii. The clinical presentation may be acute (pneumonia and/or hepatitis) or chronic (most commonly endocarditis). Diagnosis mainly relies on serology and PCR. We therefore developed a quantitative real-time PCR. We first tested blindly its performance on various clinical samples and then, when thoroughly validated, we applied it during a 7-year period for the diagnosis of both acute and persistent C. burnetii infection. Analytical sensitivity (< 10 copies/PCR) was excellent. When tested blindly on 183 samples, the specificity of the PCR was 100% (142/142) and the sensitivity was 71% (29/41). The sensitivity was 88% (7/8) on valvular samples, 69% (20/29) on blood samples and 50% (2/4) on urine samples. This new quantitative PCR was then successfully applied for the diagnosis of acute Q fever and endovascular infection due to C. burnetii, allowing the diagnosis of Q fever in six patients over a 7-year period. During a local small cluster of cases, the PCR was also applied to blood from 1355 blood donors; all were negative confirming the high specificity of this test. In conclusion, we developed a highly specific method with excellent sensitivity, which may be used on sera for the diagnosis of acute Q fever and on various samples such as sera, valvular samples, aortic specimens, bone and liver, for the diagnosis of persistent C. burnetii infection. © 2013 European Society of Clinical Microbiology and Infectious Diseases.

Bouzourene H.,University of Lausanne | Hutter P.,Institute Central des Hopitaux Valaisans | Losi L.,University of Modena and Reggio Emilia | Martin P.,University of Lausanne | Benhattar J.,University of Lausanne
Familial Cancer | Year: 2010

Lynch syndrome is one of the most common hereditary colorectal cancer (CRC) syndrome and is caused by germline mutations of MLH1, MSH2 and more rarely MSH6, PMS2, MLH3 genes. Whereas the absence of MSH2 protein is predictive of Lynch syndrome, it is not the case for the absence of MLH1 protein. The purpose of this study was to develop a sensitive and cost effective algorithm to select Lynch syndrome cases among patients with MLH1 immunohistochemical silencing. Eleven sporadic CRC and 16 Lynch syndrome cases with MLH1 protein abnormalities were selected. The BRAF c.1799T>A mutation (p.Val600Glu) was analyzed by direct sequencing after PCR amplification of exon 15. Methylation of MLH1 promoter was determined by Methylation-Sensitive Single- Strand Conformation Analysis. In patients with Lynch syndrome, there was no BRAF mutation and only one case showed MLH1 methylation (6%). In sporadic CRC, all cases were MLH1 methylated (100%) and 8 out of 11 cases carried the above BRAF mutation (73%) whereas only 3 cases were BRAF wild type (27%). We propose the following algorithm: (1) no further molecular analysis should be performed for CRC exhibiting MLH1 methylation and BRAF mutation, and these cases should be considered as sporadic CRC;(2) CRC with unmethylated MLH1 and negative for BRAF mutation should be considered as Lynch syndrome;and (3) only a small fraction of CRC with MLH1 promoter methylation but negative for BRAF mutation should be true Lynch syndrome patients. These potentially Lynch syndrome patients should be offered genetic counselling before searching for MLH1 gene mutations. ©Springer Science+Business Media B.V. 2009.

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