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Hôpital-Camfrout, France

Pilliere R.,Hopital Ambroise Pare
Sang Thrombose Vaisseaux | Year: 2013

Tako-Tsubo cardiomyopathy is defined as an acute myocardial stunning, occurring mainly in post menopausal women, after an acute stress. The typical clinical presentation is a chest pain mimicking an acute coronary syndrome and at left ventriculogram an akinesia of apical two third of left ventricle. Several clinical variants have been described. In 1/3 of cases, the pattern is basal or median. In 1/3 of cases, none acute stress is found. The existence of a concomitant coronary disease does no more exclude the diagnosis. The two more frequent characteristics are circumferencial dysfunction non compatible with coronary segmental localization and reversible evolution in few weeks. Unspecific complications are possible but the evolution is the complete recovery with a low recurrence rate (4%).

Gineys R.,Service dOphtalmologie | Bodaghi B.,Service dOphtalmologie | Carcelain G.,Laboratoire dImmunologie Tissulaire et Cellulaire | Cassoux N.,Service dOphtalmologie | And 4 more authors.
American Journal of Ophthalmology | Year: 2011

Purpose: To evaluate the accuracy of QuantiFERON-TB Gold testing in patients with presumptive tuberculosis-ocular inflammation. Design: Prospective nonrandomized case series and clinical laboratory investigation. Methods: Ninety-six consecutive patients presenting with ocular inflammation between January and October 2007 were tested using QuantiFERON-TB Gold. Positive patients received a 6-month anti-tuberculosis treatment. Patient follow-up ranged from 12 months to 24 months. Treatment was considered effective at the end of follow-up, in cases of no or a 2-point decrease of ocular inflammation (SUN criteria) and systemic corticosteroids stopped or tapered to 10 mg/day. Results: Mean age was 51 ± 17 years. Types of ocular inflammation included scleritis (n = 7), panuveitis (n = 34), and posterior (n = 15), intermediate (n = 14), and anterior uveitis (n = 15). QuantiFERON-TB Gold was positive in 42 cases (44%), negative in 51 cases (53%), and undetermined in 3 cases (3%). Among positive QuantiFERON-TB Gold patients, 25 received a full anti-tuberculosis treatment, which was effective in 15 cases (60%). Associated systemic steroids were given to 6 patients and tapered to 10 mg/day or less in all cases. Median QuantiFERON-TB Gold value was significantly higher in the group with a successful therapeutic response (7.67 IU/mL [0.46 to 33.37]) compared to the group with treatment failure (1.22 IU/mL [0.61 to 4.4]), P =.026. Conclusion: Results of anti-tuberculosis treatment were encouraging in QuantiFERON-TB Goldpositive ocular inflammation, especially with values over 2 IU/mL in our study, suggesting that a higher cut-off value than that given by the manufacturer should be considered to better identify ocular inflammation that can benefit from full anti-tuberculosis treatment. © 2011 Elsevier Inc.

Pham-Thi N.,French National Center for Scientific Research | Bidat E.,Hopital Ambroise Pare
Archives de Pediatrie | Year: 2014

Solid food introduction in childhood suffered in recent decades many changes due to findings of increased allergies with a likely mismatch schemes and a recent reversal of recommendations for delaying the introduction of foods. The advice may still change due to the latest findings on the mechanisms of sensitization. There is little or no certainty on the date and to provide food at the right time. It seems that the introduction of solid foods may be favorable age between 4 and 6months. Delaying the introduction of allergenic potential has not yet demonstrated a preventive effect. It could be preferable to induce an early oral tolerance that cause allergy with transcutaneous sensitization by ingesting any new dietary protein introduced in the environment of the infant. © 2014 Elsevier Masson SAS.

Roth A.D.,University of Geneva | Delorenzi M.,University of Lausanne | Delorenzi M.,Swiss Institute of Bioinformatics | Tejpar S.,University Hospital Gasthuisberg | And 12 more authors.
Journal of the National Cancer Institute | Year: 2012

BackgroundThe prognostic potential of individual clinical and molecular parameters in stage II/III colon cancer has been investigated, but a thorough multivariable assessment of their relative impact is missing.MethodsTumors from patients (N 1404) in the PETACC3 adjuvant chemotherapy trial were examined for BRAF and KRAS mutations, microsatellite instability (MSI), chromosome 18q loss of heterozygosity (18qLOH), and SMAD4 expression. Their importance in predicting relapse-free survival (RFS) and overall survival (OS) was assessed by Kaplan-Meier analyses, Cox regression models, and recursive partitioning trees. All statistical tests were two-sided.Results MSI-high status and SMAD4 focal loss of expression were identified as independent prognostic factors with better RFS (hazard ratio [HR] of recurrence 0.54, 95% CI 0.37 to 0.81, P . 003) and OS (HR of death 0.43, 95% CI 0.27 to 0.70, P . 001) for MSI-high status and worse RFS (HR 1.47, 95% CI 1.19 to 1.81, P <. 001) and OS (HR 1.58, 95% CI 1.23 to 2.01, P <. 001) for SMAD4 loss. 18qLOH did not have any prognostic value in RFS or OS. Recursive partitioning identified refinements of TNM into new clinically interesting prognostic subgroups. Notably, T3N1 tumors with MSI-high status and retained SMAD4 expression had outcomes similar to stage II disease.ConclusionsConcomitant assessment of molecular and clinical markers in multivariable analysis is essential to confirm or refute their independent prognostic value. Including molecular markers with independent prognostic value might allow more accurate prediction of prognosis than TNM staging alone. © 2012 The Author 2012. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Weraarpachai W.,Montreal Neurological Institute | Sasarman F.,Montreal Neurological Institute | Nishimura T.,Montreal Neurological Institute | Antonicka H.,Montreal Neurological Institute | And 5 more authors.
American Journal of Human Genetics | Year: 2012

We investigated a family in which the index subject presented with severe congenital lactic acidosis and dysmorphic features associated with a cytochrome c oxidase (COX)-assembly defect and a specific decrease in the synthesis of COX I, the subunit that nucleates COX assembly. Using a combination of microcell-mediated chromosome transfer, homozygosity mapping, and transcript profiling, we mapped the gene defect to chromosome 12 and identified a homozygous missense mutation (c.88G>A) in C12orf62. C12orf62 was not detectable by immunoblot analysis in subject fibroblasts, and retroviral expression of the wild-type C12orf62 cDNA rescued the biochemical phenotype. Furthermore, siRNA-mediated knockdown of C12orf 62 recapitulated the biochemical defect in control cells and exacerbated it in subject cells. C12orf62 is apparently restricted to the vertebrate lineage. It codes for a very small (6 kDa), uncharacterized, single-transmembrane protein that localizes to mitochondria and elutes in a complex of ∼110 kDa by gel filtration. COX I, II, and IV coimmunoprecipated with an epitope-tagged version of C12orf62, and 2D blue-native-polyacrylamide-gel-electrophoresis analysis of newly synthesized mitochondrial COX subunits in subject fibroblasts showed that COX assembly was impaired and that the nascent enzyme complex was unstable. We conclude that C12orf62 is required for coordination of the early steps of COX assembly with the synthesis of COX I. © 2012 The American Society of Human Genetics.

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