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Brissot P.,University of Rennes 1 | Bardou-Jacquet E.,University of Rennes 1 | Jouanolle A.-M.,Rennes University Hospital Center | Loreal O.,University of Rennes 1
Trends in Molecular Medicine | Year: 2011

Iron disorders of genetic origin are mainly composed of iron overload diseases, the most frequent being HFE-related hemochromatosis. Hepcidin deficiency underlies iron overload in HFE-hemochromatosis as well as in several other genetic iron excess disorders, such as hemojuvelin or hepcidin-related hemochromatosis and transferrin receptor 2-related hemochromatosis. Deficiency of ferroportin, the only known cellular protein iron exporter, produces iron overload in the typical form of ferroportin disease. By contrast, genetically enhanced hepcidin production, as observed in matriptase-2 deficiency, generates iron-refractory iron deficiency anemia. Diagnosis of these iron storage disorders is usually established noninvasively through combined biochemical, imaging and genetic approaches. Moreover, improved knowledge of the molecular mechanisms accounting for the variations of iron stores opens the way of novel therapeutic approaches aiming to restore normal iron homeostasis. In this review, we will summarize recent findings about these various genetic entities that have been identified owing to an exemplary interplay between clinicians and basic scientists. © 2011 Elsevier Ltd.


Patent
University of Rennes 1, Ecoles Des Hautes Etudes En Sante Publique Ehesp, Center Eugene Marquis, Rennes University Hospital Center, University of the French West Indies and Guiana | Date: 2014-01-31

In particular the present invention relates to a method for predicting the risk of relapse and distant metastasis in a patient suffering from a triple negative breast cancer comprising the step of i) determining the level of soluble CD95L in a blood sample obtained from the patient ii) comparing the level determined at step i) with a predetermined reference value and iii) concluding that the patient will exhibit an increased risk of relapse and distant metastasis when the level determined at step i) is higher than the predetermined reference value or concluding that the patient will exhibit a decreased risk of relapse and distant metastasis when the level determined at step i) is lower than the predetermined reference value. The present invention also relates to a method of preventing metastases in a subject suffering from triple negative breast cancer comprising the steps consisting of i) predicting the risk of relapse and distant metastasis by the method according to the invention and ii) administering the subject with a therapeutically effective amount of a CD95 antagonist when it is concluded at step i) that the subject will exhibit an increased risk of relapse and distant metastasis.


Patent
University of Rennes 1, Etablissement Francais Du Sang and Rennes University Hospital Center | Date: 2014-02-07

The present invention relates to methods and kits for predicting the survival time of a patient suffering from a diffuse large B-cell lymphoma (DLBCL). In particular, the present invention relates to a method for predicting the survival time of a patient suffering from a diffuse large B-cell lymphoma (DLBCL) comprising the step of i) determining the level of sPD-L1 in a blood sample obtained from the patient ii) comparing the level determined at step i) with a predetermined reference value and iii) concluding that the patient has a poor prognosis when the level determined at step i) is higher than the predetermined reference value or concluding that the patient has a good prognosis when the level determined at step i) is lower than the predetermined reference value.


Lam C.S.P.,Lung and Blood Institutes Framingham Heart Study | Donal E.,Rennes University Hospital Center | Kraigher-Krainer E.,Medical University of Graz | Vasan R.S.,Lung and Blood Institutes Framingham Heart Study | Vasan R.S.,Boston University
European Journal of Heart Failure | Year: 2011

Heart failure with preserved ejection fraction (HFPEF) is increasingly recognized as a major public health problem worldwide. Significant advances have been made in our understanding of the epidemiology of HFPEF over the past two decades, with the publication of numerous population-based epidemiological studies, large heart failure registries, and randomized clinical trials. These recent studies have provided detailed characterization of larger numbers of patients with HFPEF than ever before. This review summarizes the state of current knowledge with regards to the disease burden, patient characteristics, clinical course, and outcomes of HFPEF. Despite the wealth of available data, substantive gaps in knowledge were identified. These gaps represent opportunities for further research in HFPEF, a syndrome that is clearly a rising societal burden and that is associated with substantial morbidity and mortality. © 2010 The Author.


Holzmeister J.,University of Zürich | Leclercq C.,Rennes University Hospital Center
The Lancet | Year: 2011

Implantable cardioverter defibrillators and cardiac resynchronisation therapy (CRT) have become standard of care in modern treatment for heart failure. Results from trials have provided ample evidence that CRT, in addition to its proven benefits in patients with symptomatic heart failure (New York Heart Association [NYHA] class III), might also reduce morbidity and mortality in those with mildly symptomatic heart failure (NYHA class II). As a result, the 2010 European Society of Cardiology guidelines now recommend CRT for both patient populations. In this review we summarise and critically assess the landmark randomised clinical trials REVERSE, MADIT-CRT, and RAFT. Furthermore, we discuss the rationale and available evidence for other emerging indications of CRT, including its use in patients with a mildly reduced left ventricular ejection fraction (>35), in those with a narrow QRS complex (≤120 ms), and in those with concomitant bradyarrhythmic pacemaker indications. We also focus on patients who do not respond to CRT, and on CRT optimisation. © 2011 Elsevier Ltd.


Linde C.,Karolinska University Hospital | Abraham W.T.,Ohio State University | Gold M.R.,Medical University of South Carolina | Daubert C.,Rennes University Hospital Center
Journal of the American College of Cardiology | Year: 2010

Objectives The purpose of this study was to determine the effects of cardiac resynchronization therapy (CRT) with respect to heart failure etiology among patients in the REVERSE (REsynchronization reVErses Remodeling in Systolic Left vEntricular Dysfunction) study. Background CRT improves outcomes in New York Heart Association functional class III/IV heart failure with wide QRS with a more pronounced effect on left ventricular (LV) reverse remodeling in nonischemic patients. Methods A total of 277 patients with nonischemic heart disease (IHD) and 333 with IHD etiology in New York Heart Association functional class I or II with QRS <120 ms and left ventricular ejection fraction ≤40% received a CRT (± implantable cardioverter-defibrillator) and were randomized to CRT-ON or CRT-OFF for 12 months. The primary end point was the percentage of patients worsened by the HF clinical composite response, and multiple prespecified secondary end points were evaluated regarding etiology using univariable and multivariable analysis. Results At baseline, IHD patients were significantly older and had more comorbidities and less dyssynchrony than non-IHD patients. In non-IHD patients, 10% worsened in CRT-ON compared with 19% in CRT-OFF (p = 0.01). In IHD patients, 20% worsened in the CRT-ON compared with 24% in the CRT-OFF group (p = 0.10). Non-IHD patients assigned to CRT-ON improved more in left ventricular end-systolic volume index than IHD patients. Randomization to CRT, left bundle branch block, and wider QRS duration independently predicted response to both end points, whereas non-IHD etiology was an independent predictor only for left ventricular end-systolic volume index. Conclusions This substudy of REVERSE shows that CRT reverses left ventricular remodeling with a more extensive effect on nonischemic patients. Etiology was, however, not an independent predictor of clinical response. (REsynchronization reVErses Remodeling in Systolic Left vEntricular Dysfunction [REVERSE]; NCT00271154) © 2010 American College of Cardiology Foundation.


Verin M.,Rennes University Hospital Center
European Journal of Human Genetics | Year: 2016

Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We detected two deletions of exon 2 of SLC20A2 in two unrelated patients, which segregated with PBC in one family. We then reanalyzed the same series using a QMPSF assay including one amplicon in each exon of SLC20A2 and detected two supplemental partial deletions in two patients: one deletion of exon 4 and one deletion of exons 4 and 5. These deletions were missed by the first screening step of CANOES but could finally be detected after readjustment of bioinformatic parameters and use of a genotyping step of CANOES. This study reports the first partial deletions of SLC20A2 and strengthens its position as the major PBC-causative gene. It is possible to detect short CNVs from WES data, although the sensitivity of such tools should be evaluated in comparison with other methods.European Journal of Human Genetics advance online publication, 1 June 2016; doi:10.1038/ejhg.2016.50. © 2016 Macmillan Publishers Limited


Pastoret C.,Rennes University Hospital Center
Cytometry. Part B, Clinical cytometry | Year: 2013

The Kleihauer-Betke test (KBT) is the most widely used assay for fetomaternal hemorrhage (FMH) detection in rhesus D negative women. In the current study, we sought to evaluate the performance of a flow cytometry (FCM) kit (FMH QuikQuant) using an anti-HbF antibody. Eighty-three pregnant women, 58 umbilical cord blood (UCB) dilutions in adult blood, and 6 control samples were tested in parallel with FCM and KBT. Firstly, we compared for each assay, on the 58 UCB preparations, results obtained to dilutions prepared. FCM results showed an excellent correlation (r = 0.97), a high reproducibility with a coefficient of variation lower than 20% for values reaching 10 fetal RBCs. KBT values were correlated (r = 0.94) but exhibited a poor reproducibility. Then, we compared both techniques on all samples. FCM showed a good correlation with KBT (r = 0.87) but the KBT exhibited a systematic overestimation of the FMH. For 8 out of 83 pregnant women, KBT was positive. Five were concordant with FCM results (KBT+/FCM+). On the three discordant (KBT+/FCM-), 2 were finally classified as false positive of the KBT because a second control sample was negative and additionally, FCM identified an increased rate of F cells. One discordant case (KBT+/FCM-) remained unexplained. By receiver operating characteristic analysis, we found a threshold at 4.5 RBCs for FCM with a sensitivity of 89.8% and a specificity of 93.2%. The FMH QuikQuant kit is a reliable and highly reproductive FCM method for FMH quantification. Copyright © 2012 International Clinical Cytometry Society.


Gandon Y.,Rennes University Hospital Center
Diagnostic and Interventional Imaging | Year: 2014

Colorectal cancer, which is the third most frequent cancer and the cancer with the second highest mortality rate, frequently develops on a pre-existing adenomatous polyps whose slow growth and malignant degeneration can be identified and controlled by effective screening. Although most lesions can be detected and resected during optical colonoscopy (OC), the cost, risk and poor acceptance of this technique by the general population means that it is reserved for high-risk or very high-risk individuals. The fecal occult blood test (FOBT) (such as the Hemoccult®) is proposed for intermediate-risk individuals between 50 and 75 years old. However, despite the improvements that have been made in this method, sensitivity is low, and although it is simple, it is too rarely used. CT colonography (virtual colonoscopy) is proposed in case of failure, additional risk factors or refusal of optical colonoscopy in high-risk patients or in the presence of a positive FOBT. It should also be proposed as an alternative to the FOBT test to patients who accept the constraints of this technique. © 2014 Éditions françaises de radiologie.


Patent
Rennes University Hospital Center | Date: 2013-08-21

The apparent diffusion coefficient of biological tissue can be estimated using weighted-diffusion measurement data produced for a known b-value in combination with baseline measurement data, such as STIR data, T2-weighted data, etc. produced by a magnetic resonance imaging apparatus (3), when at least one reference sample (5) of known diffusion properties is imaged at the same time as the tissue. The known diffusion values can be temperature-adjusted based on a temperature measurement made by evaluating, in MRI image data, the length of a liquid column in an MRI thermometer (30) that includes a relatively large reservoir (33) and a measurement tube (31) of cross-section 1 millimetre or larger.

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