Nahida E.-R.,Makassed General Hospital |
Guy L.,Biology and Pathology Center
Acta Paediatrica, International Journal of Paediatrics | Year: 2011
Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Sweat chloride test was 102 mmol/L. DNA analysis identified 2 mutations 3849 + 1G>A (intron 19) and 4382delA (exon 24) present in heterozygous status. To the best of our knowledge, our case is the first reported case in the literature of CF manifested by PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Conclusion: The genotype 3849 + 1G>A/4382delA found in our patient is described for the first time in the literature. It explains the lung involvement with the dehydration and electrolyte disturbances. The role of the mutation in exon 24 in cases of CF with PB syndrome remains to be determined. © 2011 The Author(s)/Acta Pædiatrica © 2011 Foundation Acta Pædiatrica. Source
Hysi I.,Albert Calmette Hospital |
Rousse N.,Albert Calmette Hospital |
Claret A.,Albert Calmette Hospital |
Bellier J.,Albert Calmette Hospital |
And 4 more authors.
Annals of Thoracic Surgery | Year: 2011
Background: Postpneumonectomy empyema (PPE) is a serious complication. The treatment options are similar to the management of any abscess, with drainage, ideally open, often of critical importance. After infection control, many techniques for space obliteration have been described. This study summarizes a 10-year experience in the management of PPE in our center. Methods: From 2000 to 2010, 90 patients (83 men) with PPE were treated. Median follow-up was 5.3 years. Once the diagnosis of empyema was confirmed, chest drainage was performed through open window thoracostomy (OWT), with ensuing extramusculoperiosteal thoracoplasties if healthy tissue was present. Results: Pneumonectomy was performed in 72 patients with lung cancer. Mortality after PPE was 2.2%. OWT achieved infection control in 89 patients. Seven OWT spontaneously healed, and 24 were never closed. The remaining 59 patients with OWT underwent thoracoplasty. Mortality after thoracoplasty was 5%. Empyema recurred in 3 patients. Overall success rate of PPE control after pleural obliteration was 91.5%. Conclusions: Thoracoplasty is a reliable filling procedure. It has a significantly higher success rate and a lower mortality rate than the other techniques. We believe that this procedure has a part to play in the future management of PPE. © 2011 The Society of Thoracic Surgeons. Source
Giraud M.,French Institute for Research in Computer Science and Automation |
Salson M.,French Institute for Research in Computer Science and Automation |
Duez M.,French Institute for Research in Computer Science and Automation |
Villenet C.,Lille 2 University of Health and Law |
And 9 more authors.
BMC Genomics | Year: 2014
Background: V(D)J recombinations in lymphocytes are essential for immunological diversity. They are also useful markers of pathologies. In leukemia, they are used to quantify the minimal residual disease during patient follow-up. However, the full breadth of lymphocyte diversity is not fully understood.Results: We propose new algorithms that process high-throughput sequencing (HTS) data to extract unnamed V(D)J junctions and gather them into clones for quantification. This analysis is based on a seed heuristic and is fast and scalable because in the first phase, no alignment is performed with germline database sequences. The algorithms were applied to TR γ HTS data from a patient with acute lymphoblastic leukemia, and also on data simulating hypermutations. Our methods identified the main clone, as well as additional clones that were not identified with standard protocols.Conclusions: The proposed algorithms provide new insight into the analysis of high-throughput sequencing data for leukemia, and also to the quantitative assessment of any immunological profile. The methods described here are implemented in a C++ open-source program called Vidjil. © 2014 Giraud et al.; licensee BioMed Central Ltd. Source
Standaert-Vitse A.,French Institute of Health and Medical Research |
Aliouat-Denis C.-M.,French Institute of Health and Medical Research |
Martinez A.,French Institute of Health and Medical Research |
Martinez A.,Japan National Institute of Advanced Industrial Science and Technology |
And 7 more authors.
PLoS ONE | Year: 2015
While Pneumocystis pneumonia (PcP) still impacts the AIDS patients, it has a growing importance in immunosuppressed HIV-negative patients. To determine the anti-Pneumocystis therapeutic efficacy of new compounds, animal and in vitro models have been developed. Indeed, well-designed mouse or rat experimental models of pneumocystosis can be used to describe the in vivo anti-Pneumocystis activity of new drugs. In vitro models, which enable the screening of a large panel of new molecules, have been developed using axenic cultures or co-culture with feeder cells; but no universally accepted standard method is currently available to evaluate anti-Pneumocystis molecules in vitro. Thus, we chose to explore the use of the SYTO-13 dye, as a new indicator of Pneumocystis viability. In the present work, we established the experimental conditions to define the in vitro pharmacodynamic parameters (EC50, Emax) of marketed compounds (trimethoprim/sulfamethoxazole, pentamidine, atovaquone) in order to specifically measure the intrinsic activity of these anti-P. carinii molecules using the SYTO-13 dye for the first time. Co-labelling the fungal organisms with anti-P. carinii specific antibodies enabled the measurement of viability of Pneumocystis organisms while excluding host debris from the analysis. Moreover, contrary to microscopic observation, large numbers of fungal cells can be analyzed by flow cytometry, thus increasing statistical significance and avoiding misreading during fastidious quantitation of stained organisms. In conclusion, the SYTO-13 dye allowed us to show a reproducible dose/effect relationship for the tested anti-Pneumocystis drugs. © 2015 Standaert-Vitse et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Source
Duployez N.,Biology and Pathology Center |
Nibourel O.,Biology and Pathology Center |
Nibourel O.,French Institute of Health and Medical Research |
Marceau-Renaut A.,Biology and Pathology Center |
And 14 more authors.
American Journal of Hematology | Year: 2014
Although acute myeloid leukemia (AML) with t(8;21) belongs to the favorable risk AML subset, relapse incidence may reach 30% in those patients. RUNX1-RUNX1T1 fusion transcript is a well-established marker for minimal residual disease (MRD) monitoring. In this study, we investigated the feasibility and performances of RUNX1-RUNX1T1 DNA as MRD marker in AML with t(8;21). In 17/22 patients with t(8;21)-positive AML treated in the French CBF-2006 trial, breakpoints in RUNX1 and RUNX1T1 were identified using long-range PCR followed by next-generation sequencing. RUNX1-RUNX1T1 DNA quantification was performed by real-time quantitative PCR using patient-specific primers and probe. MRD levels were evaluated in 71 follow-up samples from 16 patients, with a median of four samples [range 2-7] per patient. RUNX1 breakpoints were located in intron 5 in all cases. RUNX1T1 breakpoints were located in intron 1b in 15 cases and in intron 1a in two cases. RUNX1-RUNX1T1 MRD levels measured on DNA and RNA were strongly correlated (r=0.8, P<0.0001). Discordant MRD results were observed in 10/71 (14%) of the samples: in three samples from two patients who relapsed, RUNX1-RUNX1T1 was detectable only on DNA, while RUNX1-RUNX1T1 was detectable only on RNA in seven samples. MRD monitoring on genomic DNA is feasible, but with sensitivity variations depending on the patient breakpoint sequence and the qPCR assay efficiency. Although interpretation of the results is easier because it is closely related to the number of leukemic cells, this method greatly increases time, cost and complexity, which limits its interest in routine practice. © 2014 Wiley Periodicals, Inc. Source