Publications by authors named "Janot C"

Study Question: Is the 24-h urinary gonadotropin assay an effective diagnostic tool in central precocious puberty (CPP) in girls?

Summary Answer: This study is the first to provide 24-h urinary gonadotropin assay data, using an electrochemiluminescent immunoassay (CMIA), and to report its usefulness as a tool for the diagnosis of CPP.

What Is Known Already: Data about the GnRH test in the diagnosis of CPP are variable and there is no consensus regarding its interpretation. The measurement of FSH and LH in urines was previously reported to be an alternative biological tool.

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Article Synopsis
  • - Aldosterone synthase deficiency (ASD) is a rare genetic condition causing a lack of aldosterone hormone, primarily seen in newborns and infants, leading to salt wasting, vomiting, and failure to thrive.
  • - Early diagnosis is crucial for effective treatment, which includes rehydration and supplementation of salt and fludrocortisone, along with hormone level tests.
  • - A case study is presented of a newborn with typical symptoms plus some unusual features, and genetic testing revealed a new variant of the CYP11B2 gene associated with ASD.
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Oxetanes are strained heterocycles with unique properties that have triggered significant advances in medicinal chemistry. However, their synthesis still presents significant challenges that limit the use of this class of compounds in practical applications. In this Letter, we present a methodology that introduces a new synthetic disconnection to access oxetanes from native alcohol substrates.

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Objectives: Elevated free T3 (FT3) is an important feature for the early diagnosis of several diseases among which Grave's disease or Allan-Hernon-Dudley syndrome. However, there is a lack of age-adapted reference intervals for plasma thyroid hormones in children. We conducted a study to define reference values of peripheral FT3 in children using a commonly used automated immunoassay.

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To gain more insight on the pathogenesis of somatotroph pituitary adenomas, recent studies have focused on a subgroup of patients with acromegaly displaying a paradoxical growth hormone (GH) response during oral glucose tolerance test (OGTT). The paradoxical rise of GH after oral glucose intake occurs in about one-third of acromegaly patients and has been pathogenetically linked, by analogy to glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome, to the ectopic expression of GIP receptor (GIPR) in somatotroph adenoma cells. GIPR-expressing adenomas are negative for activating GNAS gene mutations and display distinct cytogenetic and DNA methylation profiles, highlighting their unique molecular pathogenesis.

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Despite recent advances, a general method for the synthesis of α-carbonyl-α'-(hetero)aryl sulfoxonium ylides is needed to benefit more greatly from the potential safety advantages offered by these compounds over the parent diazo compounds. Herein, we report the palladium-catalyzed cross-coupling of aryl bromides and triflates with α-carbonyl sulfoxonium ylides. We also report the use of this method for the modification of an active pharmaceutical ingredient and for the synthesis of a key precursor of antagonists of the neurokinin-1 receptor.

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The clinically silent, symptom-free T-cell prolymphocytic leukemia case that we report here confirms the major interest of the analysis of the blood smear as usual care of any emergent lymphocytosis. It also brings out the issue of the monitoring and follow-up of this uncommon presentation.

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The lack of general access to bis-substituted sulfoxonium ylides is addressed by developing a palladium-catalyzed C-H cross-coupling of α-ester sulfoxonium ylides with (hetero)aryl iodides, bromides, and triflates. Three different catalysts have been evaluated. This method is amenable to the late-stage functionalization of active pharmaceutical ingredients.

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The functionalization of carbon-hydrogen bonds in non-nucleophilic substrates using α-carbonyl sulfoxonium ylides has not been so far investigated, despite the potential safety advantages that such reagents would provide over either diazo compounds or their in situ precursors. Described herein are the cross-coupling reactions of sulfoxonium ylides with C(sp )-H bonds of arenes and heteroarenes in the presence of a rhodium catalyst. The reaction proceeds by a succession of C-H activation, migratory insertion of the ylide into the carbon-metal bond, and protodemetalation, the last step being turnover-limiting.

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Peroxisome proliferator-activated receptor-gamma (PPARgamma) plays a role in adipocyte differentiation and insulin sensitization. We identified and characterized a new C/T substitution at position -689 (-689C>T) in the P2 promoter of PPARgamma in a putative GATA binding site. By electrophoretic mobility shift assay, both GATA2 and GATA3 proteins could bind weakly to the wild-type P2 -689 GATA binding site but not to the mutated site.

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Background: The implementation of a quality-assurance program is a major requirement to ensure quality and safety of the final PBPC components intended for clinical use. It is not clear whether the quantification of CFU-GM and CD34+ cells should be done on fresh components and after cryopreservation, which better represents the actual composition of the graft.

Study Design And Methods: Correlation between prefreeze and postthaw MNCs, CD34+ cells, and CFU-GM collected from 126 patients undergoing BMT (n=43) or PBPC (n =83) transplantation were evaluated.

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Since 1990, specific documentation is established between the immunohematology laboratory of the French EFS Lorraine-Champagne and the marrow transplantation unit of the CHU of Nancy, for patients undergoing hematopoietic stem cells transplantation. These documents and the standardization of the immunohematologic follow-up of those patients, have contributed to the improvement of the transfusion safety.

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The latest generation of cell separators such as Trima (Gambro), Amicus (Baxter) and AS-TEC 204 (Fresenius), allow the collection of leucocyte-reduced platelet concentrates without secondary filtration. Fresenius has recently developed the COMTEC cell separator whose performance has been evaluated by several teams in France. This new cell separator is an improved version of the Fresenius AS-TEC 204 cell separator, designed to allow more efficient platelet collections.

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Background And Objectives: Posttransfusion hepatitis still occurs at an incidence of about 1 in 118,000 for HBV and 1 in 220,000 for HCV. This collaborative study aimed to determine the prevalence of a novel flavivirus, GBV-C/HGV, even though its role in transfusion-associated hepatitis is uncertain.

Materials And Methods: GBV-C/HGV RNA was detected by PCR using either the Boehringer detection kit or by primers previously described.

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The development of bone marrow transplantation in mismatched or matched unrelated donor situations, the recent use of peripheral blood stem cells for allogeneic transplants, the standardization and respect of good methodology practices highlight the need to evaluate new safe methods of T cell depletion (TCD). We have performed 79 in vitro TCD using five techniques: rabbit complement cytotoxicity, CD2-CD7 immunomagnetic depletion, CD5-CD8 panning system, CD34 positive purging and counterflow centrifugation elutriation (CCE). We analyzed these different approaches with regard to the degree of T and B depletion, recovery of progenitors and NK cells.

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Background: A recent hepatitis C virus (HCV) outbreak has been suspected of being caused by an infusion of intravenous immune globulin.

Study Design And Methods: Three laboratories were mandated by the French regulatory agency to prospectively screen on a national scale those persons having received suspected batches: 233 exposed patients were recalled and tested for HCV antibody and for HCV RNA.

Results: Nineteen patients (8.

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The prevalence of HCV seropositivity observed in various populations raise the issue of the contamination routes and the corollary exclusion criteria of risk subjects from blood donation. There are various diagnostic methods for HCV infection. The biological diagnosis is reached at three levels: circulating antibody screening by second and third generation tests; screening validation by immunoblot, to distinguish between the various HCV specific antibodies and detection of viral nucleic acids by molecular biology.

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Correlations between different peripheral blood parameters and harvesting yields of stem cells were analysed in 230 leukaphereses performed on 61 patients. According to multivariate analysis, the number of circulating CD34 positive cells was found to provide the best preleukapheresis parameter for predicting the quality of peripheral blood progenitor cell harvest. A high correlation coefficient and small 95% confidence and prediction intervals would indicate the assay of CD34 positive cells in peripheral blood to be a unique tool essential for monitoring the collection of circulating haematopoietic progenitors.

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To screen and identify irregular antibodies, whatever the technique used, fresh erythrocytes (RBCs) are needed to set up the panel. Solid-phase tests using dried blood cells are available, but the technique is based on the adherence of sensitized RBCs, which have a short life span. We have checked antigen survival on membranes with a saline test and an antiglobulin test for two methods to preserve the antigen substrate: freeze-drying of RBCs and preparation of RBC membranes.

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