Tegtmeyer L.C.,University of Munster |
Rust S.,Leibniz Institute For Arterioskleroseforschung |
Van Scherpenzeel M.,Radboud University Nijmegen |
Ng B.G.,Sanford Burnham Institute for Medical Research |
And 47 more authors.
New England Journal of Medicine | Year: 2014
BACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest. METHODS: Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings. Sequencing identified additional mutations in 15 other families. Phosphoglucomutase 1 enzyme activity was assayed on cell extracts. Analyses of glycosylation efficiency and quantitative studies of sugar metabolites were performed. Galactose supplementation in fibroblast cultures and dietary supplementation in the patients were studied to determine the effect on glycosylation. RESULTS: Phosphoglucomutase 1 enzyme activity was markedly diminished in all patients. Mass spectrometry of transferrin showed a loss of complete N-glycans and the presence of truncated glycans lacking galactose. Fibroblasts supplemented with galactose showed restoration of protein glycosylation and no evidence of glycogen accumulation. Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS: Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. Copyright © 2014 Massachusetts Medical Society.
PubMed | Center Medico Chirurgical Of Marie Lannelongue, Center Hospitalier University Gabriel Montpied, University of Nantes, Lille University Hospital Center and 2 more.
Type: Journal Article | Journal: Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions | Year: 2016
The short-term efficacy and safety of transcatheter closure (TCC) for the management of coronary artery fistulas (CAFs) was investigated in pediatric patients.CAFS are rare with potentially severe complications and their management is still a matter of debate. Percutaneous closure appears to be the treatment of choice in anatomically suitable vessels but limited data are available in the pediatric population.This retrospective, observational, multicenter, national study included patients under 16 years of age who underwent TCC of a congenital CAF. Patients with additional congenital heart defect were excluded.61 patients (36 girls, 25 boys) with a median age of 0.6 year [0-15.4] at diagnosis and 3.9 years [0-16] at procedure were included. The CAF was large in 48 patients (79%); it was distal in 23 (38%) and proximal in 22 (36%). Most patients (77%) were asymptomatic at diagnosis. Clinical signs of congestive heart failure were present in seven patients (11%). Perioperative complications included three cases of ST elevation myocardial infarction (exclusively during attempted closure of a distal CAF), three devices migrations, and one case of leg ischemia. One patient died after surgical closure of a large distal CAF that could not be closed by TCC. Follow-up data were collected for 43 patients (70%) for a median of 91 days [0-4,824]. The Kaplan-Meyer estimate for complete occlusion at 2 years was 73 7.6%.TCC in the pediatric population appears to be effective and associated with few complications.
PubMed | Besancon University Hospital Center, University of Limoges, Center Hospitalier University Dijon Bocage, Montpellier University and 11 more.
Type: Journal Article | Journal: JAMA | Year: 2015
Although retrievable inferior vena cava filters are frequently used in addition to anticoagulation in patients with acute venous thromboembolism, their benefit-risk ratio is unclear.To evaluate the efficacy and safety of retrievable vena cava filters plus anticoagulation vs anticoagulation alone for preventing pulmonary embolism recurrence in patients presenting with acute pulmonary embolism and a high risk of recurrence.Randomized, open-label, blinded end point trial (PREPIC2) with 6-month follow-up conducted from August 2006 to January 2013. Hospitalized patients with acute, symptomatic pulmonary embolism associated with lower-limb vein thrombosis and at least 1 criterion for severity were assigned to retrievable inferior vena cava filter implantation plus anticoagulation (filter group; n=200) or anticoagulation alone with no filter implantation (control group; n=199). Initial hospitalization with ambulatory follow-up occurred in 17 French centers.Full-dose anticoagulation for at least 6 months in all patients. Insertion of a retrievable inferior vena cava filter in patients randomized to the filter group. Filter retrieval was planned at 3 months from placement.Primary efficacy outcome was symptomatic recurrent pulmonary embolism at 3 months. Secondary outcomes were recurrent pulmonary embolism at 6 months, symptomatic deep vein thrombosis, major bleeding, death at 3 and 6 months, and filter complications.In the filter group, the filter was successfully inserted in 193 patients and was retrieved as planned in 153 of the 164 patients in whom retrieval was attempted. By 3 months, recurrent pulmonary embolism had occurred in 6 patients (3.0%; all fatal) in the filter group and in 3 patients (1.5%; 2 fatal) in the control group (relative risk with filter, 2.00 [95% CI, 0.51-7.89]; P=.50). Results were similar at 6 months. No difference was observed between the 2 groups regarding the other outcomes. Filter thrombosis occurred in 3 patients.Among hospitalized patients with severe acute pulmonary embolism, the use of a retrievable inferior vena cava filter plus anticoagulation compared with anticoagulation alone did not reduce the risk of symptomatic recurrent pulmonary embolism at 3 months. These findings do not support the use of this type of filter in patients who can be treated with anticoagulation.clinicaltrials.gov Identifier: NCT00457158.
Early diagnosis and monitoring of mucormycosis by detection of circulating DNA in serum: retrospective analysis of 44 cases collected through the French Surveillance Network of Invasive Fungal Infections (RESSIF)
PubMed | Besancon University Hospital Center, Center Hospitalier University Gabriel Montpied, University of Nantes, University of Strasbourg and 9 more.
Type: Journal Article | Journal: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases | Year: 2016
The main objective of this study was to assess the diagnostic performance of a set of three Mucorales quantitative PCR assays in a retrospective multicentre study. Mucormycosis cases were recorded thanks to the French prospective surveillance programme (RESSIF network). The day of sampling of the first histological or mycological positive specimen was defined as day 0 (D0). Detection of circulating DNA was performed on frozen serum samples collected from D-30 to D30, using quantitative PCR assays targeting Rhizomucor, Lichtheimia, Mucor/Rhizopus. Forty-four patients diagnosed with probable (n=19) or proven (n=25) mucormycosis were included. Thirty-six of the 44 patients (81%) had at least one PCR-positive serum. The first PCR-positive sample was observed 9days (range 0-28days) before diagnosis was made using mycological criteria and at least 2days (range 0-24days) before imaging. The identifications provided with the quantitative PCR assays were all concordant with culture and/or PCR-based identification of the causal species. Survival rate at D84 was significantly higher for patients with an initially positive PCR that became negative after treatment initiation than for patients whose PCR remained positive (48% and 4%, respectively; p <10
Montange M.F.,University of Lyon |
Vasiljevic A.,Groupement Hospitalier Est |
Bergemer Fouquet A.-M.,Service dAnatomie et de Cytologie Pathologiques |
Bernier M.,Service dAnatomie et de Cytologie Pathologiques |
And 19 more authors.
American Journal of Surgical Pathology | Year: 2012
Neuroepithelial papillary tumor of the pineal region (PTPR) has been defined as a distinct entity that is increasingly being recognized, with 96 cases now reported. This tumor shares morphologic features with both ependymomas and choroid plexus tumors. PTPR is characterized by an epithelial-like growth pattern in which the vessels are covered by layers of tumor cells forming perivascular pseudorosettes. These tumors exhibit various combinations of papillary and solid architecture, making the differential diagnosis of PTPR difficult to establish. We report the detailed description of the histopathologic features of a large series of PTPRs from 20 different centers and distinguish 2 subgroups of tumors with either a striking papillary growth pattern or a papillary and solid growth pattern. We highlight the findings that PTPRs have unusual vessels with multiple lumina and frequently show detachment of the border of the tumoral cells from the vascular wall. The 2 PTPR subgroups present similar clinical characteristics and immunophenotypes. We confirmed and extended the results of previous ultrastructural studies on the presence of intercellular junctions at the apical part of tumoral cells. The expression of the tight junction proteins claudin-1, claudin-2, and claudin-3 was investigated by immunohistochemistry. Claudin-1 and claudin-3, but not claudin-2, were expressed in PTPRs and in the fetal subcommissural organ, potentially the origin of this tumor. In contrast, all 3 claudins were expressed in choroid plexus papillomas. Claudin expression may help in the diagnosis of PTPRs and can be used in combination with other markers, such as CK18, NCAM, E-cadherin, MAP-2, and Kir 7.1. © 2012 by Lippincott Williams & Wilkins.
Ploin D.,Service des Urgences Pediatriques |
Schwarzenbach F.,Becton Dickinson |
Dubray C.,Center Hospitalier University Gabriel Montpied |
Nicolas J.-F.,Center Hospitalier Lyon Sud |
And 3 more authors.
Vaccine | Year: 2011
Whereas the knowledge of skin thickness is essential to determine microneedle length and ensure proper administration of and better responses to intradermal vaccines, very few figures are available, especially in infants and children. Using ultrasound echography, we investigated skin thickness in 384 children aged 4-7, 12-18, and 54-66 months at potential body sites for intradermal vaccine delivery: deltoid, suprascapular, upper back, and lumbar area. The mean epidermis plus dermis thickness was significantly higher at the suprascapular than at the deltoid site (1.29. mm vs. 1.22. mm) and remained relatively unchanged whatever the BMI, age, sex, and skin phototype. In the 43 children aged 54-66 months, the mean skin thickness was significantly higher in the upper than in the lumbar area (1.39. mm vs. 1.31. mm). In this study setting, the heterogeneity in skin thickness cannot be considered sufficient to indicate various microneedle lengths for various ages or injection sites. © 2011 Elsevier Ltd.
Fontarensky M.,Center Hospitalier University Gabriel Montpied |
Alfidja A.,Center Hospitalier University Gabriel Montpied |
Perignon R.,Center Hospitalier University Gabriel Montpied |
Schoenig A.,Center Hospitalier University Gabriel Montpied |
And 4 more authors.
Radiology | Year: 2015
Purpose: To evaluate the accuracy of reduced-dose abdominal computed tomographic (CT) imaging by using a new generation model-based iterative reconstruction (MBIR) to diagnose acute renal colic compared with a standard-dose abdominal CT with 50% adaptive statistical iterative reconstruction (ASIR). Materials and Methods: This institutional review board-approved prospective study included 118 patients with symptoms of acute renal colic who underwent the following two successive CT examinations: standard-dose ASIR 50% and reduced-dose MBIR. Two radiologists independently reviewed both CT examinations for presence or absence of renal calculi, differential diagnoses, and associated abnormalities. The imaging findings, radiation dose estimates, and image quality of the two CT reconstruction methods were compared. Concordance was evaluated by k coefficient, and descriptive statistics and t test were used for statistical analysis. Results: Intraobserver correlation was 100% for the diagnosis of renal calculi (κ = 1). Renal calculus (τ = 98.7%; κ = 0.97) and obstructive upper urinary tract disease (τ = 98.16%; κ = 0.95) were detected, and differential or alternative diagnosis was performed (τ = 98.87% κ = 0.95). MBIR allowed a dose reduction of 84% versus standard-dose ASIR 50% (mean volume CT dose index, 1.7 mGy ± 0.8 [standard deviation] vs 10.9 mGy ± 4.6; mean size-specific dose estimate, 2.2 mGy ± 0.7 vs 13.7 mGy ± 3.9; P < .001) without a conspicuous deterioration in image quality (reduced-dose MBIR vs ASIR 50% mean scores, 3.83 ± 0.49 vs 3.92 ± 0.27, respectively; P = .32) or increase in noise (reduced-dose MBIR vs ASIR 50% mean, respectively, 18.36 HU ± 2.53 vs 17.40 HU 6 3.42). Its main drawback remains the long time required for reconstruction (mean, 40 minutes). Conclusion: A reduced-dose protocol with MBIR allowed a dose reduction of 84% without increasing noise and without an conspicuous deterioration in image quality in patients suspected of having renal colic. © RSNA, 2015.
PubMed | Center Hospitalier University Gabriel Montpied
Type: Comparative Study | Journal: AJR. American journal of roentgenology | Year: 2012
The purpose of this research was to assess the feasibility and performance of an unenhanced 3D balanced steady-state free precession (SSFP) sequence, compared with contrast-enhanced MR angiography (CEMRA), which is the reference standard to detect and quantify renal artery stenoses (RAS).Fifty-one patients were included in this prospective study. Balanced SSFP sequence (Native) and CEMRA were performed using a 1.5-T magnet. Signal quality and stenosis grade were assessed per segment for renal arteries and for ostia of celiac trunk and superior mesenteric artery (SMA). We compared signal quality of Native and CEMRA. Sensitivity, specificity, negative predictive value (NPV), and accuracy were also calculated.Evaluation involved 114 renal arteries, 51 celiac trunks, and 51 SMAs. By use of CEMRA, 20 significant stenoses were found for renal arteries, 10 stenoses and three occlusions for celiac trunk, and three stenoses for SMA. At artery-by-artery analysis, sensitivity, specificity, accuracy, and NPV of the balanced SSFP sequence in detecting stenosis were respectively 85%, 96%, 94%, and 96% for renal arteries; 100%, 97%, 98%, and 100% for celiac trunk; and 100%, 100%, 100%, and 100% for SMA. No significant difference of signal quality was found for the entire examination and for the different segments evaluated except for hilar and intrarenal branches, which showed better signal quality on balanced SSFP sequence.The NPV results in our study suggest that unenhanced balanced SSFP MR angiography can be the first-choice imaging method to exclude RAS in patients at high risk of nephrogenic systemic fibrosis. However, when stenosis is found, other imaging modalities are necessary for better estimation.
PubMed | Center hospitalier University Gabriel Montpied
Type: Case Reports | Journal: La Revue de medecine interne | Year: 2013
Most of recurrent pericarditis are idiopathic and only 15 to 20% have a specific diagnosis. Primary pericardial mesothelioma is a rare cause of recurrent pericarditis. Diagnosis can be challenging and antedates patients death in only 10 to 20% of cases. Histology of mesothelioma and immunohistochemistry are mandatory for the diagnosis. Median of survival before using pemetrexed was about 6 months after diagnosis.We report the history of a 64-year-old woman for which repeated biopsy for recurrent pericarditis was necessary to diagnose a primary pericardial mesothelioma. The first biopsy had only found mesothelial hyperplasia.This case report highlights the necessity of repeat pericardial biopsy in the case of adverse outcome.
PubMed | Brest University Hospital Center and Center Hospitalier University Gabriel Montpied
Type: Journal Article | Journal: Arthritis research & therapy | Year: 2016
Increasing vascular endothelial growth factor (VEGF) has been reported in remitting symmetrical seronegative synovitis with pitting edema (RS3PE) syndrome, rheumatoid arthritis (RA), polymyalgia rheumatica (PMR) and giant cell arteritis (GCA). The aim of this study was to compare VEGF levels in patients over 60years of age who have RS3PE, RA, PMR or GCA so as to determine whether elevated VEGF is specific for a rheumatic disease, the inflammation or edema that occurs with these pathological conditions.In this retrospective, multicentric study we assessed serum and plasma levels of VEGF in patients over 60years of age with rheumatic diseases that were either de novo or of recent onset according to the initial clinical presentation, and we compared these patients with a control group.Serum and plasma VEGF levels were determined in 80 patients (5 with RS3PE, 13 with RA, 44 with PMR, and 18 with GCA) and 37 controls. Edema occurred in five patients with RS3PE, four with RA, and one with PMR, but not patients with GCA. Serum VEGF levels were significantly higher in individuals with rheumatic diseases (849 (405.5-1235.5) pg/ml) relative to the controls (484 (302-555) pg/ml) (p<0.001). There were no significant differences between patients with RS3PE, RA, PMR, or GCA in terms of the VEGF serum levels (p=0.60) or plasma levels (p=0.57). Similarly, the occurrence of edema did not correlate with VEGF levels.VEGF increases in rheumatic diseases compared to a control group. This was not associated with specific rheumatic diseases or with edematous rheumatic diseases.