Delanaye P.,Service de Nephrologle dlalyse transplantation Renale |
Cavalier E.,Service de Chimie Medicale |
Maillard N.,Service de Nephrologie dlalyse transplantatlon Renale |
Krzesinski J.-M.,Service de Nephrologle dlalyse transplantation Renale |
And 3 more authors.
Annales de Biologie Clinique | Year: 2010
Serum creatinine is certainly one of the most prescribed biological parameters. In this review article, we remind some historical data regarding creatinine. Different methodologies to measure creatinine in blood and urine are deeply described. We also discuss the physiological reason for its use as a glomerular filtration rate marker. However, analytical and physiological limitations are described and discussed. Creatinine clearance usefulness is finally largely discussed. Source
Bargnoux A.-S.,Montpellier University Hospital Center |
Boutten A.,Service de biochimie |
Cambillau M.,Service de biochimie |
Carlier M.-C.,Federation de biochimie |
And 7 more authors.
Annales de Biologie Clinique | Year: 2011
In 2010, a working group from the French Society of Clinical Chemistry (Société française de biologie clinique - SFBC) and the French Society of Nephrologie (SN) make a proposal to up-date the guidelines for measuring plasma creatinine. Source
Poynard T.,University Pierre and Marie Curie |
Moussalli J.,University Pierre and Marie Curie |
Munteanu M.,BioPredictive |
Thabut D.,University Pierre and Marie Curie |
And 12 more authors.
Journal of Hepatology | Year: 2013
Background & Aims Chronic hepatitis C is both a virologic and fibrotic disease and complications can occur in patients with sustained virologic response (SVR) with residual fibrosis. Due to the limitations of repeated biopsies, no studies have assessed the dynamic of fibrosis before and after treatment. Using biopsy as reference, FibroTest™ has been validated as a biomarker of fibrosis progression and regression, with similar prognostic values. The aim was to estimate the impact of SVR on the dynamic of fibrosis presumed by FibroTest™. Methods In a prospective cohort, the main end point was the 10-year regression rate of fibrosis, defined as a minimum 0.20 decrease in FibroTest™, equivalent to one METAVIR stage. Results A total of 933 patients with both repeated FibroTest™ and transient elastography were included. At 10 years, among the 415 patients with baseline advanced fibrosis, 49% (95% CI 33-64%) of the 108 SVR had a regression, which was greater than in the 219 non-responders [23% (14-33%; p <0.001 vs. SVR)] and not lower than in the 88 non-treated [45% (10-80%; p = 0.39 vs. SVR)] patients. In all 171 SVR, cirrhosis regressed in 24/43 patients, but 15 new cirrhosis cases occurred out of 128 patients, that is only a net reduction of 5.3% [(24-15) = 9/171); (2.4-9.8%)]. Four cases of primary liver cancer occurred in SVR [4.6% (0-9.8)], and 13 in non-responders [5.6% (1.5-9.8); p = 0.07]. Conclusions In patients with chronic hepatitis C, and as presumed by FibroTest™, virological cure was associated with slow regression of fibrosis 10 years later, a disappointing 5% decrease in cirrhosis cases, and a remaining 5% risk of primary liver cancer. © 2013 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. Source
Congenital myasthenic syndromes: Difficulties in the diagnosis, course and prognosis, and therapy - The French national Congenital Myasthenic Syndrome network experience [Syndromes myasthéniques congénitaux: difficultés diagnostiques, évolution et pronostic, thérapeutique L'expérience du réseau national « Syndromes Myasthéniques Congénitaux »]
Eymard B.,Institute Of Myologie |
Stojkovic T.,Institute Of Myologie |
Sternberg D.,Service de Biochimie Metabolique |
Richard P.,Service de Biochimie Metabolique |
And 8 more authors.
Revue Neurologique | Year: 2013
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Networ: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to therapy, especially for CMS that do not respond to cholinesterase inhibitors. CMS diagnosis is late in most cases because of confusion with other entities such as: congenital myopathies, due to the frequent presentation in patients of myopathies such as permanent muscle weakness, atrophy and scoliosis, and the abnormalities of internal structure, diameter and distribution of fibers (type I predominance, type II atrophy) seen on biopsy; seronegative autoimmune myasthenia gravis, when CMS is of late onset; and metabolic myopathy, with the presence of lipidosis in muscle. The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK. Disease-course patterns (progressive worsening, exacerbation, stability, improvement) could be variable throughout life in a given patient. DOK7 patients had the most severe disease course with progressive worsening: of the eight wheelchair-bound and ventilated patients, six had mutations of this gene. Pregnancy was a frequent cause of exacerbation. Anticholinesterase agents are the first-line therapy for CMS patients, except for cases of slow-channel CMS, COLQ and DOK7. In our experience, 3,4-DAP was a useful complement for several patients harboring CMS with AChR loss or RAPSN gene mutations. Ephedrine was given to 18 patients (eight DOK7, five COLQ, four AGRN and one RAPSN). Tolerability was good. Therapeutic responses were encouraging even in the most severely affected patients, particularly with DOK7 and COLQ. Salbutamol was a good alternative in one patient who was allergic to ephedrine. © 2013 Elsevier Masson SAS. Source
Preisler N.,Copenhagen University |
Pradel A.,Service Central dExplorations Fonctionnelles Respiratoires |
Pradel A.,University Pierre and Marie Curie |
Husu E.,Copenhagen University |
And 9 more authors.
Molecular Genetics and Metabolism | Year: 2013
Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can experience exercise intolerance due to insufficient carbohydrate oxidation in skeletal muscle. Six patients aged 17-36-years were studied. We determined VO2peak (peak oxygen consumption), the response to forearm exercise, and the metabolic and cardiovascular responses to cycle exercise at 70% of VO2peak with either a saline or a glucose infusion. VO2peak was below normal. Glucose improved the work capacity by lowering the heart rate, and increasing the peak work rate by 30% (108W with glucose vs. 83W with placebo, p=0.018). The block in muscle glycogenolytic capacity, combined with the liver involvement caused exercise intolerance with dynamic skeletal muscle symptoms (excessive fatigue and muscle pain), and hypoglycemia in 4 subjects. In this study we combined anaerobic and aerobic exercise to systematically study skeletal muscle metabolism and exercise tolerance in patients with GSD IIIa. Exercise capacity was significantly reduced, and our results indicate that this was due to a block in muscle glycogenolytic capacity. Our findings suggest that the general classification of GSD III as a glycogenosis characterized by fixed symptoms related to muscle wasting should be modified to include dynamic exercise-related symptoms of muscle fatigue. A proportion of the skeletal muscle symptoms in GSD IIIa, i.e. weakness and fatigue, may be related to insufficient energy production in muscle. © 2012 Elsevier Inc. Source