Search

Your search keyword '"Service de Biochimie [Bicêtre]"' showing total 6 results
Start Over Author "Service de Biochimie [Bicêtre]" Topic medicine.disease
6 results on '"Service de Biochimie [Bicêtre]"'

1. Mutation in the AGK gene in two siblings with unusual Sengers syndrome

Author

Catherine Sarret, Sanae Allali, Abdelhamid Slama, Odile Boespflug-Tanguy, Simon Samaan, Charlène Rambaud, Imen Dorboz, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochemistry Laboratory, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Service de neurologie pédiatrique et maladies métaboliques, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), INSERM U931, Clermont Ferrand, France, Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Pascal - Clermont Auvergne (IP), and Sigma CLERMONT (Sigma CLERMONT)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Cardiomyopathy, Exercise intolerance, Biology, Biochemistry, Cataract, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, Internal medicine, medicine, Humans, Child, Myopathy, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Siblings, Metabolic disorder, medicine.disease, Hypotonia, Phosphotransferases (Alcohol Group Acceptor), Phenotype, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Lactic acidosis, Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, Cardiomyopathies, Acylglycerol kinase
Abstract

Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome. Our patients presented an intermediate form with intellectual deficiency, an unusual feature in Sengers syndrome. This permitted a prenatal diagnosis for a following pregnancy.

Published
2017
Full Text
View/download PDF

2. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Author

Emmanuelle Lacène, Mylène Gilleron, Manuel Schiff, Joao A. Paulo, Eric S. Goetzman, Virginia Guarani, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Anne Lombès, Clémence Labasse, J. Wade Harper, P. Rustin, Norma B. Romero, Apolline Imbard, Abdelhamid Slama, Pauline Gaignard, Dominique Chrétien, Agnès Bourillon, Paule Bénit, Jean-François Benoist, Imen Dorboz, Claude Jardel, Department of Cell Biology [Boston, MA, USA], Harvard Medical School [Boston] (HMS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie-hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Department of Pediatrics [Pittsburgh, USA], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE)-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de Radiologie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Reference Center for Inborn Errors of Metabolism [AP-HP Hôpital Robert Debré], Bos, Mireille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Harvard Medical School - HMS [Boston, USA], Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Promoting Research Oriented Towards Early Cns Therapies ( PROTECT ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), University of Pittsburgh School of Medicine [USA]-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], and Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre

Subjects
0301 basic medicine, Male, Respiratory chain, Biology (General), Genetics, MICOS complex, biology, General Neuroscience, Liver Diseases, General Medicine, Null allele, Cell biology, MICOS, mitochondrial disease, Medicine, Female, 3-methylglutaconic aciduria, liver disease, Human, QH301-705.5, Mitochondrial disease, Protein subunit, Science, Microbial Sensitivity Tests, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial Encephalomyopathies, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Cytochrome c oxidase, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Human Biology and Medicine, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, General Immunology and Microbiology, Siblings, Infant, Newborn, Membrane Proteins, Cell Biology, medicine.disease, QIL1, 030104 developmental biology, Mutation, biology.protein, early-onset fatal mitochondrial encephalopathy, Cristae formation, Research Advance
Abstract

Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 2015). Here, we identify QIL1 null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. QIL1 absence in patients’ fibroblasts was associated with MICOS disassembly, abnormal cristae, mild cytochrome c oxidase defect, and sensitivity to glucose withdrawal. QIL1 expression rescued cristae defects, and promoted re-accumulation of MICOS subunits to facilitate MICOS assembly. MICOS assembly and cristae morphology were not efficiently rescued by over-expression of other MICOS subunits in patient fibroblasts. Taken together, these data provide the first evidence of altered MICOS assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable MICOS complex formation.

Published
2016
Full Text
View/download PDF

3. Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells : Mitotane-induced cytochrome c oxidase defect

Author

Jacques Young, Larbi Amazit, Angelo Paci, Marc Lombès, Ségolène Hescot, Rita Chadarevian, Anne Lombès, Eric Baudin, Sophie Leboulleux, Hervé Remy, Abdelhamid Slama, Séverine Trabado, Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Gustave Roussy (IGR), Laboratoire HRA-Pharma (HRA), HRA Pharma France, Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service d'endocrinologie, Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), This work was supported by the Institut National de la Santé et de la Recherche Médicale (INSERM), Faculté de Médecine Paris-Sud, and a grant from HRA Pharma Laboratories. SH was recipient of a fellowship from the French Endocrine Society (SFE, Société Française d'Endocrinologie)., Hôpital Bicêtre-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Sud - Paris 11 (UP11) - IFR93 - Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11) - Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Bicêtre, Institut Cochin (UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), and Institut Gustave Roussy (IGR) - Institut Gustave Roussy (IGR)

Subjects
mitotane, Cancer Research, medicine.medical_specialty, Adrenocortical carcinoma, Antineoplastic Agents, Hormonal, Hydrocortisone, Endocrinology, Diabetes and Metabolism, p'-DDD, Respiratory chain, Mitochondrion, Biology, DNA, Mitochondrial, Cell Line, Electron Transport, Electron Transport Complex IV, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, cytochrome c oxidase, medicine, Humans, Cytochrome c oxidase, Mitotane, Steroid 11-beta-hydroxylase, 030304 developmental biology, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 0303 health sciences, 17-alpha-Hydroxyprogesterone, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, mitochondria, Mitochondrial respiratory chain, Oncology, Mitochondrial biogenesis, 030220 oncology & carcinogenesis, Adrenal Cortex, biology.protein, medicine.drug
Abstract

Mitotane, 1,1-dichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane is the most effective medical therapy for adrenocortical carcinoma, but its molecular mechanism of action remains poorly understood. Although mitotane is known to have mitochondrial (mt) effects, a direct link to mt dysfunction has never been established. We examined the functional consequences of mitotane exposure on proliferation, steroidogenesis, and mt respiratory chain, biogenesis and morphology, in two human adrenocortical cell lines, the steroid-secreting H295R line and the non-secreting SW13 line. Mitotane inhibited cell proliferation in a dose- and a time-dependent manner. At the concentration of 50 μM (14 mg/l), which corresponds to the threshold for therapeutic efficacy, mitotane drastically reduced cortisol and 17-hydroxyprogesterone secretions by 70%. This was accompanied by significant decreases in the expression of genes encoding mt proteins involved in steroidogenesis (STAR, CYP11B1, and CYP11B2). In both H295R and SW13 cells, 50 μM mitotane significantly inhibited (50%) the maximum velocity of the activity of the respiratory chain complex IV (cytochrome c oxidase (COX)). This effect was associated with a drastic reduction in steady-state levels of the whole COX complex as revealed by blue native PAGE and reduced mRNA expression of both mtDNA-encoded COX2 (MT-CO2) and nuclear DNA-encoded COX4 (COX4I1) subunits. In contrast, the activity and expression of respiratory chain complexes II and III were unaffected by mitotane treatment. Lastly, mitotane exposure enhanced mt biogenesis (increase in mtDNA content and PGC1α (PPARGC1A) expression) and triggered fragmentation of the mt network. Altogether, our results provide first evidence that mitotane induced a mt respiratory chain defect in human adrenocortical cells.

Published
2014

4. Increased susceptibility to liver fibrosis with age is correlated with an altered inflammatory response

Author

Meriem Mahrouf-Yorgov, Claudine Cosson, Elsa Abdoun, Bernard Fromenty, Claudia Mitchell, Alexandra Collin de l'Hortet, Hélène Gilgenkrantz, Jacques-Emmanuel Guidotti, Abdelhamid Slama, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Hépatotoxicité et xénobiotiques, Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre

Subjects
MESH : Oxidative Stress, MESH: Inflammation, Liver Cirrhosis, Male, Aging, Necrosis, MESH : Carbon Tetrachloride, MESH : Hepatocytes, medicine.disease_cause, Liver disorder, MESH: Hepatocytes, Mice, 0302 clinical medicine, MESH : Chronic Disease, Fibrosis, MESH : Cell Proliferation, MESH: Aging, MESH: Animals, Carbon Tetrachloride, 0303 health sciences, MESH: Oxidative Stress, 3. Good health, medicine.anatomical_structure, Hepatocyte, [ SDV.MHEP.HEG ] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, 030211 gastroenterology & hepatology, Disease Susceptibility, medicine.symptom, MESH: Liver Cirrhosis, MESH : Male, Hepatitis C virus, MESH: Disease Susceptibility, Context (language use), Inflammation, MESH : Mice, Inbred C57BL, Biology, MESH : Disease Susceptibility, 03 medical and health sciences, MESH: Mice, Inbred C57BL, MESH: Cell Proliferation, MESH : Mice, medicine, MESH : Liver Cirrhosis, Animals, Humans, MESH: Mice, 030304 developmental biology, Cell Proliferation, MESH: Necrosis, MESH : Inflammation, MESH: Humans, MESH: Carbon Tetrachloride, MESH: Chronic Disease, MESH : Humans, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, medicine.disease, MESH : Aging, MESH: Male, MESH : Necrosis, Mice, Inbred C57BL, Oxidative Stress, Immunology, Chronic Disease, Hepatocytes, MESH : Animals, Geriatrics and Gerontology, Oxidative stress
Abstract

International audience; It has been suggested that increasing age is correlated with an acceleration of the progression of liver fibrosis induced by various agents, such as hepatitis C virus or chronic alcohol consumption. However, the cellular and molecular changes underlying this predisposition are not entirely understood. In the context of an aging population, it becomes challenging to decipher the mechanisms responsible for this higher susceptibility of older individuals to this acquired liver disorder. To address this issue, we induced liver fibrosis by carbon tetrachloride (CCl(4)) chronic administration to 8-week- and 15-month-old mice. We confirmed that susceptibility to fibrosis development increased with age and showed that aging did not affect fibrosis resolution capacity. We then focused on the impairment of hepatocyte proliferation, oxidative stress, and inflammation as potential mechanisms accelerating the development of fibrosis in the elderly. We detected no inhibition of hepatocyte proliferation after CCl(4) injury in 15-month-old mice, whereas it was inhibited after a partial hepatectomy. Finally, we observed that, in a context in which liver oxidative stress was not differentially increased in both experimental groups, there was a higher recruitment of inflammatory cells, including mostly macrophages and lymphocytes, oriented toward a T helper 2 (T(H)2) response in older mice. Our data show that in conditions of equivalent levels of oxidative stress and maintained hepatocyte proliferative capacity, an increased inflammatory reaction mainly composed of CD4(+) lymphocytes and macrophages expressing T(H)2 cytokines is the main factor involved in the higher susceptibility to fibrosis with increasing age.

Published
2011
Full Text
View/download PDF

5. High-sensitivity versus conventional troponin in the emergency department for the diagnosis of acute myocardial infarction

Author

Bruno Riou, Patrick Ray, Pascale Bonnet, François Leumani, Yann-Erick Claessens, Camille Chenevier-Gobeaux, Yonathan Freund, Claudine Cosson, Benoit Doumenc, J.-C. Allo, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine d'urgence [CHU Cochin], Service des urgences, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Bichat, Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Génétique, pharmacologie et physiopathologie des maladies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service des urgences et chirurgie, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Bichat, Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and BMC, Ed.

Subjects
Adult, Male, medicine.medical_specialty, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Myocardial Infarction, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, Chest pain, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Troponin I, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Prospective Studies, 030212 general & internal medicine, Myocardial infarction, cardiovascular diseases, Aged, Aged, 80 and over, biology, Troponin T, [ SDV.MHEP.PHY ] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], business.industry, Research, Middle Aged, medicine.disease, Troponin, Confidence interval, 3. Good health, Surgery, Pre- and post-test probability, biology.protein, Cardiology, Female, Myocardial infarction diagnosis, medicine.symptom, Emergency Service, Hospital, business, Biomarkers
Abstract

International audience; INTRODUCTION: Recently, newer assays for cardiac troponin (cTn) have been developed which are able to detect changes in concentration of the biomarker at or below the 99th percentile for a normal population. The objective of this study was to compare the diagnostic performance of a new high-sensitivity troponin T (HsTnT) assay to that of conventional cTnI for the diagnosis of acute myocardial infarction (AMI) according to pretest probability (PTP). METHODS: In consecutive patients who presented to our emergency departments with chest pain suggestive of AMI, levels of HsTnT were measured at presentation, blinded to the emergency physicians, who were asked to estimate the empirical PTP of AMI. The discharge diagnosis was adjudicated by two independent experts on the basis of all available data. RESULTS: A total of 317 patients were included, comprising 149 (47%) who were considered to have low PTP, 109 (34%) who were considered to have moderate PTP and 59 (19%) who were considered to have high PTP. AMI was confirmed in 45 patients (14%), 22 (9%) of whom were considered to have low to moderate PTP and 23 (39%) of whom were considered to have high PTP (P < 0.001). In the low to moderate PTP group, HsTnT levels ≥ 0.014 μg/L identified AMI with a higher sensitivity than cTnI (91%, 95% confidence interval (95% CI) 79 to 100, vs. 77% (95% CI 60 to 95); P = 0.001), but the negative predictive value was not different (99% (95% CI 98 to 100) vs. 98% (95% CI 96 to 100)). There was no difference in area under the receiver operating characteristic (ROC) curve between HsTnT and cTnI (0.93 (95% CI 0.90 to 0.98) vs. 0.94 (95% CI 0.88 to 0.97), respectively). CONCLUSIONS: In patients with low to moderate PTP of AMI, HsTnT is slightly more useful than cTnI. Our results confirm that the use of HsTnT has a higher sensitivity than conventional cTnI.

Published
2011
Full Text
View/download PDF

6. Physiological partial aldosterone resistance in human newborns.: Aldosterone resistance at birth

Author

Claudine Cosson, Eric Pussard, Laetitia Martinerie, François Petit, Laurence Foix-L’Hélias, Pascal Boileau, Marc Lombès, Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de Pédiatrie et Réanimations néonatales [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie-hormonologie [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, and Service d'Endocrinologie et Maladies de la reproduction

Subjects
Hyperkalemia, MESH: Renin, Renin-Angiotensin System, chemistry.chemical_compound, 0302 clinical medicine, MESH: Renin-Angiotensin System, Renin, MESH: Sodium, Prospective Studies, Aldosterone, 0303 health sciences, MESH: Middle Aged, MESH: Infant, Newborn, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, Water-Electrolyte Balance, Hyperaldosteronism, MESH: Hyperaldosteronism, MESH: Young Adult, Female, medicine.symptom, Hyponatremia, Adult, medicine.medical_specialty, Adolescent, medicine.drug_class, Sodium, chemistry.chemical_element, 030209 endocrinology & metabolism, Article, 03 medical and health sciences, Young Adult, Internal medicine, Mineralocorticoids, Renin–angiotensin system, medicine, Humans, 030304 developmental biology, MESH: Adolescent, MESH: Humans, business.industry, Infant, Newborn, MESH: Aldosterone, MESH: Adult, medicine.disease, MESH: Prospective Studies, Endocrinology, chemistry, MESH: Mineralocorticoids, Mineralocorticoid, Pediatrics, Perinatology and Child Health, MESH: Potassium, MESH: Water-Electrolyte Balance, Potassium, business, MESH: Female, Homeostasis
Abstract

International audience; In the neonatal period, the human kidney is characterized by an impaired ability to regulate water and sodium homeostasis, resembling partial aldosterone resistance. The aim of our study was to assess this hormonal insensitivity in newborn infants and to determine its relationship with neonatal sodium handling. We conducted a prospective study in 48 healthy newborns and their mothers. Aldosterone, renin, and electrolyte concentrations were measured in umbilical cords and in maternal plasma. Urinary aldosterone concentrations and sodium excretion were determined at urination within 24 h after birth. A significant difference was observed between aldosterone and renin levels in newborn infants compared with their mothers (817 +/- 73 versus 575 +/- 55 pg/mL and 79 +/- 10 versus 15 +/- 2 pg/mL, respectively, p < 0.001). This hyperactivation of the renin-angiotensin-aldosterone system was associated with hyponatremia and hyperkalemia in the newborn infants, and high urinary sodium loss, consistent with a partial aldosterone resistance at birth. Unlike plasma aldosterone, urinary aldosterone concentration was found highly correlated with plasma potassium concentrations, thus representing the best index for accurate evaluation of mineralocorticoid sensitivity. Our study represents a comprehensive characterization of the renin-aldosterone axis in newborn infants and provides evidence for physiologic partial aldosterone resistance in the neonatal period.

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results