Martel C.,Grenoble University Hospital Center |
Mollin M.,Grenoble University Hospital Center |
Beaumel S.,Grenoble University Hospital Center |
Brion J.P.,Grenoble University Hospital Center |
And 37 more authors.
Journal of Clinical Immunology | Year: 2012
Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families. Twenty-one mutations in CYBB were classified as X910, X91+ or X91- variants according to cytochrome b558 expression. Point mutations in encoding regions represented 50 % of the mutations found in CYBB, splice site mutations 27 %, deletions and insertions 23 %. Eight mutations in CYBB were novel leading to X910CGD cases. Two of these were point mutations: c493G>T and a double mutation c625C>G in exon 6 and c1510C>T in exon 12 leading to a premature stop codon at Gly165 in gp91phox and missense mutations His209Arg/Thr503Ile respectively. Two novel splice mutations in 5′intronic regions of introns 1 and 6 were found. A novel deletion/insertion c1024-1026delCTG/insT results in a frameshift introducing a stop codon at position 346 in gp91phox. The last novel mutation was the insertion of a T at c1373 leading to a frameshift and a premature stop codon at position 484 in gp91phox. For the first time the precise size of two large mutations in CYBB was determined by array-comparative genomic hybridization and carriers' status were evaluated by multiplex ligation-dependent probe amplification assay. No clear correlation between clinical severity and CYBB mutations could be established. Of three mutations in CYBA, NCF1 and NCF2 leading to rare autosomal recessive CGD, one nonsense mutation c29G>A in exon 1 of NCF2 was new. © Springer Science+Business Media, LLC 2012.
“The psychological evaluation” in a chronic clinical pain: a new figure of paradoxality? [« L’évaluation psychologique » en structure d’évaluation et traitement de la douleur chronique : une nouvelle figure de la paradoxalité ?]
Minjard R.,University Lumiere Lyon 2 |
Castagnet C.,Groupement Hospitalier Est Of Lyon |
Heritier S.,Center Hospitalier Of Voiron |
Moyenin C.,Center Hospitalier Of Bourg En Bresse
Douleur et Analgesie | Year: 2016
Through a definition of psychodynamic psychological assessment in clinic pain, the authors reveal paradoxical points at work between patients and the expression of their chronic pain, the position of clinical psychologist and his evaluation, and psychic temporality of the subject along with the order of the French High Authority of Health and its logic of profitability. This will not only highlight these stumbling blocks, but also attempt to unravel issues in order to show the emergence of an additional paradoxality written in the patient’s relation to himself. © 2016, Lavoisier.
Mick G.,Center Hospitalier Of Voiron |
Guastella V.,CHU de Clermont Ferrand
Chronic Postsurgical Pain | Year: 2014
Primum non nocere The fact that a surgical procedure can leave any kind of pain casts a shadow over this tenet, which is seen as the basis of medical practice and anchor of its principle ethic It is all the more surprising in that medicine has only paid attention to this paradoxical chronic pain situation for the past few years. Clarifying the knowledge acquired in this field has become all the more urgent for any care-giver today confronted by a legitimate request from patients: Why and how can a surgical procedure, which is supposed to bring relief, leave behind an unacceptable sequela?. This is the approach which the contributors to this new subject of major clinical interest invite you to follow as you work your way through this book. © 2014 Springer International Publishing Switzerland. All rights reserved.
Proposal of key elements in the therapeutic education of a patient suffering with neuropathic pain [Proposition d'éléments clés pour l'éducation thérapeutique du patient souffrant d'une douleur neuropathique]
Gillet D.,Center Hospitalier Of Voiron |
Pautonnier C.,Center Hospitalier |
De Diego E.,Groupe Hospitalier Sud Reunion |
Mick G.,Center Hospitalier Of Voiron
Douleur et Analgesie | Year: 2011
Given that there is barely any literature concerning TEP in the field of neuropathic pain, based on our clinical experience and after analysing the most recent systematic reviews, we are proposing research avenues to develop content for TEP specifically for patients presenting with neuropathic pain, and whose situation appears to lend itself to taking this additional approach to conventional care, in particular the existence of iatrogenic risk factors. These proposals will have to be discussed by other teams managing this type of patient, elaborated and improved upon, after which the implementation of specific actions or programmes is subject to validation. © 2011 Médecine et Hygiène et Springer-Verlag France.
Use of procalcitonine in Intensive Care Units: Comparison of semi quantitative PCT-Q Brahms assay with automated PCT-Kryptor assay [Utilisation au quotidien de la procalcitonine dans un service de soins intensifs : Comparaison de la technique semi-quantitative PCT-Q Brahms à celle automatisée PCT-Kryptor]
Schuch G.,Laboratoire Of Biologie Medicale |
Duc-Marchand C.,Center Hospitalier Of Voiron |
Venet C.,Center Hospitalier Of Voiron |
Mann H.,Center Hospitalier Of Voiron |
And 2 more authors.
Annales de Biologie Clinique | Year: 2011
Procalcitonine (PCT) is recognized as a major and specific biomarker in diagnosis of bacterial infection. Used early in sepsis, it allows immediate administration of antibiotics and monitoring its effectiveness. Confronted on systemic inflammation response syndrom (SIRS), physicians must react quickly and effectively to evaluate bacterial infection and sepsis. The objective of this study was to compare analytical and clinical performances of semiquantitative PCT-Q assay (Brahms) with quantitative and automated assay such on Kryptor (Brahms). Fifty blood samples of intensive care patients were compared. The analytical performance observed with PCT-Q assay is accurate: linear ratio kappa of 0.912 (95% CI 0.61, 0.97) and a good correlation between these techniques (p<0.0001) (MedCalc software) were observed. Three discordances were observed and confirm the difficulties of reading for values close to 0.5 ng/mL. For these patients, PCT result showed its interest to discriminate local infection of a sepsis, to stop antibiotherapy with broad spectrum and to consolidate a therapeutic effectiveness in multi-visceral failure context. The semi-quantitative assay seems adapted for a fast and reliable evaluation of PCT in a general-purpose laboratory, not requiring neither dedicated analyzer, nor complex technicality but a control of the visual evaluation of results. It could be used for diagnosis of sepsis without monitoring precisely therapeutic follow-up.
Lafeuillade B.,Etablissement francais du sang Rhone Alpes |
Tixier A.,Center Hospitalier Of Voiron |
Bliem C.,Etablissement francais du sang Rhone Alpes |
Meyer F.,Etablissement francais du sang Rhone Alpes
Transfusion Clinique et Biologique | Year: 2014
Access to blood components is required for healthcare establishments, particularly for emergency situation and hospital blood bank was often a response to this requirement. However, the complexity of regulation and economic pressures lead healthcare establishment to review regularly their need for a blood bank. This assessment requires analysis of need for transfusions in terms of delay, quantity and clinical situations to which they must respond. When a blood bank is required, three kinds could be under consideration: emergency blood bank, intermediate blood bank and issuance blood bank. According to requirements, advantages and disadvantages of each kind, healthcare establishments would select the most suitable one. © 2014 Elsevier Masson SAS.
PubMed | Center Hospitalier Of Voiron
Type: | Journal: Soins. Gerontologie | Year: 2012
Physical activity is a source of stimulation on a cognitive, psychological and social level. It enables elderly people to become more autonomous and reduce the level of dependency. Choosing adapted physical activities in a nursing home thereby forms part of the therapeutic approach.