Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome.
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Biomedical subjects
Publications and source records attributed to P-J Weiller.
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OBJECTIVES: To identify the prognostic markers of a bad outcome in a large population of 104 patients with prosthetic valve endocarditis (PVE), and to study the influence of medical versus surgical strategy on outcome in PVE and thus to identify patients for whom surgery may be beneficial. DESIGN: Multicentre study. METHODS AND RESULTS: Among 104 patients, 22 (21%) died in hospital. Factors associated with in-hospital death were severe co-morbidity (6% of survivors v 41% of those who died, p = 0.05), renal failure (28% v 45%, p = 0.05), moderate to severe regurgitation (22% v 54%, p = 0.006), staphylococcal infection (16% v 54%, p = 0.001), severe heart failure (22% v 64%, p = 0.001), and occurrence of any complication (60% v 90%, p = 0.05). By multivariate analysis, severe heart failure (odds ratio 5.5) and Staphylococcus aureus infection (odds ratio 6.1) were the only independent predictors of in-hospital death. Among 82 in-hospital survivors, 21 (26%) died during a 32 month follow up. A Cox proportional hazards model identified early PVE, co-morbidity, severe heart failure, staphylococcus infection, and new prosthetic dehiscence as independent predictors of long term mortality. Mortality was not significantly different between surgical and non-surgical patients (17% v 25%, respectively, not significant). However, both in-hospital and long term mortality were reduced by a surgical approach in high risk subgroups of patients with staphylococcal PVE and complicated PVE. CONCLUSIONS: Firstly, PVE not only carries a high in-hospital mortality risk but also is associated with high long term mortality and needs close follow up after the initial episode. Secondly, congestive heart failure, early PVE, staphylococcal infection, and complicated PVE are associated with a bad outcome. Thirdly, subgroups of patients could be identified for whom surgery is associated with a better outcome: patients with staphylococcal and complicated PVE. Early surgery is strongly recommended for these patients.
UNLABELLED: This observation recalls that gastric phytobezoar should lead to a search for an underlying disease and that a iron deficiency can be associated and hide macrocytosis related to a vitamin B12 deficiency. CASE REPORT: A 19 year-old woman consulted for asthenia. Microcyte anaemia associated with iron deficiency was diagnosed. Upper digestive endoscopy revealed severe, totally asymptomatic phytobezoar. Biological investigations revealed a vitamin B12 deficiency, high serum gastrin level and strong positivity for gastric antiparietal anti-cell antibodies, suggestive of an autoimmune gastritis. Total immunoglobulin A deficiency was also noted. DISCUSSION: Autoimmune gastritis is responsible for megaloblastic anaemia (vitamin B12 deficiency) but can also provoke microcytic (iron-deficiency) anaemia due to insufficient absorption of the latter and related to gastric achlorhydria. Phytobezoar might also be related to achlorhydria and/or gastroparesia associated with autoimmune gastritis. Hence, autoimmune gastritis should be searched for when confronted with unexplained gastric bezoar or iron-deficiency anaemia.
INTRODUCTION: Ictero-hemorrhagic leptospirosis is an endemic disease in France. Weil's disease, a form of leptospirosis, is well known. Fort Bragg fever is characterized by a constant pretibial papular lesion. First described in the USA, this non icteric form of leptospirosis is usually benign. We report the first French case of a mixed form of leptospirosis. EXEGESIS: A 52-year-old man living in South East France suffered from fever and myalgias associated with a pretibial papular lesion. A severe icterus appeared and permitted a diagnosis of leptospirosis. CONCLUSION: Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus.
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INTRODUCTION: Palpation of soft tissues constitutes part of the physical examination when faced with a patient with fever of unknown origin. Our case highlights the difficulty of diagnosis when the tumor still remains impalpable ten months after onset of fever and severe biological inflammatory process. EXEGESIS: A 49-year-old woman was admitted for fever of unknown origin associated with important biological inflammatory process. In view of her past medical history of breast carcinoma, a search for a relapse was performed and remained negative. Despite multiple investigations and repeated physical examinations, no diagnosis was obtained. Finally, [18F] fluorodoexyglucose positron emission tomography led to a diagnosis showing a high fixation located in the right thigh, related to a myxoid liposarcoma after surgical resection. CONCLUSION: Dramatic regression of fever and biological inflammatory process after surgical treatment illustrates the concept of "small tumor and fever of unknown origin", an exceptional entity but which physicians should be aware of. The role of new technical imaging with [18F] fluorodoexyglucose positron emission tomography has however to be clarified in the evaluation of fever of unknown origin.
PURPOSE: Prothrombin gene mutation G20210A (factor II) is, in frequency, the second genetic polymorphism involved in venous thrombosis. We report a retrospective studies on 38 patients issued from our medical department, all heterozygous for the factor II mutation and a literature review. METHODS: We have studied 38 patients, all heterozygous for the factor II mutation, selected through a population of 516 tested patients issued from our medical department from 1997 to 2002. The research was performed face with history of thrombotic or obstetrical events, angiopathy or familial screening. RESULTS: Twenty out of thirty-eight patients have at least one episode of venous thrombosis: superficial thromboses, deep thromboses and/or pulmonary embolism. One case of cerebral thrombophlebitis is observed. Venous thrombotic risk factors are associated in 12 cases (60%). Four out of thirty-eight patients have one episode of arterial thrombosis: cardiovascular, peripheral or cerebral. Arterial thrombotic risk factors are associated in all cases. Median age of the first venous thrombosis is earlier than the one of arterial thrombosis (39.11 versus 49.25 years). CONCLUSION: Our studies confirms the interest to search the prothrombin gene mutation when faced with a venous thrombotic event (deep vein thrombosis and/or pulmonary embolism) with or without acquired risk factors. Its involvement in thrombotic arterial disease is still a matter of debate. Data concerning its involvement in systemic diseases and angiopathies (thromboangeitis obliterans, Raynaud's phenomenon and migraine) are still needed. Mechanisms of thromboses could be an increase of prothrombin plasma level with high thrombin synthesis.
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