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N Ene

Publications and source records attributed to N Ene.

10 recordsLinked to original sources
PubMed2003

[Difficult diagnosis of fever of unknown origin related to an infraclinic liposarcoma: "small tumor and fever of unknown origin"].

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.

Breast Neoplasms↗
PubMed2003

[Heterozygous prothrombin gene mutation G20210A and associated diseases].

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.

Adult↗
PubMed2003

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.

The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.

Adult↗
PubMed2001

[Is chronic or recurrent idiopathic pericarditis an autonomous inflammatory disease?].

PURPOSE: Chronic pericarditis or recurrent pericarditis is mostly considered to be idiopathic even when up-to-date medical investigations are undertaken. The absence of aetiology and the associated inflammatory process are features of a common disease for internists. As there are only a few published reports on this disease, therapeutic options are not easily envisaged. CURRENT KNOWLEDGE AND KEY POINTS: Idiopathic pericarditis and its evolution, characterized by recurrence or chronicity, has long been diagnosed and studied. Faced with a case of acute pericarditis, no clinical or biological data can preclude evolution towards a chronic or a recurrent form. The two major complications are tamponade and constriction. Classical treatment is aspirin and nonsteroidal anti-inflammatories. Steroids have a spectacular effect but steroid dependence is frequently observed. Colchicine treatment seems to be efficacious and can be used to stop steroid therapy. There are only a few published reports on the importance of immunosuppressive drugs such as azathioprine and cyclophosphamide. FUTURE PROSPECTS AND PROJECTS: Through our own experience and literature review, we propose to consider chronic and/or recurrent pericarditis as an autonomous inflammatory disease of the pericardium. Thus, large-scale studies concerning the treatment should improve the outcome of patients.

Adrenal Cortex Hormones↗