Persu A.,Catholic University of Louvain |
Lannoy N.,Catholic University of Louvain |
Maiter D.,Catholic University of Louvain |
Mendola A.,Catholic University of Louvain |
And 6 more authors.
Hormone and Metabolic Research | Year: 2012
Since the early 2000s, the prevalence and spectrum of mutations in genes encoding subunits of succinate dehydrogenase (SDHx) were reported in large cohorts of patients with pheochromocytoma (PC) and paraganglioma (PGL) from most Western countries. Unfortunately, in Belgium, no equivalent work was performed thus far. Therefore, the aim of the work was to look for mutations in SDHx genes and genotype-phenotype correlations in patients with PC and/or PGL from Belgium. Screening of the coding parts of SDHx genes and deletion search were performed in all patients with PC and/or PGL referred to the Cliniques Universitaires Saint-Luc from 05/2003 to 05/2011. Genetic screening was performed in 59 unrelated head and neck (hn)PGLs (8 familial) and 53 PCs (7 extra-adrenal; 3 metastatic). In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 familial cases and 9 apparently sporadic cases. In the same subset, we found 8 different SDHB mutations (5 substitutions, 1 splice site mutation, 1 deletion, 1 duplication) in 10 patients with sporadic hnPGL without evidence of malignancy. No SDHx mutation was detected in patients harboring PCs and no SDHC mutation whatsoever. In conclusion, in our multicentric database of PC-PGLs from Belgium, (i) the prevalence of SDHx mutations was high in hnPGLs (44% in the whole subset, 37% of apparently sporadic cases); (ii) in sporadic cases, the prevalence of SDHB mutations was high (20%), similar to that of SDHD (18%); and (iii) no SDHx mutation was found in a subset of mostly adrenal, benign PCs. © Georg Thieme Verlag KG Stuttgart · New York.
Marival T.,Erasme University Hospital |
Carpentier S.,Mouscron Hospital |
Vandaele S.,Brugmann University Hospital |
De Fontaine S.,Erasme University Hospital
Annals of Plastic Surgery | Year: 2013
Blepharoplasty is a frequent request in consultations of plastic surgery. Patients are often presenting with a progressive swelling of the eyelids. For functional or aesthetic reasons, we commonly perform a superior and/or inferior blepharoplasty to correct this problem. We present the case of a 72-year-old woman who consulted us with a prominent unattractive swelling of both lower eyelids. Because of the atypical and suspicious presentation, supplementary examinations were conducted, and the fat was also sent for analysis. A diagnosis of unilateral orbital lymphoma was obtained. The patient was treated as a primarily localized lymphoma with a positive outcome. When correctly diagnosed and treated, orbital lymphomas can have a very good prognosis. Copyright © 2012 by Lippincott Williams & Wilkins.
Oriot P.,Mouscron Hospital |
Hermans M.P.,Endocrinology and Nutrition Unit Division |
Selvais P.,Mouscron Hospital |
Buysschaert M.,Endocrinology and Nutrition Unit Division |
de la Tribonniere X.,Lille University Hospital Center
Annales d'Endocrinologie | Year: 2011
The use of retroviral drugs in the treatment of infection by human immunodeficiency virus (HIV) is associated, especially for first generations, with side effects such as lipodystrophy, fatty liver and insulin resistance, which may trigger secondary diabetes or worsen existing diabetes. The use of Glucagon-Like Peptide-1 in obese patients with type 2 diabetes on HIV retroviral as an alternative to insulin therapy is not documented; we report the case of a 47-year-old treated with exenatide when insulin was discontinued. During the first year of treatment, exenatide, in combination with metformin and repaglinide, led to a weight loss of 14kg and fat mass and waist circumference were respectively reduced from 31 to 25.5% and from 114 to 103cm. Homeostatic model assessment (HOMA) was used to calculate β-cell secretion which increased from 50 to 78% and insulin sensitivity which increased from 28 to 51%, reflecting a decrease in HbA1c by 1.9%. Exenatide may be a new therapeutic option for HIV-infected type 2 diabetes patients undergoing retroviral therapy. © 2011 Elsevier Masson SAS.
Oriot P.,Mouscron Hospital |
Malvaux P.,Notre Dame Hospital |
Waignein F.,Notre Dame Hospital |
Delcourt A.,Mouscron Hospital |
And 4 more authors.
Annales d'Endocrinologie | Year: 2012
Riedel's thyroiditis appears in the form of a hard cervical mass with rapid onset, and it is associated with extensive fibrosis that compresses nearby structures, such as the trachea and supra-aortic vessels; its diagnosis is essentially histopathological. Although its histological characteristics have been well established, there are some diagnostic pitfalls. We report here the case of a 37-year-old woman, with clinical and histopathological data suggesting Riedel's disease. Fibrosis regressed after treatment with corticosteroids, relieving the compressed airways. However, in contrast with the latest knowledge on this disease, the IgG4 serum levels were consistently normal, and positron emission tomography in search of extensive fibrosis revealed an abnormal metabolic activity of the bone marrow. The final diagnosis revised by the histopathologist was that of nodular sclerosing Hodgkin's lymphoma. This case allows us to review the diagnostic approach when facing a thyroid mass with extremely rapid evolution. © 2012 Elsevier Masson SAS.