Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis

in European Journal of Endocrinology (2011)

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR ... [more ▼]

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CaSR function. Patients and Methods: A 16 yr-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia (FHH) was originally excluded. The second patient was a 54 yr-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CaSR gene was sequenced in both probands and their available first-degree relatives. Results: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. Conclusions: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management. [less ▲]

La chirurgie oncoplastique du sein.

in Revue Médicale de Liège (2011), 66(5-6), 341-50

Oncoplastic surgery combines large lumpectomy and defect remodeling by different plastic surgery methods. These procedures improve the cosmetic result after partial mastectomy and widens the possibilities ... [more ▼]

Oncoplastic surgery combines large lumpectomy and defect remodeling by different plastic surgery methods. These procedures improve the cosmetic result after partial mastectomy and widens the possibilities for conservative treatment. Different techniques are used from simple glandular remodeling to more difficult techniques for breast plasties with or without simultaneous controlateral symetrisation procedure. The surgical option depends especially on the ratio between the volume of the tumor and the volume of the breast and the position of the tumor. This more effective conservative treatment facilitates also postoperative radiotherapy, reduces the sequellae and the psychological impact of breast cancer treatment. [less ▲]

Le cancer du sein chez la femme jeune

in Revue Médicale de Liège (2011), 66(5-6), 397-399

Chimiothérapie et cancer du sein

in Revue Médicale de Liège (2011), 66(5-6), 372-378

Deux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

Scarless cholecystectomy: laparoscopic surgery by unique umbilical incision

in Revue Médicale de Liège (2010), 65(10), 543-4

ANTICORPS MONOCLONAUX ET CANCER DU SEIN: Actualités thérapeutiques

in Revue Médicale de Liège (2009), 64(5-6), 279-83

About 9,500 new breast cancers are diagnosed in Belgium every year. Improvement of our knowledge of altered molecular events leading to the proliferation of tumor cells has resulted in the development of ... [more ▼]

About 9,500 new breast cancers are diagnosed in Belgium every year. Improvement of our knowledge of altered molecular events leading to the proliferation of tumor cells has resulted in the development of targeted therapies in subgroups of cancers. One of the first validation of targeted therapy is the anti-HER-2 monoclonal antibody trastuzumab (Herceptin) in patients with overexpression of human epidermal growth factor receptor type 2 (HER2) occurring in 20 to 25% of invasive breast carcinoma. Trastuzumab binds the extracellular juxtamembrane domain and is only active in tumor with HER2 gene amplification detected by fluorescence in situ hybridization (FISH). The results from randomized trials have rapidly lead to the approvement of the drug in the metastatic and then in the adjuvant setting. Another targeted therapy, also approved in the treatment of breast cancer, is the monoclonal antibody bevacizumab with an anti-VEGF (Vascular Endothelial Growth Factor) activity. We will review the benefit of these targeted therapies in breast cancer and their role in the treatment of breast cancer. [less ▲]

Effects of oral preoperative carbohydrate on early postoperative outcome after thyroidectomy

in Acta Anaesthesiologica Belgica (2009), 60(2), 67-73

Hyperaldostéronisme primaire: une cause fréquente et méconnue d'hypertension artérielle. Comment la diagnistiquer?

Conference given outside the academic context (2006)

Comment j'explore ... l'hypertension artérielle par excès de minéralocorticoides

in Revue Médicale de Liège (2005), 60(4), 255-63

Primary aldosteronism is a rare cause of hypertension. However, its incidence seems to be underestimated. It is important to identify this syndrom since the disease is potentially curable. In the present ... [more ▼]

Primary aldosteronism is a rare cause of hypertension. However, its incidence seems to be underestimated. It is important to identify this syndrom since the disease is potentially curable. In the present paper, we depict different forms of primary aldosteronism as well as the diagnostic procedures. When the diagnosis is suspected (hypertension associated to spontaneous or diuretic-induced hypokaliemia), the more efficient screening test is the determination of the aldosteron/renin ratio. Saline infusion or posture tests can thereafter confirm the diagnosis. Differential diagnosis between bilateral and unilateral forms of primary aldosteronism can be made by CT-scanner and the response of aldosterone to the posture test. Such a complex assessment leads to the identification of patients who can be surgically treated. This treatment consists in a unilateral adrenalectomy which can be realised by laparoscopy. [less ▲]