References of "Burlacu, M. C"
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See detailMutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
Livadariu, E.; Auriemma, R. S.; Rydlewski, C. et al

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 ▲]

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See detailAdénomes hypophysaires familiaux.
Burlacu, M. C.; Tichomirowa, M.; Daly, Adrian ULg et al

in Presse Médicale (2009), 38(1), 112-116

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known ... [more ▼]

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known condition in the category of familial isolated pituitary adenomas (FIPA). Familial adenomas account for 3-5% of all pituitary adenomas. Their pathogenesis is known in part: mutations of the menin gene in NEM1 (80%), of the CDKN1B gene in NEM4 (several cases described), of the PRKR1A gene in CNC (50%) and the AIP gene in 15% of FIPA cases (50% of the FIPA cases with a homogeneous somatotropic phenotype). The clinical course of familial adenoma with NEM1 or FIPA is more aggressive than that of sporadic adenoma, with more macroadenomas and more patients diagnosed younger. Familial pituitary adenomas are distinguished from the sporadic forms in their genetic, epidemiologic and clinical characteristics. They require a differentiated management, especially concerning screening. [less ▲]

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See detailLearning from recombinant GH treatment in obesity
Vandeva, S.; Rixhon, M.; Tichomirova, M. A. et al

in Obesity and Metabolism (2009), 5(3/4), 156-166

Obese and untreated growth hormone deficiency (GHD) patients have a number of similar clinical and biological abnormalities. Treatment with recombinant human growth hormone (rhGH) in GHD patients has ... [more ▼]

Obese and untreated growth hormone deficiency (GHD) patients have a number of similar clinical and biological abnormalities. Treatment with recombinant human growth hormone (rhGH) in GHD patients has proven effective in beneficially modulating body composition and certain cardiovascular risk factors, thus leading to the hypothesis that administration of rhGH in obese patients could show similar beneficial results. Hyperinsulinism and increased free fatty acid levels are the main factors causing reduced GH release in the setting of obesity. We reviewed the outcomes of 25 adult and paediatric clinical studies carried out in 1987-2009 that examined the effects of rhGH administration in the obese state. Body composition showed mainly a reduction in visceral abdominal fat, whereas total bodyweight increased or remained unchanged. Effects of rhGH on lipid and carbohydrate metabolic profiles in obese patients were heterogeneous. The increasing burden of obesity on one hand, the absence of definitive medical treatment on the other, give rise to grounds for considering rhGH as a possible therapeutic option if not in the general obese population, at least in patients with higher risk of cardiovascular morbidity and mortality. [less ▲]

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See detailPseudomalabsorption of thyroid hormones: case report and review of the literature.
Livadariu, E.; Valdes Socin, Hernan Gonzalo ULg; Burlacu, M. C. et al

in Annales d'Endocrinologie (2007), 68(6), 460-463

Many causes of thyroxine malabsorption are described in the literature, but the most common cause of failure of thyroxine therapy is poor patient compliance, or pseudomalabsorption. We describe the case ... [more ▼]

Many causes of thyroxine malabsorption are described in the literature, but the most common cause of failure of thyroxine therapy is poor patient compliance, or pseudomalabsorption. We describe the case of a female patient who underwent total thyroidectomy for Basedow-Graves disease. Post-operatively, several treatment regimens were employed to achieve euthyroidism, but only injectable thyroxine was found to be effective. To exclude levothyroxine malabsorption, the patient was hospitalized in a hypothyroid state while a single oral test dose of levothyroxine (1000 microg) was administered. Within 4 hours a decrease of TSH level (from 59.7 to 55.6 microUI/ml) and a significant increase in free T4 levels (from 0.8 to 15.5 pg/ml) was observed, eliminating a malabsorption problem. The cause of resistance to thyroid hormone therapy was poor patient compliance, leading to the designation of this as a case of pseudomalabsorption. [less ▲]

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See detailThe epidemiology and management of pituitary incidentalomas
Daly, Adrian ULg; Burlacu, M. C.; Livadariu, E. et al

in Hormone Research (2007), 68(Suppl. 5), 195-198

Prevalence: The prevalence of pituitary tumors has been a topic of controversy for many years. Autopsy and radiological series show that pituitary incidentalomas may be present in one of six people ... [more ▼]

Prevalence: The prevalence of pituitary tumors has been a topic of controversy for many years. Autopsy and radiological series show that pituitary incidentalomas may be present in one of six people. Recent epidemiological data suggest that clinically apparent pituitary adenomas have a prevalence of approximately one in 1,000 people in the general population. The disconnect between these two prevalence rates underlines the common clinical quandary of how to manage pituitary incidentalomas, particularly those lacking clinical signs/symptoms or hormonal abnormalities. Management: The natural history of incidentalomas suggests that periodic hormonal, clinical and radiological follow-up is the optimal approach. In the absence of tumor growth or relevant symptoms, screening can be continued intermittently or curtailed based on the clinical judgment of the physician. In the presence of hormonal hypersecretion, the management of pituitary incidentalomas, whether they are micro- or macroadenomas, should follow accepted clinical guidelines. For incidental pituitary macroadenomas without hormonal hypersecretion, clinical management should also include assessments for visual field impairment or hypopituitarism. In such cases, regular radiological and hormonal follow-up is required to identify tumor growth or the appearance of new symptoms. In the presence of tumor growth or new hormonal abnormalities, surgical options should be considered and discussed with the patient. Copyright (C) 2007 S. Karger AG, Basel. [less ▲]

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