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See detailEtude génétique et anatomopathologique du syndrome de McCune-Albright chez l'adulte
Beckers, Albert ULg; Burlacu, M.; Thiry, Albert ULg et al

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

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See detailThe Ratio of Parathyroid Hormone as Measured by Third- and Second-Generation Assays as a Marker for Parathyroid Carcinoma.
Cavalier, Etienne ULg; Daly, Adrian ULg; Betea, Daniela ULg et al

in Journal of Clinical Endocrinology and Metabolism (2010), 95

Background: Parathyroid carcinoma (PCa) is a rare disease that can be difficult to differentiate initially from severe benign parathyroid adenoma. PCa oversecrete the amino form of PTH, which is ... [more ▼]

Background: Parathyroid carcinoma (PCa) is a rare disease that can be difficult to differentiate initially from severe benign parathyroid adenoma. PCa oversecrete the amino form of PTH, which is recognized by third-generation but not by second-generation PTH immunoassays. In normal individuals, the third-generation to second-generation PTH ratio should be less than 1. Objective: Our objective was to study the utility of the third-generation to second-generation PTH ratio as a means of distinguishing PCa patients (n = 24) from control groups with and without disorders of calcium secretion, including patients on renal hemodialysis (n = 74), postrenal transplantation (n = 60), and primary hyperparathyroidism (PHP; n = 30). Setting and Design: We conducted a retrospective, laboratory-based study at tertiary referral academic centers. Results: The mean third-generation to second-generation ratio was 0.58 ± 0.10 in the dialysis patients, 0.54 ± 0.10 in the renal transplant group, 0.54 ± 0.12 in the elderly healthy patients, and 0.68 ± 0.11 in the PHP group. All 245 of these patients presented a PTH third-generation to second-generation ratio of less than 1. In contrast, we observed an inverted third-generation to second-generation PTH ratio of more than one in 20 PCa patients, whereas only four PCa patients had a normal ratio of less than 1. Conclusions: An inverted third-generation to second-generation PTH ratio occurred in the majority of patients with advanced PCa and was absent in all 245 relevant controls. A third-generation to second-generation PTH ratio higher than 1 had a sensitivity of 83.3% and a specificity of 100% among PHP patients as a marker for PCa. This ratio may be useful to identify patients with PCa earlier and to detect patients either at risk of developing PCa or those in whom recurrence is taking place. [less ▲]

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See detailManagement of acromegaly
Vasilev, Vladimir ULg; Daly, Adrian ULg; Zacharieva, Sabina et al

in F1000 Medecine Reports (2010), 2(54),

Acromegaly is caused by hypersecretion of growth hormone and resultant overproduction of insulinlike growth factor-1 and is associated with increased mortality and morbidity. Successful treatment ... [more ▼]

Acromegaly is caused by hypersecretion of growth hormone and resultant overproduction of insulinlike growth factor-1 and is associated with increased mortality and morbidity. Successful treatment modalities have been developed and are used in a multistep approach allowing normal life expectancy as well as improved quality of life in an increasing number of patients. [less ▲]

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See detailNouvelles perspectives dans l'exploration des déficiences hypophysaires
Beckers, Albert ULg; Valdes Socin, Hernan Gonzalo ULg

Scientific conference (2010, June 29)

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See detailLe tabac et ses effets sur le système endocrinien
Beckers, Albert ULg

Scientific conference (2010, June 09)

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See detailThe genetics of pituitary adenomas
Vandeva-Kalvacheva, Silvia ULg; Jaffrain-Rea, M. L.; Daly, Adrian ULg et al

in Best Practice & Research. Clinical Endocrinology & Metabolism (2010), 24(3), 461-76

Pituitary adenomas are one of the most frequent intracranial tumors with a prevalence of clinically-apparent tumors close to 1:1000 of the general population. They are clinically significant beause of ... [more ▼]

Pituitary adenomas are one of the most frequent intracranial tumors with a prevalence of clinically-apparent tumors close to 1:1000 of the general population. They are clinically significant beause of hormone overproduction and/or tumor mass effects in addition to the need for neurosurgery medical therapies and radiotherapy. The majority of pituitary adenomas have a sporadic origin with recognized genetic mutations seldom being found; somatotropinomas are an exception, presenting frequent somatic GNAS mutations. In this and other phenotypes, tumorigenesis could possibly be explained by altered function of genes implicated in cell cycle regulation, growth factors or their receptors, cell-signaling pathways, specific hormonal factors or other molecules with still unclear mechanisms of action. Genetic changes, such as allelic loss or gene amplification, and epigenetic changes, usually by promoter methylation, have been implicated in abnormal gene expression, but alternative mechanisms may be present. Familial cases of pituitary adenomas represent 5% of all pituitary tumors. MEN1 mutations cause multiple endocrine neoplasia type 1 (MEN1), while the Carney complex (CNC) is charcaterized by mutations in the protein kinase A regulatory subunit-1alpha (PRKAR1A) gene or changes in a locus at 2p16. Recently, a MEN1-like conditions, MEN4, was found to be related to mutations in the CDKN1B gene. The clinical entity of familialt isolated pituitary adenomas (FIPA) is characterized by genetic defects in the aryl hydrocarbon receptor interacting protein (AIP) gene in about 15% of all kindreds and 50% of homogenous somatotropinoma families. Identification of familial cases of pituitary adenomas is important as these tumors may be more aggressive than their sporadic counterparts. [less ▲]

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See detailHyperplasia-adenoma sequence in pituitary tumorigenesis related to AIP mutation
Daly, Adrian ULg; Beckers, Albert ULg

in ENDO 2010 : The 92nd Annual Meeting (2010, June)

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See detailCharacterization of prolatinomas resistant to dopaminergic agonists
Vroonen, Laurent ULg; Daly, Adrian ULg; Beckers, Albert ULg

in ENDO 2010 : The 92nd Annual Meeting (2010, June)

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See detailFamilial Isolated Pituitary Adenomas
Beckers, Albert ULg

Scientific conference (2010, June)

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See detailAdénomes hypophysaires familiaux
Beckers, Albert ULg

Scientific conference (2010, May 28)

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See detailLa pathologie hypothalamo-hypophysaire post-traumatique
VALDES SOCIN, Hernan Gonzalo ULg; Beckers, Albert ULg

Conference (2010, April 24)

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See detailProblèmes hypophysaires suite à une lésion cérébrale aigüe
Beckers, Albert ULg

Scientific conference (2010, April 23)

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See detailThe R304X mutation of the Aryl hydrocarbon receptor Interacting Protein gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?
Occhi, G.; Jaffrain-Rea, M. L.; Trivellin, G. et al

in Journal of Endocrinological Investigation (2010), 33

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of ... [more ▼]

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of early onset sporadic pituitary adenomas (PA). Among the AIP mutations reported so far, the R304X (AIPR304X) represents, together with the "Finnish mutation" Q14X, the most common one. Methods: Three AIPR304X Italian families, including a newly reported kindred, have been genotyped for 12 genetic markers surrounding the AIP gene in order to look for a potential founder effect in Italy. Disease penetrance and genotype-phenotype correlations were also addressed. Results: Analysis of chromosome 11' genetic markers revealed a common haplotype in two AIPR304X kindreds originating from central Italy. Overall, seventeen mutations carriers were identified, including 7 patients and 10 unaffected subjects, respectively, arguing in this case for a disease penetrance of 41%. Mean age at diagnosis was 19.1+/-6.7 years-old, with females tending to be older than males. Though most PA were somatotropinomas (6/7), a great variability in disease severity was observed, even between subjects sharing the same at-risk haplotype. Conclusion: These data provide strong evidence for a new founder effect of the AIPR304X mutation in central Italy and the observed variations in disease severity point out the role of additional genetic or environmental factors in such kindreds. [less ▲]

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See detailRecent Management of acromegaly
Beckers, Albert ULg

Scientific conference (2010, March)

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See detailHigher prevalence of clinically relevant pituitary adenomas confirmed.
Beckers, Albert ULg

in Clinical Endocrinology (2010), 72(3), 290-291

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See detailAdénomes hypophysaires familiaux
Beckers, Albert ULg

Scientific conference (2010, February 27)

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See detailRisk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients.
Goudet, P.; Murat, A.; Binquet, C. et al

in World Journal of Surgery (2010), 34(2), 249-255

Background - The natural history of multiple endocrine neoplasia type 1 (MEN1) is known through single-institution or single-family studies. We aimed to analyze the risk factors and causes of death in a ... [more ▼]

Background - The natural history of multiple endocrine neoplasia type 1 (MEN1) is known through single-institution or single-family studies. We aimed to analyze the risk factors and causes of death in a large cohort of MEN1 patients. Methods - Overall, 758 symptomatic MEN1 patients were identified through the GTE network (Groupe d’étude des Tumeurs Endocrines), which involves French and Belgian genetics laboratories responsible for MEN1 diagnosis and 80 clinical reference centers. The causes of death were analyzed. A frailty model, including time-dependent variables, was used to assess the impact of each clinical lesion, except for hyperparathyroidism, on survival. Results - The median follow-up was 6.3 years. Female gender, family history of MEN1, and recent diagnosis were associated with a lower risk of death. Compared with nonaffected patients, those with thymic tumors (hazard ratio [HR] = 4.64, 95% CI = 1.73-12.41), glucagonomas–vipomas–somatostatinomas (HR = 4.29, 95% CI = 1.54-11.93), nonfunctioning pancreatic tumors (HR = 3.43, 95% CI = 1.71-6.88), and gastrinoma (HR = 1.89, 95% CI = 1.09-3.25) had a higher risk of death after adjustment for age, gender, and diagnosis period. The increased risk of death among patients with adrenal tumors was not significant, but three patients died from aggressive adrenal tumors. Pituitary tumors, insulinomas, and bronchial tumors did not increase the risk of death. The proportion of MEN1-related deaths decreased from 76.8 to 71.4% after 1990. Conclusions - The prognosis of MEN1 disease has improved since 1980. Thymic tumors and duodenopancreatic tumors, including nonsecreting pancreatic tumors, increased the risk of death. Rare but aggressive adrenal tumors may also cause death. Most deaths were related to MEN1. New recommendations on abdominal and thoracic imaging are required. [less ▲]

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