References of "Beckers, Albert"
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See detailA clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.
Salvatori, Roberto; Daly, Adrian ULg; Quinones-Hinojosa, Alfredo et al

in Endocrinology, diabetes & metabolism case reports (2014), 2014

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated ... [more ▼]

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease. LEARNING POINTS: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure. [less ▲]

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See detailA bittersweet symphony.
Daly, Adrian ULg; Beckers, Albert ULg

in Endocrine-related cancer (2014)

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is ... [more ▼]

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is characterized by gastrointestinal stromal tumors (GIST), paraganglioma and pulmonary chondromas. [less ▲]

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See detailReproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Valdes-Socin, Hernan; Rubio Almanza, Matilde; Tome Fernandez-Ladreda, Mariana et al

in Frontiers in endocrinology (2014), 5

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the ... [more ▼]

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology. [less ▲]

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See detailEl sindrome tirogastrico autoinmune : sus efectos sobre los micronutrientes y la tumorigenesis gastrica
VALDES SOCIN, Hernan Gonzalo ULg; LUTTERI, Laurence ULg; Cavalier, Etienne ULg et al

in Revista Argentina de Endocrinologia y Metabolismo (2014), 51

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See detailUne Histoire d'hypophyse, évolution des représentations et des concepts au fil du temps.
JEDIDI, Haroun ULg; JEDIDI, Zayd ULg; BECKERS, Albert ULg

in Revue Médicale de Liège (2014)

De par le rôle essentiel qu’il occupe, l’axe hypothalamo-hypophysaire, véritable chef d’orchestre du système endocrinien, constitue au niveau médical un important pourvoyeur de désordres. Il est assez ... [more ▼]

De par le rôle essentiel qu’il occupe, l’axe hypothalamo-hypophysaire, véritable chef d’orchestre du système endocrinien, constitue au niveau médical un important pourvoyeur de désordres. Il est assez paradoxal de constater que malgré l’importance de ce système, celui-ci ait été presque complètement méconnu par les physiologistes des siècles passés. En nous basant sur les conceptions physiologiques des médecins philosophes de l’antiquité puis du moyen-âge et de la renaissance nous tenterons de comprendre pourquoi le rôle de l’hypophyse a été si longtemps méconnu. [less ▲]

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See detailAIP-Zac 1 pathway perturbations and tumour phenotype
Beckers, Albert ULg

Scientific conference (2013, December 13)

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See detailHypopituitarism in pituitary gigantism (results of an international study)
Rostomyan, Liliya ULg; Daly, Adrian ULg; Shah, NS et al

in The 3rd ENEA Workshop : Hypopituitarism - Abstract book (2013, December)

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See detailA giant treated with growth hormone
Rostomyan, Liliya ULg; Potorac, Iulia ULg; CASTERMANS, Emilie ULg et al

in The 3rd ENEA Workshop : Hypopituitarism - Abstract book (2013, December)

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See detailPRL tumors : diagnosis and treatment
Beckers, Albert ULg

Scientific conference (2013, November 18)

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See detailFamilial Isolated pituitary adenomas and AIP gene mutations
Beckers, Albert ULg

Scientific conference (2013, November 15)

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See detailPersistent low levels of serum hCG: please do not miss phantom hCG! (pseudohypergonadotropinemia syndrome)
VALDES SOCIN, Hernan Gonzalo ULg; SYRIOS, Petros ULg; GADISSEUR, Romy ULg et al

in Acta Clinica Belgica (2013), 68(6), 465

Introduction: Beyond pregnancy, persistent low levels of hCG may be associated with various benign and malignant conditions, i.e. quiescent gestational trophoblastic disease (QTD), raised pituitary hCG or ... [more ▼]

Introduction: Beyond pregnancy, persistent low levels of hCG may be associated with various benign and malignant conditions, i.e. quiescent gestational trophoblastic disease (QTD), raised pituitary hCG or false positive elevation caused by circulating heterophilic antibodies. This situation requires a clinico-biological approach in order to avoid misunderstandings that could lead to inappropriate diagnostic or therapeutic attitudes. Observation: A 23 years old woman (GOPO status) consulted his gynaecologist because of persistent abdominal pain. She was diagnosed of having trophoblastic disease on the basis of persistently positive human chorionic gonadotropin (hCG) test (Roche Modular) results, in the absence of pregnancy. Persistent low levels of hCG (around 10 U/L) were detected in her plasma. The patient underwent a trial with methotrexate chemotherapy. Abdominal pain was unrelieved whereas plasma hCG was 8.9 U/L. A serology test for Chlamydia indicated persistent infection and a course of antibiotic treatment was underwent without any relief. A laparoscopic exploration ruled out any trophoblastic residue or pelvic adherences. The patient was referred to the Endocrine Unit for further pituitary and hormonal investigations. Plasma and urine samples were sent to Biology Service to exclude a false hCG positive value. While low levels of hCG were detected in serum by assay, no significant hCG was detected in the urine (0,1 U/L). When serum was treated with HBT tube for the detection of heterophilic antibodies, hCG levels were 0.98 U/L. After mouse serum treatment, hCG was not further detected in our patient, indicating the presence of phantom hCG due to the presence of human anti mouse heterophilic antibodies. Conclusions: Textbooks on obstetrics and gynecology emphasize the importance of plasma hCG testing in patients with trophoblastic diseases. The ability of laboratory measurements to guide the clinician appropriately in every circumstance is limited. Caution should be exercised when clinical findings and laboratory results are discordant. Current protocols for the diagnosis and treatment of trophoblastic disease should include a compulsory test for hCG in urine and a test for heterophilic antibodies when appropriate. In this case report, we demonstrated that phantom hCG, was caused by heterogenous human anti mouse antibodies. [less ▲]

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See detailRefractory hypercalcemia and ectopic calcitonin secretion in a malignant pancreatic neuroendocrine tumor: hypocalcemic effects on cinacalcet
VALDES SOCIN, Hernan Gonzalo ULg; rubio almanza, Matilde; LOLY, Jean-Philippe ULg et al

in Acta Clinica Belgica (2013), 68(6), 42

Introduction: Paraneoplastic hypercalcemia is a sign of poor prognosis, as it is particularly resistant to the usual hypocalcemic treatments. Observation: In 2009, a well differentiated pancreatic ... [more ▼]

Introduction: Paraneoplastic hypercalcemia is a sign of poor prognosis, as it is particularly resistant to the usual hypocalcemic treatments. Observation: In 2009, a well differentiated pancreatic neuroendocrine tumor (Ki-67= 2%) is diagnosed in a 52-year-old diabetic man. The tumor is revealed with a splenic and hepatic carcinomatosis. Plasmatic calcium was: 3.54 mmol/L (2.15 - 2.6). Biology showed hypophosphatemia, PTH < 4 ng/ml, high 1-25 OH VitD, calcitonin: 1016 ng/ml (< 12 ng/ml). He had hypercalciuria and hypophosphaturia. He received for two years several cycles of Streptozotocin-ADRIAMYCIN and FOLFOX, with partial control of the tumor mass and calcium levels. In 2012, calcitonin levels are 29 ng/ml whereas calcemia is 3.17 mmol/L. Hypercalcemia is refractory to hyperhydration, diuretics, corticosteroids, and bisphosphonates therapy. Cinacalcet (Mimpara) is prescribed up to 120 mg/day (PO). Calcemia decreases gradually from 3 to 2.87 and then 2.76 mmol/L. PTH and calcitonin-the tumor mass remain unchanged. After two months of Cinacalcet treatment, Sunitinib (Sutent) 37.5 mg per day was added. During the third month, calcium levels dropped to 2.09 mmol/L and PTH raised to 78 pg/ml, requiring discontinuation of Mimpara. Calcitonin normalized, with a further improvement over pancreatic and metastatic lesions. Conclusion: Cinacalcet is a Calcium Sensing Receptor oral agonist. Cinacalcet hypocalcemic effects have not been previously documented in pancreatic paraneoplastic hypercalcemia. In our patient, Cinacalcet has significantly improved cancer prognosis: this drug could be a new alternative in paraneoplastic hypercalcemia. [less ▲]

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See detailPPNAD- a rare cause of Cushing's syndrome
Rostomyan, Liliya ULg; PETIGNOT, Sandrine ULg; VROONEN, Laurent ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailPituitary magnetic resonance imaging in gigantism : first result after analysis of 16 cases
BECK, Emmanuel ULg; KREUTZ, Julie ULg; TSHIBANDA, Luaba ULg et al

in 23rs meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, Anne-Sophie ULg; Potorac, Iulia ULg; DEBRAY, François-Guillaume ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailBifocal intracranial germinoma : is biopsy still mandatory ?
KREUTZ, Julie ULg; TSHIBANDA, Luaba ULg; BONNEVILLE, Jean-François ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailCorrelations of the High Resolution MRI aspect of GH-secreting pituitary adenomas prior to treatment
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Schillo, F et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailModification of hormonal secretion in macroprolactinoma on treatment
VROONEN, Laurent ULg; Rostomyan, Liliya ULg; Potorac, Iulia ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailCharacteristics of patients with AIP mutation-related prolactinomas
Camby, S; Daly, Adrian ULg; VROONEN, Laurent ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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