References of "Daly, Adrian"
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See detailThe Third/Second Generation PTH Assay Ratio as a Marker for Parathyroid Carcinoma: Evaluation Using an Automated Platform
CAVALIER, Etienne ULg; BETEA, Daniela ULg; SCHLECK, Marie-Louise ULg et al

in Journal of Clinical Endocrinology and Metabolism (2014), 99(3), 453-7

Background: Parathyroid carcinoma (PCa) is rare and often difficult to differentiate initially from benign disease. Because PCa oversecretes amino PTH that is detected by third-generation but not by ... [more ▼]

Background: Parathyroid carcinoma (PCa) is rare and often difficult to differentiate initially from benign disease. Because PCa oversecretes amino PTH that is detected by third-generation but not by second-generation PTH assays, the normal generation PTH ( 1) is inverted in PCa (ie, 1). Objective: The objective of the investigation was to study the utility and advantages of automated generation PTH ratio measurements using the Liaison XL platform over existing manual techniques. Setting: The study was conducted at a tertiary-referral academic center. Design: This was a retrospective laboratory study. Subjects: Eleven patients with advanced PCa (mean age 56.0 y). The controls were patients with 1°-hyperparathyroidism (n 144;meanage 53.8 y), renal transplantation (n 41;meanage 50.6 y), hemodialysis (n 80; mean age 65.2 y), and healthy elderly subjects (n 40; mean age 72.6 y). Results: The median (interquartile range) generation PTH ratio was 1.16 (1.10 –1.38) in the PCa group, which was significantly higher than the control groups: 0.74 (hemodialysis, 0.71–0.75), 0.77 (renal transplant, 0.73–0.79), 0.80 (healthy elderly, 0.74–0.83), and 0.76 (1°-hyperparathyroidism, 0.74–0.78). An inverted -generation PTH ratio ( 1) was seen in 9 of 11 PCa patients (81.8%) and in 7 of 305 controls (2.3%), 3 of 80 hemodialysis (3.8%), and 4 of 144 1°-hyperparathyroidism patients (2.8%). Of four PCa patients who had a normal PTH ratio with the manual method, two had an inverted -generation PTH ratio with the automated method. Conclusions: Study of the -generation PTH ratio in large patient populations should be feasible using a mainstream automated platform like the Liaison XL. The current study confirms the utility of the inverted -generation PTH ratio as a marker of PCa (sensitivity: 81.8%; specificity: 97.3%). [less ▲]

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

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailA giant treated with growth hormone
Rostomyan, L; Potorac, I; Daly, Adrian ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailLiege acromegay Survey : An epidemiological study about the average age of death and the causes of mortality of acromegalic patients managed in liege
Petignot, S; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailDeletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.
Zatelli, Maria Chiara; Tagliati, Federico; Di Ruvo, Mauro et al

in Familial cancer (2014)

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to ... [more ▼]

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. [less ▲]

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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 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 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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See detailHypercalcemia treated by sunitinib
LOLY, Jean-Philippe ULg; VALDES SOCIN, Hernan Gonzalo ULg; Daly, Adrian ULg et al

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

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See detailLe gigantisme : Les résultats d'une étude clinique et génétique internationale
Rostomyan, Liliya ULg; Daly, Adrian ULg; Lila, A et al

in Annales d'Endocrinologie (2013, October), 74

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See detailCoexistence entre adénom hypophysaire et phéochromocytome - présentation de cas
Rostomyan, Liliya ULg; Potorac, Iulia ULg; Filipponi, S et al

in Annales d'Endocrinologie (2013, October), 74

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See detailFIPA : étude clinique et génétique à l'Hôpital "King Edward Memorial", Bombay (Mumbai) Inde
Bothra, N; Daly, Adrian ULg; CASTERMANS, Emilie ULg et al

in Annales d'Endocrinologie (2013, October), 74

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See detailCharacteristics of patients with pituitary gigantism : results of an international study
Rostomyan, Liliya ULg; Daly, Adrian ULg; Tichomirowa, M et al

in Endocrine abstracts - 15th European Congress of Endocrinology (2013, May)

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See detailReceptor expression in craniopharyngiomas causing tumor growth in pregnancy : case report and review of the literature
Tome, Monica; VROONEN, Laurent ULg; THIRY, Albert ULg et al

in Endocrine Abstracts - 15th European Congress of Endocrinology (2013, May)

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See detailPrise en charge des prolactinomes
VROONEN, Laurent ULg; Daly, Adrian ULg; Beckers, Albert ULg

in Revue Médicale Suisse (2013), 9

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