References of "Daly, Adrian"
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See detailProspective, long-term study of the effect of cabergoline on valvular status in patients with prolactinoma and idiopathic hyperprolactinemia.
VROONEN, Laurent ULg; Lancellotti, Patrizio ULg; Garcia, Monica Tome et al

in Endocrine (2016)

Since the 1990's cabergoline has been the treatment of choice in prolactinoma, as it permits rapid and effective hormonal and tumor control in most cases. Evidence of cardiac valvulopathy was demonstrated ... [more ▼]

Since the 1990's cabergoline has been the treatment of choice in prolactinoma, as it permits rapid and effective hormonal and tumor control in most cases. Evidence of cardiac valvulopathy was demonstrated in Parkinson's disease patients treated with dopamine agonists. Retrospective studies in prolactinoma patients treated with cabergoline at lower doses did not show such an effect. However, few prospective data with long-term follow-up are available. The aim of this study was to assess the safety of cabergoline regarding cardiac valvular status during prospective follow-up in patients treated for prolactinoma or idiopathic hyperprolactinemia. We report here a series of 100 patients (71F; median age at diagnosis: 41.5 years) treated with cabergoline for endocrine diseases (prolactinoma n = 89, idiopathic hyperprolactinemia n = 11). All patients underwent complete transthoracic echocardiographic studies at baseline and during long-term prospective surveillance using the same equipment and performed by the same technicians. The median interval between baseline and last follow-up echocardiographic studies while on cabergoline was 62.5 months (interquartile range: 34.75-77.0). The median total duration of cabergoline treatment was 124.5 months (interquartile range: 80.75-188.75) and the median cumulative total dose of cabergoline was 277.8 mg (interquartile range : 121.4-437.8 mg) at last follow-up. We found no clinically relevant alterations in cardiac valve function or valvular calcifications with cabergoline treatment. Our data suggest that findings from retrospective analyses are correct and that cabergoline is a safe chronic treatment at the doses used typically in endocrinology. [less ▲]

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See detailSomatic mosaicism is implicated in the etiology of XLAG syndrome
Rostomyan, Liliya ULg; Daly, Adrian ULg; Yuan, Bo et al

in 26nd meeting of the Belgian Endocrine Society - Abstract book (2016, October)

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See detailHypogonadism due to a novel inactivating mutation of the luteinizing hormone beta subunit (LHB) gene leading to impaired protein trafficking
Potorac, Iulia ULg; Rivero-muller, a; Trehan, A et al

in 26nd meeting of the Belgian Endocrine Society - Abstract book (2016, October)

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See detailT2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly.
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Endocrine-Related Cancer (2016), 23(11), 871881

GH-secreting pituitary adenomas can be hypo-, iso- or hyperintense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to analyze the ... [more ▼]

GH-secreting pituitary adenomas can be hypo-, iso- or hyperintense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to analyze the relationship between T2-weighted signal intensity on diagnostic MRI and hormonal and tumoral responses to somatostatin analogs (SSA) as primary monotherapy. Acromegaly patients receiving primary SSA for at least 3 months were included in the study. Hormonal, clinical and general MRI assessments were performed and assessed centrally. We included 120 patients with acromegaly. At diagnosis, 84, 17 and 19 tumors were T2-hypo-, iso- and hyperintense, respectively. SSA treatment duration, cumulative and mean monthly doses were similar in the three groups. Patients with T2-hypointense adenoma had median SSA-induced decreases in GH and IGF-1 of 88% and 59% respectively, which were significantly greater than the decreases observed in the T2-iso- and hyperintense groups (p<0.001). Tumor shrinkage on SSA was also significantly greater in the T2-hypointense group (38%) compared with the T2-iso- and hyperintense groups (8% and 3%, respectively; p<0.0001). The response to SSA correlated with the calculated T2-intensity: the lower the T2-weighted intensity, the greater the decrease of random GH (p<0.0001, r=0.22), IGF-1 (p<0.0001, r=0.14) and adenoma volume (p<0.0001, r=0.33). The T2-weighted signal intensity of GH-secreting adenomas at diagnosis correlates with the hormone reduction and tumor shrinkage in response to primary SSA treatment in acromegaly. This study supports its use as a generally available predictive tool at diagnosis that could help to guide subsequent treatment choices in acromegaly. [less ▲]

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See detailCharacterization of GPR101 transcripts structure and expression patterns
Trivellin, Giampaolo; Ivana, Bjelobaba; Daly, Adrian ULg et al

in Journal of Molecular Endocrinology (2016)

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See detailGenetic predisposition to breast cancer occurring in a male-to-female transsexual patient
Potorac, Iulia ULg; CORMAN, Vinciane ULg; Manto, Florence et al

Poster (2016, May)

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See detailMANAGEMENT OF ENDOCRINE DISEASE: Pituitary "incidentaloma": Neuroradiological assessment and differential diagnosis.
Vasilev, Vladimir; Rostomyan, Liliya ULg; Daly, Adrian ULg et al

in European Journal of Endocrinology (2016), 175(4), 171184

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See detailSomatic mosaicism underlies X-linked acrogigantism (XLAG) syndrome in sporadic male subjects
Daly, Adrian ULg; Yuan, Bo; Fina, Frederic et al

in Endocrine-Related Cancer (2016)

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric ... [more ▼]

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. [less ▲]

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See detailCharacterization of GPR101 transcripts structure, expression and signaling
Trivellin, G; Bjelobaba, I; Daly, Adrian ULg et al

in Abstract book - Keystone Symposia on GPCRs (2016, February)

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See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Lysy, P; Desfilles, C et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailA vital region for human glycoprotein hormone trafficking revealed by an LHB mutation.
Potorac, Iulia ULg; Rivero-Muller, Adolfo; Trehan, Ashutosh et al

in Journal of Endocrinology (2016), 231(3), 197-207

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations ... [more ▼]

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with selective LH deficiency and hypogonadism in two brothers. DNA sequencing of LHB was performed and the effects of genetic variants on hormone function and secretion were characterized by mutagenesis studies, confocal microscopy and functional assays. A 20-year-old male from a consanguineous family had pubertal delay, hypogonadism and undetectable LH. A homozygous c.118_120del (p.Lys40del) mutation was identified in the patient and his brother, who subsequently had the same phenotype. Treatment with hCG led to pubertal development, increased circulating testosterone and spermatogenesis. Experiments in HEK293 cells revealed that the mutant LH is retained intracellularly and showed diffuse cytoplasmic distribution. The mutated LHB heterodimerizes with the common alpha subunit and can activate its receptor. Deletion of flanking glutamic acid residues at positions 39 and 41 impair LH to a similar extent as deletion of Lys40. This region is functionally important across all heterodimeric glycoprotein hormones, because deletion of the corresponding residues in hCG, follicle-stimulating hormone and thyroid-stimulating hormone beta-subunits also led to intracellular hormone retention. This novel LHB mutation results in hypogonadism due to intracellular sequestration of the hormone and reveals a discrete region in the protein that is crucial for normal secretion of all human glycoprotein hormones. [less ▲]

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See detailCancer thyroïdien familial non médullaire : actualités cliniques et génétiques
VALDES SOCIN, Hernan Gonzalo ULg; Gonon Rodrigues Palmeira, Leonor ULg; Burlacu, MC et al

in Revue Médicale de Liège (2016), 71

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See detailBreast cancer in a male to female transsexual patient with a BRCA2 mutation
CORMAN, Vinciane ULg; Potorac, Iulia ULg; Manto, Florence ULg et al

in Endocrine-Related Cancer (2016), 23(5), 391-397

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in ... [more ▼]

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in male breast cancer pathophysiology. Male-to-female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change in the hormonal milieu can be disadvantageous and favor the development of hormonedependent pathologies, such as cancer. We report a case of a MtF transgender patient who developed breast cancer after 7 years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. [less ▲]

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See detailGPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency
Castinetti, F; Daly, Adrian ULg; Stratakis, CA et al

in Hormone & Metabolic Research (2016)

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See detailScreening for GPR101 defects in pediatric pituitary corticotropinomas.
Trivellin, Giampaolo; Correa, Ricardo R.; Batsis, Maria et al

in Endocrine-related cancer (2016), 23(5), 357-365

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been ... [more ▼]

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been identified in pediatric CD, but the genetic defects in a significant percentage of cases are still unknown. We investigated the orphan G protein-coupled receptor GPR101, a gene known to be involved in somatotropinomas, for its possible involvement in corticotropinomas. We performed GPR101 sequencing, expression analyses by RT-qPCR and immunostaining, and functional studies (cell proliferation, pituitary hormones secretion, and cAMP measurement) in a series of patients with sporadic CD secondary to ACTH-secreting adenomas in whom we had peripheral and tumor DNA (N=36). No increased GPR101 expression was observed in tumors compared to normal pituitary (NP) tissues, nor did we find a correlation between GPR101 and ACTH expression levels. Sequence analysis revealed a very rare germline heterozygous GPR101 variant (p.G31S) in one patient with CD. Overexpression of the p.G31S variant did not lead to increased growth and proliferation, although modest effects on cAMP signaling were seen. GPR101 is not overexpressed in ACTH-secreting tumors compared to NPs. A rare germline GPR101 variant was found in one patient with CD but in vitro studies did not support a consistent pathogenic effect. GPR101 is unlikely to be involved in the pathogenesis of CD. [less ▲]

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See detailExpression of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha) in somatotropinomas: Relationship with Aryl hydrocarbon receptor Interacting Protein (AIP) and in vitro effects of fenofibrate in GH cells.
Rotondi, Sandra; Modarelli, Alessio; Oliva, Maria-Antonietta et al

in Molecular and cellular endocrinology (2016)

PURPOSE: To search for a possible role of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha), a molecular partner of the Aryl hydrocarbon receptor Interacting Protein (AIP), in somatotropinomas ... [more ▼]

PURPOSE: To search for a possible role of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha), a molecular partner of the Aryl hydrocarbon receptor Interacting Protein (AIP), in somatotropinomas. METHODS: Tumours from 51 acromegalic patients were characterized for PPARalpha and AIP expression by immunohistochemistry (IHC) and/or Real Time RT-PCR. Data were analysed according to tumour characteristics and pre-operative treatment with somatostatin analogues (SSA). The effects of fenofibrate were studied in GH3 cells in vitro. RESULTS: PPARalpha was expressed in most somatotropinomas. A modest relationship was found between PPARalpha and AIP expression, both being significantly higher in the presence of pre-operative SSA. However, only AIP expression was influenced by the response to treatment. Dual effects of fenofibrate were observed in GH3 cells, consisting of cell growth inhibition and an increase in GH secretion inhibited by octreotide. CONCLUSIONS: PPARalpha is a new player in somatotropinomas. Potential interactions between PPARalpha agonists and SSA may deserve further investigation. [less ▲]

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See detailHow T2-weighted signal intensity of GH-secreting adenomas correlates wit response to primary somatostatin analogue therapy in acromegaly
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Abstract book - 25th meeting of the Belgian Endocrine Society (2015, October)

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