References of "Beckers, Albert"
     in
Bookmark and Share    
Full Text
Peer Reviewed
See detailLe phénotype d’Akhenaton ; revue critique entre canons artistiques et expression pathologique.
JEDIDI, Zayd ULg; JEDIDI, Haroun ULg; LAVEAUX, Elisabeth ULg et al

in Revue Médicale de Liège (in press)

Of all the royal families of ancient or modern fame, few are as iconic as the eighteenth dynasty of pharaohs of the New Kingdom of Egypt, whose opulence and deeds we are still familiar to nearly 3,500 ... [more ▼]

Of all the royal families of ancient or modern fame, few are as iconic as the eighteenth dynasty of pharaohs of the New Kingdom of Egypt, whose opulence and deeds we are still familiar to nearly 3,500 years after their time. Tenth pharaoh of this dynasty and father of Tutankhamun, Akhenaten (Amenhotep/Amenhotep IV) still fascinates Egyptologists and history lovers through the many questions surrounding his atypical rule. One of the most striking aspects of the so-called Amarna period concerns the representations of the pharaoh himself, very confusing compared to the traditional iconography of the New Kingdom. These intriguing portraits of Pharaoh raised a whole lot of medical assumptions, more or less substantiated. We review here the main theories developed throughout history. [less ▲]

Detailed reference viewed: 191 (53 ULg)
Full Text
Peer Reviewed
See detailAdvances in diagnosis and management of familial pituitary adenomas
JEDIDI, Haroun ULg; ROSTOMYAN, Lilith; POTORAC, Iulia et al

in International Journal of Endocrine Oncology (in press)

Familial pituitary adenomas accounts for approximately 5-8 % of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that bring together several endocrine or other systems ... [more ▼]

Familial pituitary adenomas accounts for approximately 5-8 % of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that bring together several endocrine or other systems disorders, 2-3% of the familial pituitary adenomas fit into the familial isolated pituitary adenomas (FIPA) syndrome. 20% of FIPA syndromes have shown mutations in the AIP gene and have distinct clinical characteristics. Recent findings have isolated a new non-AIP FIPA syndrome called X-LAG, resulting from duplication in GPR-101 gene. These new advances in the field of pituitary disease are opening up a new challenging domain to both clinician and researcher. This review will focus on these last findings and their contribution to the diagnosis and the management of familial pituitary adenomas. [less ▲]

Detailed reference viewed: 187 (7 ULg)
Full Text
Peer Reviewed
See detailAIP mutations and gigantism
Rostomyan, Liliya ULg; Potorac, Iulia ULg; BECKERS, Pablo ULg et al

in Annales d'Endocrinologie (2017)

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated ... [more ▼]

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤ 30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities. Bien que les mutations du gène AIP soient rares dans les cas d’acromégalie sporadique, l’importance de ces mutations est établie dans des populations spécifiques de patients telles que les patients qui souffrent de familial isolated pituitary adenomas (FIPA), de gigantisme ou qui présentent un macroadénome hypophysaire avant l’âge de 30 ans. C’est dans le gigantisme qu’elles sont le plus fréquemment retrouvées (29 % des géants présentent une mutation de ce gène). Dans ces populations, nos données suggèrent qu’il est utile de réaliser un screening ciblé pour les mutations ou délétions du gène AIP. La reconnaissance précoce des cas d’acromégalie et de gigantisme permet une évaluation clinique et un traitement appropriés de ces patients. Elle contribue à améliorer les résultats des traitements tant en terme de croissance excessive qu’en ce qui concerne les comorbidités liées à l’acromégalie. [less ▲]

Detailed reference viewed: 29 (8 ULg)
Full Text
Peer Reviewed
See detailAdipsic diabetes insipidus revealing a bifocal intracranial germinoma
KREUTZ, Julie ULg; Potorac, Iulia ULg; LUTTERI, Laurence ULg et al

in Annales d'Endocrinologie (2017)

Abstract Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the ... [more ▼]

Abstract Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the case of a patient with bifocal intracranial germinoma, diagnosed due to symptoms mainly caused by adipsic diabetes insipidus. This is, to our knowledge, the first case of adipsic diabetes insipidus revealing an intracranial germinoma reported in the literature. We describe the diagnostic procedures and the three-year follow-up of this patient. Management of intracranial germ-cell tumors is made complex by the wide range of histological features. Although germinomas have a generally better prognosis than most nongerminomatous tumors, they can have severe or even life-threatening presentations. Adipsic diabetes insipidus is one such severe presentation and its rarity can make it difficult to recognize and manage. Awareness of this potential entity is therefore important for clinical practice. Le diabète insipide adipsique est une des rares complications des tumeurs intracrâniennes. Il associe une baisse de la sécrétion d’hormone antidiurétique à une perte de la sensation de soif et ilsignale souvent la présence d’une lésion qui atteint ou envahit l’hypothalamus. Nous présentons le cas d’une patiente avec un germinome intracrânien bifocal diagnostiqué devant un tableau de diabète insipide adipsique. À notre connaissance, il s’agit du premier cas de la littérature d’un diabète insipide révélant un germinome intracrânien. La prise en charge des tumeurs germinales intracrâniennes est complexe du fait des phénotypes histologiques divers. Bien que les germinomes ont généralement un meilleur pronostic que les tumeurs non-germinomateuses, ils peuvent avoir des présentations sévères. Le diabète insipide adipsique est une de ces présentations sévères et sa rareté peut rendre son diagnostic et sa prise en charge difficiles. La reconnaissance de cette entité potentielle est, dès lors, importante pour la pratique clinique [less ▲]

Detailed reference viewed: 26 (6 ULg)
Full Text
See detailLa déficience en hormone lutéinisante: ses conséquences sur la reproduction
VALDES SOCIN, Hernan Gonzalo ULg; potorac, iulia; LIBIOULLE, Cécile ULg et al

in Urologic (2017), 13(1), 18-23

En physiologie de la reproduction, il est bien établi que les hormones glycoprotéiques hypophysaires LH (hormone lutéinisante) et FSH régulent de concert la production de stéroïdes sexuels (indispensables ... [more ▼]

En physiologie de la reproduction, il est bien établi que les hormones glycoprotéiques hypophysaires LH (hormone lutéinisante) et FSH régulent de concert la production de stéroïdes sexuels (indispensables à la virilisation et à la féminisation) ainsi que la gamétogenèse (spermatogenèse chez l’homme et folliculogenèse chez la femme). La sécrétion des gonadotrophines hypophysaires est à son tour stimulée par quelque 1.500 neurones hypothalamiques à GnRH (gonadotrophin releasing hormone) et inhibée par la GnIH (gonadotrophin nhibitory hormone), récemment identifiée (1). En amont de la GnRH, un ensemble de neuropeptides hypothalamiques tels que les kisspeptines, la neuroquinine B, la dinorphine, la leptine, etc., modulent sa sécrétion (Figure 1). Ces neuropeptides intègrent les différents signaux internes et de l’environnement, nécessaires à la puberté et, par la suite, à la reproduction. En corollaire de ces données physiologiques, les patients porteurs de mutations invalidant les gènes de la GnRH, des neuropeptides décrits et de leurs récepteurs souffrent d’un hypogonadisme hypogonadotrope. Ces patients présentent un déficit plus ou moins sévère de la sécrétion combinée de LH et de FSH (2, 3). Il a fallu attendre des observations rares, telles que des mutations de la sous-unité beta (β) de l’hormone lutéinisante, pour comprendre la contribution spécifique et isolée de cette hormone à la reproduction. Dans cet article, nous synthétisons les données historiques et récentes sur la déficience en hormone lutéinisante et ses conséquences sur la reproduction. [less ▲]

Detailed reference viewed: 24 (7 ULg)
Full Text
Peer Reviewed
See detailX-LAG: How did they grow so tall?
BECKERS, Albert ULg; Rostomyan, Liliya ULg; Potorac, Iulia ULg et al

in Annales d'Endocrinologie (2017)

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset ... [more ▼]

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is significantly younger than in other forms of pituitary gigantism. These patients have mixed GH and prolactin positive adenomas and/or mixed-cell hyperplasia and highly elevated levels of GH/IGF-1 and prolactin. Given their particularly young age of onset, the significant GH hypersecretion can lead to a phenotype of severe gigantism with very advanced age-specific height Z-scores. If not adequately treated in childhood, this condition results in extreme final adult height. XLAG has a clinical course that is highly similar to some of the tallest people with gigantism in history. « X-linked acrogigantism » (XLAG) est un syndrome pédiatrique récemment décrit, lié à des microduplications du chromosome Xq26.3, englobant le gène GPR101, responsable de l’affection. Les patients XLAG présentent un phénotype remarquablement distinct des autres cas de gigantisme hypophysaire. Dans tous les cas décrits, la maladie s’exprime avant 5 ans soit beaucoup plus tôt que dans les autres formes. Les patients ont habituellement un gros adénome ou une hyperplasie mixte pour la GH et la prolactine et des taux très élevés de GH/IGF1 et prolactine. En raison de son début très précoce, l’hypersécrétion importante de GH peut conduire à un gigantisme extrêmement sévère avec un Z-score très important pour l’âge. Si cette condition n’est pas traitée pendant l’enfance, elle peut conduire à une taille finale extrême. XLAG montre une évolution clinique similaire à celle observée chez les géants les plus grands de l’histoire. [less ▲]

Detailed reference viewed: 12 (5 ULg)
Full Text
Peer Reviewed
See detailComment on “Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene”
VALDES SOCIN, Hernan Gonzalo ULg; Daly, Adrian ULg; BECKERS, Albert ULg

in Korean Journal of Internal Medicine (The) (2017), 32(3), 566-567

Detailed reference viewed: 16 (4 ULg)
Full Text
Peer Reviewed
See detailStable GPR101 over-Expressing Cell Lines As an Invaluable Tool for Functional Studies, Ligand Screening, and the Identification of Deregulated Genes/Pathways in Patients with X-Linked Acrogigantism
Trivellin, Giampaolo; Janjic, Maria; Larco, Darwin et al

Poster (2017, April 02)

Background: GPR101 is an orphan G protein-coupled receptor (GPCR) that is duplicated in patients with X-linked acrogigantism (X-LAG) and over-expressed in their GH- and PRL-secreting tumors. GPR101 is a ... [more ▼]

Background: GPR101 is an orphan G protein-coupled receptor (GPCR) that is duplicated in patients with X-linked acrogigantism (X-LAG) and over-expressed in their GH- and PRL-secreting tumors. GPR101 is a constitutively active GPCR that strongly activates the cAMP pathway. To elucidate the mechanisms through which GPR101 causes GH over-secretion we generated HEK293 and GH/PRL-secreting (GH3) cells with stable GPR101 expression. Methods: Both cell lines were created via direct integration of a human GPR101-coding sequence into their genome. In HEK293 cells this was achieved by transient transfection of a GPR101-expressing plasmid, while GH3 were transduced with GPR101 lentiviral particles. Cells were selected with appropriate antibiotics and the surviving clones expanded. GPR101 expression was quantified by RT-qPCR and immunofluorescence/western blotting. Cell proliferation (MTT assay), cAMP levels (125I-labeled cAMP tracer), and calcium signaling (FURA 2 AM) were determined. RNA was extracted from both cell lines and subjected to RNA-seq. Differential gene expression between control and GPR101-expressing cells and pathway analysis was carried out with the Stirplate and MetaCore softwares, respectively. De-regulated genes were validated by RT-qPCR. Results: High GPR101 expression was achieved in both cell lines and confirmed at the mRNA and protein level. GPR101-expressing cells proliferated at different rates from the respective controls: GPR101-HEK293 cells were slow-dividing, while GPR101-GH3 divided faster. cAMP production was enhanced in GPR101-GH3 and accompained by increased excitability of cells. Differential expression analysis in HEK293 cells revealed several up-regulated and few down-regulated genes. Among the genes with high expression, several were linked to the cAMP pathway: CGA, PCK1, LINC00473 and PDE3A. Enrichment analysis ranked cytoskeleton remodeling and cell cycle regulation (inhibition of G1/S transition) as the most relevant pathways. In GH3 cells most of the genes with a significantly different expression encoded for membrane-localized proteins, among which were ion channels (Trpm8, Kcnj1), GPCRs (Trhr), and calcium sensors (Syt4, Anxa1). Biological processes associated with these genes are: vesicle transport and fusion, cytoskeleton organization, and energy homeostasis. Conclusions: These results show that the intrinsic activity of GPR101 strongly stimulates cAMP production and this in turn facilitates voltage-gated calcium influx. Changes in cAMP/calcium signaling are accompanied with faster/slower cell division depending on the cell type. Accordingly, several genes associated with these and related pathways are differentially expressed. The establishment of these cell lines will be of paramount importance to validate putative GPR101 ligands and to conduct functional studies. [less ▲]

Detailed reference viewed: 43 (2 ULg)
Full Text
Peer Reviewed
See detailPrimary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly
Mangupli, Ruth; Daly, Adrian ULg; Cuauro, Elvia et al

in Endocrinology, Diabetes and Metabolism Case Reports (2017)

Detailed reference viewed: 6 (0 ULg)
See detailHow the became the tallest of the world
Beckers, Albert ULg

Scientific conference (2017, March 09)

Detailed reference viewed: 1 (0 ULg)
Full Text
Peer Reviewed
See detailGenetics of Pituitary Tumor Syndromes
Daly, Adrian ULg; BECKERS, Albert ULg

in Melmed, Shlomo (Ed.) The Pituitary (2017)

Detailed reference viewed: 28 (6 ULg)
Full Text
Peer Reviewed
See detailPaleogenetic study of ancient DNA suggestive of X-Linked acrogigantism
Beckers, Albert ULg; Fernandes, Daniel; Fina, Frederic et al

in Endocrine-Related Cancer (2017)

Detailed reference viewed: 18 (5 ULg)
Full Text
See detailSomatic mosaicism is implicated in the etiology of XLAG syndrome
Rostomyan, Liliya ULg; Daly, Adrian ULg; Yuan, Bo et al

in Abstract book : Symposium "Perspectives in Endocrinology" (2017, January)

Detailed reference viewed: 26 (2 ULg)
Full Text
See detailGenetic predisposition to breast cancer occuring in a male-to-female transsexual patient
Potorac, Iulia ULg; CORMAN, Vinciane ULg; Manto, Florence ULg et al

in Abstract book : Symposium "Perspectives in Endocrinology" (2017, January)

Detailed reference viewed: 46 (12 ULg)
See detailThe road from the adenoma valley through the forest of genetic testing in pituitary adenoma
Beckers, Albert ULg

Scientific conference (2017, January)

Detailed reference viewed: 16 (1 ULg)
Full Text
Peer Reviewed
See detailChanges in the management and comorbidities of acromegaly over three decades. The French Acromegaly Registry.
Maione, Luigi; Brue, Thierry; Beckers, Albert ULg et al

in European Journal of Endocrinology (2017), 176(5), 645-655

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French registry contains data on acromegaly ... [more ▼]

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French registry contains data on acromegaly epidemiology, management and comorbidities recorded over more than three decades, retrospectively until 1999 and prospectively from 1999 until 2012. RESULTS: Data could be analyzed for 999 of the 1034 patients included in the registry (46% males). Disease control, defined as IGF-I normalization (adjusted for age and sex), was achieved in 75% of patients at the last follow-up visit. Half the patients with uncontrolled disease had IGF-I levels below 1.5 times the upper limit of normal (ULN). The proportion of patients with surgically cured disease did not change markedly over time, whereas the proportion of patients with uncontrolled disease fell and the proportion of patients with medically controlled disease rose. Cardiovascular, metabolic, respiratory and rheumatologic comorbidities and their outcomes were recorded for most patients, and no noteworthy overall deterioration was noted over time. Cancer occurred in 10% of patients, for a standardized incidence ratio of 1.34 (95% CI, 0.94-1.87) in men and 1.24 (0.77-1.73) in women. Forty-one patients died during follow-up, for a standardized mortality ratio of 1.05 (0.70-1.42). Most deaths were due to cancer. CONCLUSIONS: The majority of patients with acromegaly now have successful disease control thanks to multistep management. The incidence of comorbidities following diagnosis of acromegaly is very low. Life expectancy is now close to that of the general population, probably owing to better management of the GH/IGF-I excess and comorbidities. [less ▲]

Detailed reference viewed: 7 (2 ULg)
Full Text
Peer Reviewed
See detailT2-weighted MRI signal intensity as a predictor of hormonal and tumoral responses to somatostatin receptor ligands in acromegaly: a perspective.
Potorac, Iulia ULg; Beckers, Albert ULg; BONNEVILLE, Jean-François ULg

in Pituitary (2017), 20(1), 116-120

T2-weighted MRI signal intensity of GH-secreting pituitary adenomas is gaining recognition as a marker of disease characteristics and may be a predictor of response to treatment of acromegaly. Adenomas ... [more ▼]

T2-weighted MRI signal intensity of GH-secreting pituitary adenomas is gaining recognition as a marker of disease characteristics and may be a predictor of response to treatment of acromegaly. Adenomas that are T2-hypointense are more common, are smaller and are less likely to invade the cavernous sinus compared to the T2-iso and hyperintense tumors. T2-hypointense tumors are also accompanied by higher IGF1 values at baseline. When presurgical somatostatin receptor ligand (SRL) therapy is administered, T2-hypointense adenomas have better hormonal responses and have greater tumor shrinkage. Adjuvant SRL therapy of patients with T2-hypointense tumors that are uncured by surgery is also associated with a better hormonal response. We review the studies that have dealt with the T2-weighted signal intensity of GH-secreting pituitary tumors and elaborate on the details and nuances of this promising avenue of research. [less ▲]

Detailed reference viewed: 2 (1 ULg)
Full Text
Peer Reviewed
See detailCabergoline for Cushing's disease: a large retrospective multicenter study.
Ferriere, A.; Cortet, C.; Chanson, P. et al

in European Journal of Endocrinology (2017), 176(3), 305-314

OBJECTIVE: The efficacy of cabergoline in Cushing's disease (CD) is controversial. The aim of this study was to assess the efficacy and tolerability of cabergoline in a large contemporary cohort of ... [more ▼]

OBJECTIVE: The efficacy of cabergoline in Cushing's disease (CD) is controversial. The aim of this study was to assess the efficacy and tolerability of cabergoline in a large contemporary cohort of patients with CD. DESIGN: We conducted a retrospective multicenter study from thirteen French and Belgian university hospitals. METHODS: Sixty-two patients with CD received cabergoline monotherapy or add-on therapy. Symptom score, biological markers of hypercortisolism and adverse effects were recorded. RESULTS: Twenty-one (40%) of 53 patients who received cabergoline monotherapy had normal urinary free cortisol (UFC) values within 12 months (complete responders), and five of these patients developed corticotropic insufficiency. The fall in UFC was associated with significant reductions in midnight cortisol and plasma ACTH, and with clinical improvement. Compared to other patients, complete responders had similar median baseline UFC (2.0 vs 2.5xULN) and plasma prolactin concentrations but received lower doses of cabergoline (1.5 vs 3.5 mg/week, P < 0.05). During long-term treatment (>12 months), cabergoline was withdrawn in 28% of complete responders because of treatment escape or intolerance. Overall, sustained control of hypercortisolism was obtained in 23% of patients for 32.5 months (19-105). Nine patients on steroidogenesis inhibitors received cabergoline add-on therapy for 19 months (1-240). Hypercortisolism was controlled in 56% of these patients during the first year of treatment with cabergoline at 1.0 mg/week (0.5-3.5). CONCLUSIONS: About 20-25% of CD patients are good responders to cabergoline therapy allowing long-term control of hypercortisolism at relatively low dosages and with acceptable tolerability. No single parameter, including the baseline UFC and prolactin levels, predicted the response to cabergoline. [less ▲]

Detailed reference viewed: 30 (2 ULg)
Full Text
Peer Reviewed
See detailMRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment.
Eroukhmanoff, J.; Tejedor, I.; Potorac, Iulia ULg et al

in European Journal of Endocrinology (2017), 176(3), 323-328

OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin ... [more ▼]

OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin is controlled. The aim of our study was to determine whether a regular MRI follow-up was necessary in patients with long-term normal prolactin levels under DA. PATIENTS AND METHODS: We conducted a retrospective multicenter study (Marseille, Paris La Pitie Salpetriere and Nancy, France; Liege, Belgium) including patients with macroprolactinomas (largest diameter: >10 mm and baseline prolactin level: >100 ng/mL) treated by dopamine agonists, and regularly followed (pituitary MRI and prolactin levels) during at least 48 months once normal prolactin level was obtained. RESULTS: In total, 115 patients were included (63 men and 52 women; mean age at diagnosis: 36.3 years). Mean baseline prolactin level was 2224 +/- 6839 ng/mL. No significant increase of tumor volume was observed during the follow-up. Of the 21 patients (18%) who presented asymptomatic hemorrhagic changes of the macroprolactinoma on MRI, 2 had a tumor increase (2 and 7 mm in the largest size). Both were treated by cabergoline (1 mg/week) with normal prolactin levels obtained for 6 and 24 months. For both patients, no further growth was observed on MRI during follow-up at the same dose of cabergoline. CONCLUSION: No significant increase of tumor size was observed in our patients with controlled prolactin levels on DA. MRI follow-up thus appears unnecessary in patients with biologically controlled macroprolactinomas. [less ▲]

Detailed reference viewed: 32 (2 ULg)