References of "NECHIFOR - POTORAC, Iulia"
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See detailNeuroimaging of aggressive pituitary tumors
BONNEVILLE, Jean-François ULiege; NECHIFOR - POTORAC, Iulia ULiege; Beckers, Albert ULiege

in Reviews in Endocrine and Metabolic Disorders (2020)

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See detailImagerie par résonance magnétique de la région hypothalamohypophysaire
BONNEVILLE, Jean-François ULiege; NECHIFOR - POTORAC, Iulia ULiege; BONNEVILLE, F et al

in EMC - Endocrinologie (2020)

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See detailCompound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.
NECHIFOR - POTORAC, Iulia ULiege; Trehan, Ashutosh; Szymanska, Kamila et al

in European journal of endocrinology (2019)

Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotrophin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand ... [more ▼]

Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotrophin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand leads to impaired sexual differentiation in males. A phenotypically-female patient with pubertal delay, had a 46,XY karyotype and was diagnosed with 46X,Y disorder of sex development (DSD). Novel compound heterozygous LHCGR mutations were found in the signal peptide: a duplication p.L10_Q17dup of maternal origin, and a deletion (p.K12_L15del) and a p.L16Q missense mutation of paternal origin. cAMP production was very low for both the deletion and duplication mutations and was halved for the missense mutant. The duplication and missense mutations were both expressed intracellularly, but at very low levels at the cell membrane; they were most likely retained in the endoplasmic reticulum. The deletion mutant had a very limited intracellular expression, indicating impaired biosynthesis. There was reduced expression of all three mutants, which was most marked for the deletion mutation. There was also decreased protein expression of all three mutant receptors. In the deletion mutation, the presence of a lower molecular weight band corresponding to LHCGR monomer, probably due to lack of glycosylation, and a lack of bands corresponding to dimers/oligomers suggests absent ER entry. This novel case of 46X,Y DSD illustrates how three different LHCGR signal peptide mutations led to complete receptor inactivation by separate mechanisms. The study underlines the importance of specific regions of signal peptides and expands the spectrum of LHCGR mutations. [less ▲]

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See detailRepercussions endocriniennes des immunotherapies.
Chachati, Anne-Sophie ULiege; NECHIFOR - POTORAC, Iulia ULiege; Petrossians, Patrick ULiege et al

in Revue medicale de Liege (2019), 74(12), 642-649

Immune checkpoints inhibitors have fundamentally changed the management of oncologic patients. These treatments consist of monoclonal antibodies directed against CTLA-4 (cytotoxic T-lymphocyte antigen 4 ... [more ▼]

Immune checkpoints inhibitors have fundamentally changed the management of oncologic patients. These treatments consist of monoclonal antibodies directed against CTLA-4 (cytotoxic T-lymphocyte antigen 4), PD-1 (programmed cell death protein-1) and PD-L1 (one of its ligands). By blocking these receptors or ligands, the antibodies reverse the immune tolerance induced by the cancerous cell on the T-lymphocyte and favour lymphocytic reactivation and anti-tumor activity. Immune tolerance to auto-antigens is maintained with the help of these checkpoints. Targeting them can lead to auto-immune side effects. These latter mostly impact the cutaneous and digestive system, but the endocrine glands are not spared. In this article, we provide monitoring and treatment algorithms for these endocrine immune side effects. An early diagnosis followed by the appropriate treatment would reduce their negative impact on the oncologic care. [less ▲]

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See detailShrinkage of pituitary adenomas with pasireotide
Daly, Adrian ULiege; NECHIFOR - POTORAC, Iulia ULiege; PETROSSIANS, Patrick ULiege et al

in The lancet. Diabetes & endocrinology (2019), 7(7), 509

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