MMG PUBLICATIONS

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Results: 3220  publications found.

Picard, C.  et al. 2022

Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.

Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has...
Virchows Arch - issue: 4 - volume: 481 - pages: 665-669.


Maillard, P.  et al. 2022

Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

OBJECTIVE: γ-Aminobutyric acid (GABA)(A) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming...
Epilepsia - issue: 10 - volume: 63 - pages: 2519-2533.


Sahakian, N.  et al. 2022

Real-life clinical impact of a five-tiered classification of pituitary tumors.

INTRODUCTION: Usually benigns, pituitary tumors (PT) can be invasive and aggressive with propensity to progress and/or recur. Trouillas's clinicopathological classification attempts to predict the...
Eur J Endocrinol - issue: - volume: - pages: EJE-22-0812.


Jensen, LR.  et al. 2022

Somatostatin analogues in treatment-refractory meningioma: a systematic review with meta-analysis of individual patient data.

Treatment-refractory meningiomas have a dismal prognosis and limited treatment options. Meningiomas express high-densities of somatostatin receptors (SSTR), thus potentially susceptible to...
Neurosurg Rev - issue: 5 - volume: 45 - pages: 3067-3081.


Castinetti, F.  et al. 2022

Cushing's disease: role of preoperative and primary medical therapy.

Transsphenoidal surgery is the first-line treatment for Cushing's disease. However, some situations may require the use of a primary medical treatment, such as in patients with severe...
Pituitary - issue: 5 - volume: 25 - pages: 737-739.


Goren, S.  et al. 2022

Diagnostic Rechallenge with (18)F-FCH PET/CT Often Allows Minimally Invasive Parathyroidectomy While Maintaining Exceptional Cure Rates.

BACKGROUND: Minimally invasive parathyroidectomy (MIP) has gained acceptance as the preferred surgical procedure for management of primary hyperparathyroidism (pHPT). Appropriate selection of...
World J Surg - issue: 10 - volume: 46 - pages: 2409-2415.


Lagarde, A.  et al. 2022

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported because...
J Clin Endocrinol Metab - issue: 10 - volume: 107 - pages: e4154-e4158.


Ilie, MD.  et al. 2022

Predictive factors of somatostatin receptor ligand response in acromegaly - a prospective study.

CONTEXT: Somatostatin receptor ligands (SRLs) are the cornerstone medical treatments for acromegaly, however many patients remain unresponsive to SRLs. Well-established predictive markers of response...
J Clin Endocrinol Metab - issue: - volume: - pages: dgac512.


Castinetti, F.  et al. 2022

IS DESMOPRESSIN USEFUL IN THE EVALUATION OF CUSHING'S SYNDROME?

The desmopressin test was first described 30 years ago. Based on the differential secretagogue properties of desmopressin on ACTH release between normal and corticotroph tumor cells, this test was...
J Clin Endocrinol Metab - issue: - volume: - pages: dgac533.


Mondielli, G.  et al. 2022

Co-Targeting MAP Kinase and Pi3K-Akt-mTOR Pathways in Meningioma: Preclinical Study of Alpelisib and Trametinib.

Recurrent or high-grade meningiomas are an unmet medical need. Recently, we demonstrated that targeting mTOR by everolimus was relevant both in vitro and in humans. However, everolimus induces an AKT...
Cancers (Basel) - issue: 18 - volume: 14 - pages: .


Darsaut, TE.  et al. 2022

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial.

OBJECTIVE: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The...
J Neurosurg - issue: - volume: - pages: 1-9.


Pivonello, R.  et al. 2022

Levoketoconazole in the treatment of patients with endogenous Cushing's syndrome: a double-blind, placebo-controlled, randomized withdrawal study (LOGICS).

PURPOSE: The efficacy of levoketoconazole for endogenous Cushing's syndrome was demonstrated in a phase 3, open-label study (SONICS). This study (LOGICS) evaluated drug-specificity of cortisol...
Pituitary - issue: - volume: - pages: .


Albarel, F.  et al. 2022

Preoperative Medical Treatment for Patients With Acromegaly: Yes or No?

Transsphenoidal surgery is the first-line treatment for acromegaly. However, several factors can modify surgical remission rates, such as the initial hormone levels, the size and invasiveness of the...
J Endocr Soc - issue: 9 - volume: 6 - pages: bvac114.


Bando, H.  et al. 2022

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: - volume: - pages: ddac192.


Cuny, T.  et al. 2022

The Challenging Management of Craniopharyngiomas in Adults: Time for a Reappraisal?

Craniopharyngiomas (CPs) are rare tumors of the skull base, developing near the pituitary gland and hypothalamus and responsible for severe hormonal deficiencies and an overall increase in mortality...
Cancers (Basel) - issue: 15 - volume: 14 - pages: .


Salgues, B.  et al. 2022

Somatostatin Receptor Theranostics for Refractory Meningiomas.

Somatostatin receptor (SSTR)-targeted peptide receptor radionuclide therapy (PRRT) represents a promising approach for treatment-refractory meningiomas progressing after surgery and radiotherapy. The...
Curr Oncol - issue: 8 - volume: 29 - pages: 5550-5565.


Castinetti, F.  et al. 2022

Medical management of Cushing's disease: When and how?

Transsphenoidal surgery is the first-line treatment of Cushing's disease. However, medical treatment can be given in a high proportion of patients with this rare condition. This is especially the...
J Neuroendocrinol - issue: 8 - volume: 34 - pages: e13120.


de la Fouchardiere, A.  et al. 2022

Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.

Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the...
Am J Surg Pathol - issue: 8 - volume: 46 - pages: 1106-1115.


Ben Aim, L.  et al. 2022

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: 8 - volume: 59 - pages: 785-792.


Raverot, V.  et al. 2022

Prolactin immunoassay: does the high-dose hook effect still exist?

PURPOSE: Measurement of prolactin in clinical laboratories is an important component in the management of patients with pituitary adenoma. Prolactin measurement is known to be sensitive to the...
Pituitary - issue: 4 - volume: 25 - pages: 653-657.