Fleseriu, M. et al. 2022 Osilodrostat for the treatment of Cushing's disease: efficacy, stability, and persistence - Authors' reply. Lancet Diabetes Endocrinol - issue: 6 - volume: 10 - pages: 385-387.
Coppin, L. et al. 2022 Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling? MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of... Eur J Endocrinol - issue: 1 - volume: 187 - pages: K1-K6.
Cuny, T. et al. 2022 Letter to the Editor From Cuny et al: "Correlation of Preoperative Imaging Findings and Parathyroidectomy Outcomes Support NICE 2019 Guidance". J Clin Endocrinol Metab - issue: 6 - volume: 107 - pages: e2642-e2643.
Chanez, B. et al. 2022 Genomic analysis of paired IDHwt glioblastomas reveals recurrent alterations of MPDZ at relapse after radiotherapy and chemotherapy. PURPOSE: We aimed to identify genomic drivers of glioblastoma inevitable recurrence. METHODS: Ten pairs of initial and recurrent frozen IDHwt glioblastoma samples were screened by CGH Array. Next... J Neurol Sci - issue: - volume: 436 - pages: 120207.
Jaouadi, H. et al. 2022 Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report... J Hum Genet - issue: 67 - volume: 9 - pages: 515-518.
Jaouadi, H. et al. 2022 Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants. Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is... Int J Mol Sci - issue: 9 - volume: 23 - pages: 5205.
Mennetrey, C. et al. 2022 Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease. CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to... J Clin Endocrinol Metab - issue: 5 - volume: 107 - pages: e2056-e2064.
Cointe, S. et al. 2022 Granulocyte microvesicles with a high plasmin generation capacity promote clot lysis and improve outcome in septic shock. Microvesicles (MVs) have previously been shown to exert profibrinolytic capacity, which is increased in patients with septic shock (SS) with a favorable outcome. We, therefore, hypothesized that the... Blood - issue: 15 - volume: 139 - pages: 2377-2391.
Lescroart, F. et al. 2022 Single Cell Approaches to Understand the Earliest Steps in Heart Development Purpose of review: Cardiac progenitors are the building blocks of the heart. Our knowledge, on how these progenitors build the heart, has considerably increased over the last two decades with the... Curr Cardiol Rep - issue: - volume: - pages: .
Tabarin, A. et al. 2022 Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome. Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the... Ann Endocrinol (Paris) - issue: 2 - volume: 83 - pages: 119-141.
Bouvier, C. et al. 2022 [Soft tissue tumours with FN1 (Fibronectin 1) fusion gene]. Translocations involving FN1 gene have been described in several tumours, which share the presence of a cartilaginous matrix with or without calcifications and a good prognosis. They encompass: soft... Ann Pathol - issue: 3 - volume: 42 - pages: 242-248.
Rouen, A. et al. 2022 Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families. OBJECTIVE: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). DESIGN:... Fertil Steril - issue: 4 - volume: 117 - pages: 843-853.
Aouchiche, K. et al. 2022 Teriparatide administration by the Omnipod pump: preliminary experience from two cases with refractory hypoparathyroidism. CONTEXT: Hypoparathyroidism (hypoPTH) in adults is mainly due to total thyroidectomy. Conventional therapies (calcium, active vitamin D) can fail to normalize calcemia, expose the patient to... Endocrine - issue: 1 - volume: 76 - pages: 179-188.
Castinetti, F. et al. 2022 Controversies about the systematic preoperative pharmacological treatment before pheochromocytoma or paraganglioma surgery. The question of systematic use of a pharmacological treatment before surgery in patients diagnosed with pheochromocytoma and paraganglioma (PPGL) remains highly controversial. While recent guidelines... Eur J Endocrinol - issue: 5 - volume: 186 - pages: D17-D24.
Molines, E. et al. 2022 [BRAF mutation evolution in melanoma: Myth or reality?]. Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated... Ann Pathol - issue: 2 - volume: 42 - pages: 113-118.
Jaouadi, H. et al. 2022 Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt... Clin Case Rep - issue: 10 - volume: 2 - pages: e05339.
Sahakian, N. et al. 2022 Current and Emerging Medical Therapies in Pituitary Tumors. Pituitary tumors (PT) represent in, the majority of cases, benign tumors for which surgical treatment still remains, except for prolactin-secreting PT, the first-line therapeutic option. Nonetheless,... J Clin Med - issue: 4 - volume: 11 - pages: .
Lasbleiz, A. et al. 2022 Familial hypocalciuric hypercalcemia: the challenge of diagnosis. Endocrine - issue: 2 - volume: 75 - pages: 646-649.
d'Artigues, J. et al. 2022 Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts. PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC... Pituitary - issue: 1 - volume: 25 - pages: 191-200.
Gaudy-Marqueste, C. et al. 2022 Molecular characterization of fast-growing melanomas. BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high... J Am Acad Dermatol - issue: 2 - volume: 86 - pages: 312-321.