Search Results - "Del Sindaco, Giulia"
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Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism
Published in The journal of clinical endocrinology and metabolism (01-11-2023)“…Abstract Background Pseudohypoparathyroidism (PHP) and related disorders newly referred to as inactivating PTH/PTHrP signaling disorders (iPPSD) are rare…”
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Adrenal Insufficiency at the Time of COVID-19: A Retrospective Study in Patients Referring to a Tertiary Center
Published in The journal of clinical endocrinology and metabolism (08-03-2021)“…Abstract Context Coronavirus disease 2019 (COVID-19) represents a global health emergency, and infected patients with chronic diseases often present with a…”
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Treatment of Acromegalic Osteopathy in Real-life Clinical Practice: The BAAC (Bone Active Drugs in Acromegaly) Study
Published in The journal of clinical endocrinology and metabolism (01-09-2020)“…Vertebral fractures (VFs) are a frequent complication of acromegaly, but no studies have been so far published on effectiveness of antiosteoporotic drugs in…”
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Clinical and hormonal findings in patients presenting with high IGF-1 and growth hormone suppression after oral glucose load: a retrospective cohort study
Published in European journal of endocrinology (01-08-2021)“…Objective High insulin-like growth factor 1 (IGF-1) and unsuppressed growth hormone (GH) levels after glucose load confirm the diagnosis of acromegaly…”
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Recovery of Adrenal Function after Pituitary Surgery in Patients with Cushing Disease: Persistent Remission or Recurrence?
Published in Neuroendocrinology (01-04-2019)“…Cushing disease (CD) represents the principal cause of endogenous hypercortisolism. The first-line therapy of CD is surgical removal of the ACTH-secreting…”
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Targeted silencing of GNAS in a human model of osteoprogenitor cells results in the deregulation of the osteogenic differentiation program
Published in Frontiers in endocrinology (Lausanne) (17-05-2024)“…The dysregulation of cell fate toward osteoprecursor cells associated with most -based disorders may lead to episodic extraskeletal or ectopic bone formation…”
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Application of calcium-to-phosphorus (Ca/P) ratio in the diagnosis of pseudohypoparathyroidism: another piece in the puzzle of diagnosis of Ca-P metabolism disorders
Published in Frontiers in endocrinology (Lausanne) (03-10-2023)“…Objective The serum calcium (Ca)–to–phosphorus (P) ratio has been proposed to identify patients with primary hyperparathyroidism and chronic hypoparathyroidism…”
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Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
Published in Frontiers in endocrinology (Lausanne) (16-07-2021)“…Aneurysmal bone cysts (ABCs) are rare benign pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding…”
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A Multicenter Cohort Study in Patients With Primary Empty Sella: Hormonal and Neuroradiological Features Over a Long Follow-Up
Published in Frontiers in endocrinology (Lausanne) (23-06-2022)“…Objective primary empty sella (PES) represents a frequent finding, but data on hormonal alterations are heterogeneous, and its natural history is still…”
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Published in Genome medicine (13-09-2024)“…X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated…”
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C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature
Published in Journal of clinical medicine (01-12-2023)“…Hypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from…”
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High prevalence of hypercalcitoninemia in a large cohort of adult and paediatric patients with PTH resistance syndromes
Published in The journal of clinical endocrinology and metabolism (28-06-2024)“…Pseudohypoparathyroidism (PHP) refers to a group of rare hereditary disorders associated with resistance to parathormone (PTH) and other hormones now termed…”
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Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
Published in European journal of endocrinology (20-07-2023)“…Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid hormone (PTH)/PTHrP-signaling…”
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Cushing's disease: a prospective case-control study of health-related quality of life and cognitive status before and after surgery
Published in Journal of neurosurgery (01-12-2020)“…Some studies have highlighted psychological and neuropsychological difficulties and a potential reduction in health-related quality of life (HRQOL) in patients…”
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Adrenal Insufficiency at the Time of COVID-19: A Retrospective Study in Patients Referring to a Tertiary Center
Published in The journal of clinical endocrinology and metabolism (08-03-2021)“…Coronavirus disease 2019 (COVID-19) represents a global health emergency, and infected patients with chronic diseases often present with a severe impairment…”
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