Publications by authors named "Giovanna Mantovani"

Purpose: This review aims to collect and examine recent research findings regarding hypopituitarism and COVID-19, focusing on the virus's impact on the pituitary gland and the outcomes for infected patients with hormonal deficiencies.

Methods: Literature review using PubMed (pubmed.ncbi.

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A strict association exists between mood disorders and endogenous hypercortisolism, namely Cushing's syndrome (CS). Indeed, CS is characterized by a wide range of mood disorders, such as major depression, generalized anxiety, panic disorders, bipolar disorders up to psychosis, with major depression being the most frequent, with a prevalence of 50-80%, and potentially representing the clinical onset of disease. Despite this observation, the exact prevalence of hypercortisolism in patients with mood disorders is unknown and who/how to screen for endogenous hypercortisolism among patients with mood disorders is still unclear.

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  • Filamin A (FLNA) is found at lower levels in adrenocortical carcinomas (ACC) compared to adenomas (ACA), and its presence is linked to less aggressive tumor behavior due to its role in regulating IGF1R signaling.
  • The study investigated the expression of Wee1 kinase in ACC and how it is influenced by FLNA, revealing increased Wee1 and decreased FLNA proteins in ACC, along with insights into the effects of the Wee1 inhibitor AZD1775.
  • Findings indicate that FLNA promotes the degradation of Wee1, and that low FLNA levels in ACC lead to heightened Wee1, suggesting that targeting Wee1 with inhibitors could be a promising treatment strategy for FLNA-deficient
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Summary: Assessment of hormone concentrations can be subjected to laboratory pitfalls. Macro-hormones are hormone-autoantibody complexes which are cleared slowly from circulation and cause a false elevation in hormones' concentrations. Macro-prolactin and macro-thyroid-stimulating hormone (TSH) are most frequently encountered while macro-follicle-stimulating hormone (FSH) has been rarely reported.

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  • Atypical parathyroid tumors (aPT) and parathyroid carcinoma (PC) are very rare types of tumors in the parathyroid glands, making up less than 2% of all such tumors.
  • The study looked at patients with aPT and PC to see how they compare in terms of medical features and problems.
  • Both types showed similar symptoms, but PCs had more kidney issues and a higher chance of the disease coming back after surgery, leading to plans for better tracking and study of these tumors in Italy and Europe.
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  • - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
  • - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
  • - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
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  • Pseudohypoparathyroidism (PHP) is a rare hereditary disorder resulting in hormone resistance, with the study focusing on hypercalcitoninemia in affected patients.
  • A retrospective analysis was conducted on 88 children and 43 adults from European endocrinology centers, revealing high rates of hypercalcitoninemia (65.9% in children, 53.5% in adults) with stable calcitonin levels over time and no correlation with parathormone levels.
  • The study highlights that hypercalcitoninemia is frequently seen in PHP/iPPSD patients, particularly in specific subtypes, and suggests these patients have a distinctive response to calcium stimulation tests compared to healthy individuals and those with medullary thyroid
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Introduction: The dysregulation of cell fate toward osteoprecursor cells associated with most -based disorders may lead to episodic extraskeletal or ectopic bone formation in subcutaneous tissues. The bony lesion distribution suggests the involvement of abnormal differentiation of mesenchymal stem cells (MSCs) and/or more committed precursor cells. Data from transgenic mice support the concept that is a crucial factor in regulating lineage switching between osteoblasts (OBs) and adipocyte fates.

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Purpose: The bone strain index (BSI) is a marker of bone deformation based on a finite element analysis inferred from dual X-ray absorptiometry (DXA) scans, that has been proposed as a predictor of fractures in osteoporosis (i.e., higher BSI indicates a lower bone's resistance to loads with consequent higher risk of fractures).

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Somatostatin receptor ligands (SRLs) with high affinity for somatostatin receptors 2 and 5 (SSTR2 and SSTR5) are poorly efficacious in NF-PitNETs, expressing high levels of SSTR3. ITF2984 is a pan-SSTR ligand with high affinity for SSTR3, able to induce SSTR3 activation and to exert antitumoral activity in the MENX rat model. The aim of this study was to test ITF2984's antiproliferative and proapoptotic effects in NF-PitNET primary cultured cells derived from surgically removed human tumors and to characterize their SSTR expression profile.

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Background: After denosumab (Dmab) discontinuation C-terminal telopeptide (CTX) levels increase, bone mineral density (BMD) decreases and multiple vertebral fractures (FX) may occur with relevant impacts on women's health. A sequential therapy with bisphosphonates is recommended, and the European Calcified Tissue Society (ECTS) proposed repeated zoledronate (ZOL) administrations in patients with persistently high CTX levels, although the efficacy of this schedule is unknown. In this retrospective study, we describe BMD changes and FX rate in 52 patients managed according to the ECTS recommendations.

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There is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet needs of rare disease patients and many pan-European issues in the field, reducing inequities, and significantly increasing accessibility to high-quality healthcare across Europe. ERNs are virtual networks, involving centres and patient representatives with the general scope to facilitate discussion on complex cases requiring highly specialised competences and trained expertise.

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The insulin-like growth factor 2 (IGF2) promotes cell growth by overactivating the IGF system in an autocrine loop in adrenocortical carcinomas (ACCs). The cytoskeleton protein filamin A (FLNA) acts as a repressor of IGF2 mitogenic signalling in ACC cells. The aims of this study were to test FLNA expression by immunohistochemistry in 119 ACCs and 26 adrenocortical adenomas (ACAs) and to evaluate its relationship with clinicopathological features and outcome in ACCs.

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Objectives: Severe deficiency of growth hormone (GHD) of the newborn is a rare but potentially life-threatening disease. GH measured during the first week of life, using dried blood spots (DBS), may offer several advantages. Aim of the study was to estimate the reference values for GH in newborns by a new analytical method using DBS.

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Objective: The serum calcium (Ca)-to-phosphorus (P) ratio has been proposed to identify patients with primary hyperparathyroidism and chronic hypoparathyroidism (HPT), but it has never been tested in pseudohypoparathyroidism (PHP). The aim of this study was to test the performance of Ca/P ratio in PHP diagnosis compared with that in healthy subjects and patients with HPT for differential diagnosis.

Design: A retrospective, cross-sectional, and observational study was carried out.

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Context: Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis.

Objective: The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes.

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  • * Methods: This cross-sectional study was conducted at a specialized care center with 72 participants, measuring various hormonal levels and health conditions, while analyzing genetic variations in blood and adrenal tissue.
  • * Results: Among patients with mild autonomous cortisol secretion, 18.8% had germline ARMC5 mutations, but none were found in patients without such secretion; somatic mutations were also identified in some cases without germline variants. No clear clinical indicators were found to predict these genetic mutations.
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  • Maternal inactivating GNAS mutations cause pseudohypoparathyroidism 1A (PHP1A), leading to growth issues, hormone resistance, and other physical symptoms in affected individuals.
  • A study examined the effects of recombinant human growth hormone (rhGH) on growth in 190 patients, comparing those who received treatment to untreated controls to evaluate height outcomes.
  • Results showed that rhGH significantly improved height in treated patients after 1 and 3 years, highlighting its potential benefits, but further research is needed to ensure long-term safety and effectiveness.
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Cell cytoskeleton proteins are involved in tumor pathogenesis, progression and pharmacological resistance. Filamin A (FLNA) is a large actin-binding protein with both structural and scaffold functions implicated in a variety of cellular processes, including migration, cell adhesion, differentiation, proliferation and transcription. The role of FLNA in cancers has been studied in multiple types of tumors.

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The molecular events underlying the variable effectiveness of dopamine receptor type 2 (DRD2) agonists in pituitary neuroendocrine tumors (PitNETs) are not known. Besides the canonical pathway induced by DRD2 coupling with Gi proteins, the β-arrestin 2 pathway contributes to DRD2's antimitotic effects in PRL- and NF-PitNETs. A promising pharmacological strategy is the use of DRD2-biased agonists that selectively activate only one of these two pathways.

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