Publications by authors named "Cannavo Salvatore"

Article Synopsis
  • - Adulthood growth hormone deficiency (GHD) leads to negative changes in body composition, exercise capacity, cardiovascular function, and metabolism, impacting overall quality of life.
  • - Long-term treatment with recombinant human GH has been shown to improve fracture risk, lipid metabolism, body composition, and quality of life, with minimal side effects at recommended dosages.
  • - Endocrinologists play a crucial role in selecting appropriate candidates for GH therapy, considering their clinical profile, quality of life, and commitment to treatment to ensure effective and safe outcomes.
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Acromegaly and gigantism are rare diseases, usually caused by a growth hormone-secreting pituitary adenoma, recently renamed GH-secreting pituitary neuroendocrine tumor (GH-PitNET). The transsphenoidal approach is the mainstay of treatment, although a non-negligible number of patients require a multimodal approach with neo-adjuvant or adjuvant medical and radiation therapy. Understanding the clinical complexity of acromegaly and gigantism is essential to improve treatment safety and success.

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  • The research investigates the psychological impacts of acromegaly, a rare condition that can lead to anxiety and depression among patients.
  • A systematic review in January 2024 analyzed 55 studies focusing on anxiety, depression, and the potential absence of alexithymia in acromegaly patients, using various medical databases.
  • Findings show that anxiety and depression are prevalent in acromegaly patients, negatively affecting their health-related quality of life (HR-QoL), and highlight the need for early psychological assessment and integrated interventions to improve patient well-being.
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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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  • - Several studies indicate that chemical pollutants can disrupt endocrine functions and play a role in tumor development, particularly increasing instances of acromegaly in polluted regions.
  • - The aryl hydrocarbon receptor (AHR) is linked to both cancer formation and detoxification, and its deregulation may influence pituitary tumors, especially those that secrete growth hormone (GH).
  • - Despite some findings on the relationship between environmental pollutants and GH-secreting pituitary tumors, more research is necessary to clarify how AHR signaling and non-coding RNAs (ncRNAs) interact in this context.
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Purpose: In this in vitro study, we investigated the effects of polychlorinated biphenyls (PCBs) on human thyrocytes, with a focus on the involvement of AhR, a key player in xenobiotic response, and the anti-oxidant Nrf-2/HO-1 pathway.

Methods: Primary cultured thyrocytes were exposed to the dioxin-like congeners PCB118 and PCB126 at 2.5 and 5 µM concentrations.

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  • ACTH-independent Cushing syndrome (CS) is a rare condition in children, often linked to primary pigmented nodular adrenocortical disease (PPNAD), which is commonly associated with Carney complex (CNC), a genetic syndrome caused by mutations in the PRKAR1A gene.
  • A 10-year-old boy presented with severe obesity and poor growth response despite dietary measures, which escalated over 10 months, leading to additional symptoms including hypertension and skin changes.
  • After thorough testing, including imaging and genetic analysis, it was determined that he had ACTH-independent hypercortisolism due to bilateral micronodular adrenal hyperplasia, confirmed by a pathogenic variant in the PRKAR1A
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Purpose: X-linked hypophosphatemia (XLH) is a rare multi-systemic disease characterized by low plasma phosphate levels. The aim of this study was to investigate the annual XLH prevalence and internally evaluate predictive algorithms' application performance for the early diagnosis of XLH.

Methods: The PediaNet database, containing data on more than 400,000 children aged up to 14 years, was used to identify a cohort of XLH patients, which were matched with up to 10 controls by date of birth and gender.

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  • Immune checkpoint inhibitors, used in cancer treatment like metastatic melanoma, are generally better tolerated than traditional chemotherapy but can cause immune-related adverse events (irAEs) affecting various organs, with endocrine disorders being especially common.
  • A 55-year-old woman with Hashimoto's thyroiditis developed severe endocrine issues, including both hyperthyroidism and adrenal insufficiency, after being treated with the immune checkpoint inhibitor pembrolizumab.
  • There is a risk of concurrent autoimmune diseases affecting multiple glands during ICI therapy, resembling autoimmune polyendocrine syndrome type 2, which necessitates close monitoring of hormone levels to prevent serious complications.
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Article Synopsis
  • The study aimed to investigate how various patient, disease, and treatment-related factors affect the likelihood of achieving long-term control of acromegaly, a hormonal disorder.
  • Data from 1546 patients treated with pegvisomant were analyzed over a 10-year period, focusing on baseline IGF-1 levels and other factors through comprehensive statistical analysis.
  • Key findings indicated that lower baseline IGF-1 levels (especially <300 µg/L) were strongly associated with improved long-term control of acromegaly, while factors such as age, sex, BMI, and pegvisomant dosage were not significant predictors.
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Objective: Differentiated thyroid cancer (DTC) is rare in childhood and adolescence although it represents the most frequent endocrine malignancy in this population. DTC includes both papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC). Most pediatric DTCs are PTCs, while FTCs are rare.

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Autoimmune thyroid diseases are on the rise worldwide, and such a rapid increase is mainly driven by environmental factors related to changed lifestyles in "modern" societies. In this context, diet seems to play a crucial role. An unhealthy high-energy diet, rich in animal fat and proteins, salt and refined sugars (the so-called "Western diet") negatively influences the risk of autoimmunity by altering the immune balance and the gut microbiota composition, enhancing oxidative stress and promoting inflammation.

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(1) Background: This paper aims to assess the existence of significant differences between two dietary regimes (omnivorous vs. semi-vegetarian) with reference to some oxidative stress markers (SOD, GPx, TRxR, GR, AGEs, and AOPPs) using non-parametric combination methodology based on a permutation test. (2) Methods: At the endocrinology unit of Messina University Hospital, two hundred subjects were asked to fill out a questionnaire about their dietary habits.

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Introduction: Hypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.

Methods: There were 30 suspected HPP patients recruited from different Italian tertiary cares.

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Purpose: Craniopharyngiomas (CP) are benign tumours of the sellar region. Hypopituitarism, visual deficits, hypothalamic damage with consequent obesity and related increased cardiovascular risk, are complications due to the tumour itself or secondary to treatment strategy. We retrospectively correlated visual field status with clinical, neuroradiological, histopathological features and management strategy, in a single-centre cohort of patients with CP.

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Context: Because of the rarity of adrenocortical cancer (ACC), only a few population-based studies are available, and they reported limited details in the characterization of patients and their treatment.

Objective: To describe in a nationwide cohort the presentation of patients with ACC, treatment strategies, and potential prognostic factors.

Methods: Retrospective analysis of 512 patients with ACC, diagnosed in 12 referral centers in Italy from January 1990 to June 2018.

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Introduction: Despite successful therapy, acromegalic patients have reduced health-related quality of life (HRQoL) compared to healthy controls. Finding predictors of poor HRQoL can be crucial to improving these patients' global health state.  Aim: The primary objective of the study was to find out predictors of HRQoL.

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Objective: Prediction of fragility fractures in Cushing syndrome (CS) is a challenge since dual energy X-ray absorptiometry (DXA) measurement of bone mineral density (BMD) does not capture all the alterations in bone microstructure induced by glucocorticoid excess. In this study we investigated the relationship between trabecular bone score (TBS), bone marrow fat (BMF) and vertebral fractures (VFs) in endogenous CS.

Design: Cross-sectional.

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Immune checkpoint inhibitors (ICIs) have revolutionized the therapeutic landscape of solid tumors. However, although ICIs are better tolerated than conventional chemotherapy, their use is associated with a peculiar toxicity profile, related to the enhancement of the immune response, affecting several organs. Among immune-related adverse events (irAEs), up to 10% involve the endocrine system.

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Background: Oxidative stress has been implicated in the pathogenesis of autoimmune thyroiditis, also referred to as Hashimoto's thyroiditis (HT), and several biomarkers have been measured to evaluate the impact and clinical relevance of oxidative stress in this setting. Recently, advanced glycation end products (AGEs) have been proposed as reliable markers of oxidative stress in HT. In the present study, we investigated the relationship of AGEs with antioxidant paraoxonase (PON-1) activity as potential combined markers of oxidative stress.

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Objective: Acromegaly is associated with somatic disfigurements which impair self-perception of well-being and quality of life. Nowadays, limited data are available on the interplay between hormonal excess and psychological discomfort. The study aimed at investigating the psychological profile, sleep quality, sexual function, cognitive functions, and quality of life in patients with acromegaly.

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Background: Early identification of cervical lymph node (LN) metastases cervical lymph node metastases (CLNM) is crucial in the management of differentiated thyroid cancer differentiated thyroid cancer (DTC) as it influences the indication and the extent of surgery with an impact on the recurrence risk and overall survival. The present review focused on novel sensitive and specific diagnostic techniques, by searching through online databases like MEDLINE and Scopus up to February 2022.

Areas Covered: The techniques identified included contrast-enhanced ultrasound (CEUS), dosage of fragment 21-1 of cytokeratin 19 (CYFRA 21-1) in lymph node fine needle aspiration washout, sentinel LN biopsy (SNB), and artificial intelligence (AI) - deep learning applied to ultrasonography and computed tomography.

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Purpose: Current treatment of acromegaly restores a normal life expectancy in most cases. So, the study of persistent complications affecting patients' quality of life (QoL) is of paramount importance, especially motor disability and depression. In a large cohort of acromegalic patients we aimed at establishing the prevalence of depression, to look for clinical and sociodemographic factors associated with it, and to investigate the respective roles (and interactions) of depression and arthropathy in influencing QoL.

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Article Synopsis
  • Pituitary adenomas (PAs), typically benign, can exhibit aggressive traits like rapid growth and poor treatment response, leading researchers to explore genetic and epigenetic influences on these behaviors.
  • A study analyzed methylation profiles in 21 PA samples and 5 normal pituitary tissues, revealing that nonfunctioning pituitary adenomas (NFPAs) had higher methylation levels compared to growth hormone-secreting tumors (GH-omas), with significant findings in noncoding and intronic regions.
  • Three hypermethylated genes linked to tumor development were identified, and the only major clinicopathological difference was a larger maximum diameter in NFPAs, highlighting the complex epigenetic landscape of pituitary tumors and the need for further research
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