Publications by authors named "Gatto F"

Acromegaly is a rare endocrine disorder caused by excessive growth hormone (GH) production, due, in the vast majority of cases, to the presence of a GH-secreting pituitary tumour. The chronic elevation of GH and the resulting high circulating levels of insulin-like growth factor-1 (IGF-1) cause the characteristic tissue overgrowth and a number of associated comorbidities, including several metabolic changes, such as glucose intolerance and overt diabetes mellitus (DM). Elevated GH concentrations directly attenuate insulin signalling and stimulate lipolysis, decreasing glucose uptake in peripheral tissues, thus leading to the development of impaired glucose tolerance and DM.

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Purpose: A paradoxical increase in GH after oral glucose load (GH-Par) characterizes about one-third of acromegaly patients and is associated with a better response to first-generation somatostatin receptor ligands (fg-SRLs). Pasireotide is typically considered as a second-/third-line treatment. Here, we investigated the predictive role of GH-Par in pasireotide response and adverse event development.

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Background: Tumour-infiltrating T cells can mediate both antitumour immunity and promote tumour progression by creating an immunosuppressive environment. This dual role is especially relevant in hepatocellular carcinoma (HCC), characterised by a unique microenvironment and limited success with current immunotherapy.

Objective: We evaluated T cell responses in patients with advanced HCC by analysing tumours, liver flushes and liver-draining lymph nodes, to understand whether reactive T cell populations could be identified despite the immunosuppressive environment.

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Immunohistochemistry (IHC) of somatostatin receptor subtype 2 can predict response to first-generation somatostatin receptor ligands (fg-SRLs) in acromegaly. Recently, we validated an open-source digital image analysis (DIA) to quantify somatostatin receptor subtype 2 (SSTR2) expression. We aimed to validate the DIA also on somatostatin receptor subtype 5 (SSTR5) in a new cohort of growth hormone (GH)-secreting pituitary tumors, with IHC performed in a different laboratory, and to correlate fg-SRL response with SSTs expression.

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Article Synopsis
  • * A new method utilizing ultra-high-performance liquid chromatography coupled with triple-quadrupole mass spectrometry (UHPLC-MS/MS) allows for efficient GAG extraction and quantification, processing up to 82 samples in one run.
  • * This streamlined process can be completed in approximately 1.5 days, fits standard work shifts, and is precise enough to use GAGs as reliable biomarkers, although it requires specialized knowledge in UHPLC-MS/MS.
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  • Duchenne muscular dystrophy (DMD) is a progressive genetic disorder that currently has no cure, and its management relies on physiotherapy and medications to slow progression.
  • Gene therapy presents a promising treatment option but requires a well-organized delivery system, such as the hub-and-spoke model, to effectively support DMD patients in Italy.
  • A study mapped existing DMD centers in Italy, evaluated their readiness for gene therapy, and identified areas for improvement, ultimately proposing a flexible organizational model to enhance patient care.
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  • Acromegaly, a condition caused by excessive growth hormone and IGF-1, negatively affects patients' quality of life and is conventionally treated with healthcare-administered therapies, while CAM2029 offers a self-administered option with better convenience and storage.
  • A 24-week phase 3 trial involving 72 patients assessed the effectiveness of CAM2029 compared to placebo, focusing on the control of IGF-1 levels and GH.
  • Results at Week 22/24 showed that CAM2029 significantly outperformed placebo in controlling IGF-1 and GH levels, leading to improved symptoms, quality of life, and patient satisfaction.
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We aimed to investigate the use of free glycosaminoglycan profiles (GAGomes) and cfDNA in plasma to differentiate between lung cancer and benign lung disease, in a cohort of 113 patients initially suspected of lung cancer. GAGomes were analyzed in all samples using the MIRAM Free Glycosaminoglycan Kit with ultra-high-performance liquid chromatography and electrospray ionization triple quadrupole mass spectrometry. In a subset of samples, cfDNA concentration and NGS-data was available.

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Introduction: The greater predisposition to infections, as well as the possibility of a worse response to treatment, can lead to the excessive use of antimicrobials among cancer patients. C-reactive protein (CRP) has gained prominence as a tool for monitoring therapeutic responses and reducing the duration of antibiotic therapy; however, few studies have analyzed this protein in cancer patient populations. We hypothesize that cancer patients with a good response to antibiotic therapy show a faster decline in serum CRP levels, which would allow us to identify candidates for short-course treatments.

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Background And Objective: Screening for bladder cancer (BCa) could reduce mortality via early detection of early-stage high-grade (Ta/T1 N0 M0 grade 2-3) disease. Noninvasive biomarkers could aid in screening, but current markers lack the specificity required. The urinary free glycosaminoglycan profile (GAGome) is a promising biomarker for early detection of BCa metabolism.

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  • Thrombotic microangiopathy (TMA) has recently been linked to adeno-associated virus (AAV)-based gene therapy, characterized by serious blood clotting and low platelet levels, yet its causes and classification remain unclear.
  • The review highlights the need for identifying TMA risk factors and discusses the need for safety improvements in AAV-based gene therapy, while also separating its mechanisms from similar conditions related to the adenovirus COVID-19 vaccine.
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Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder primarily affecting males, caused by mutations in the dystrophin gene. The absence of dystrophin protein leads to progressive skeletal muscle degeneration. Recent advances in the therapeutic landscape underscore the need to identify appropriate outcome measures to assess treatment efficacy in ambulant and non-ambulant DMD patients, across clinical and research settings.

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Purpose: The impact of GH/IGF-1 levels on skeletal muscle in acromegaly is still controversial. Temporal (TMT) and masseter muscle (MMT) thickness has been recently demonstrated as a reliable measure of muscle mass. We aimed to investigate the relationship between TMT, MMT and clinical/biochemical characteristics in patients with acromegaly.

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Background: The challenge of addressing obesity persists in healthcare, necessitating nuanced approaches and personalized strategies. This study aims to evaluate the effects of diverse therapeutic interventions on anthropometric and biochemical parameters in individuals with overweight and obesity within a real-world clinical context.

Methods: A retrospective analysis was conducted on 192 patients (141 females, 51 males) aged 18 to 75, with a BMI ranging from 25 to 30 (14.

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Article Synopsis
  • Acromegaly is a rare disease caused mainly by a growth hormone-secreting pituitary tumor, leading to insulin resistance and diabetes in about one-third of patients.
  • The growth hormone’s effects result in insulin signaling issues and decreased glucose uptake, occurring even in patients who are not obese.
  • There's a significant risk of cardiovascular problems among these patients, highlighting the need for better diabetes management strategies specific to acromegaly, which currently lack comprehensive research.
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Summary: The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history.

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Background: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE).

Objective: The aim was to evaluate the current management of new cases of CS with a focus on VTE and thromboprophylaxis.

Design And Methods: A survey was conducted within those that report in the electronic reporting tool (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG's) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 to July 2022.

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Background: Human chorionic gonadotropin (hCG)-induced hyperthyroidism is a rare paraneoplastic syndrome observed in non-seminomatous testicular germ cell tumors, due to a cross-reaction between the β-subunit of hCG with the thyroid-stimulating hormone receptor. The precise prevalence of this paraneoplastic phenomenon is unclear as, in the majority of cases, hyperthyroidism remains subclinical.

Case Presentation: Here, we present two cases of advanced metastatic non-seminomatous testicular germ cell tumors where patients exhibited signs and symptoms of thyrotoxicosis at primary diagnosis due to excessive serum β-hCG elevation, with complete remission of symptomatology after the start of oncological treatments and no signs of relapse at the time of publication of this report.

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Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations result in different phenotypes and disease severity. Understanding genotype/phenotype correlations is essential to optimize clinical care, as mutation-specific therapies and innovative therapeutic approaches are becoming available.

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Context: Patients with acromegaly are characterized by chronic exposure to high growth hormone (GH) and insulin-like growth factor-1 levels, known for their anabolic effect on skeletal muscle. Therefore, an increased skeletal muscle mass could be hypothesized in these individuals. Herein, we have performed a systematic revision of published evidence regarding skeletal muscle mass, quality, and performance in patients with acromegaly.

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Article Synopsis
  • * A case study reports on a 30-year-old woman with congenital brain defect (corpus callosum agenesis) and chronic hyponatremia, characterized by dizziness and cognitive issues, who was diagnosed with SIAD after ruling out other causes.
  • * Treatment with tolvaptan, a medication that helps correct hyponatremia by promoting water excretion, was initiated and adjusted in dosage, ultimately leading to improvement in her serum sodium levels. *
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Somatostatin receptors (SSTs) are widely expressed in pituitary tumors and neuroendocrine neoplasms (NENs) of different origins, i.e. the gastrointestinal tract and the thorax (lungs and thymus), thus representing a well-established target for medical treatment with SST ligands (SRLs).

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  • Endogenous Cushing's syndrome is a condition caused by excessive glucocorticoid secretion, leading to various health issues and a higher risk of mortality, even with treatment.
  • Recent advances in understanding molecular mechanisms and genetic factors have improved diagnosis and treatments, but managing the syndrome remains complex.
  • Surgery is the primary treatment option, but new medications have emerged; ongoing comorbidities can still affect patients' quality of life, highlighting the need for early diagnosis and effective management strategies.
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