Publications by authors named "De Amici Mara"

Background: Acute neuropsychiatric disorders are heterogeneous conditions resulting from interaction between genetic and environmental features. Among these, post infectious forms like Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) are common. Preclinical studies suggest a role of CNS T-helper-17/interleukin-17 (IL-17) inflammatory mediated response in the pathogenesis of these disorders.

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Endothelin-1 (ET-1) and transforming growth factor-β (TGF-β) play a pivotal role in the pathophysiology and vascular remodeling of chronic thromboembolic pulmonary hypertension (CTEPH) which is an under-diagnosed complication of acute pulmonary embolism (PE). Currently, pulmonary endarterectomy (PEA) is still the treatment of choice for selected patients suffering from CTEPH. The aim of this study was to evaluate the preoperative and postoperative circulating levels of ET-1 and TGF-β in subjects affected by CTEPH undergoing successful surgical treatment by PEA.

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Article Synopsis
  • * A study conducted at a pediatric clinic analyzed data from children hospitalized for iGAS infections in 2023, revealing clinical patterns and groundbreaking insights into the infections.
  • * Between 2016 and 2023, the number of GAS infections remained relatively stable, but 2023 saw a significant increase in pediatric cases, with common symptoms including high fever, tachycardia, and vomiting; specific lab results were also noted.
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Background: CLAD (Chronic Lung Allograft Dysfunction) remains a serious complication following lung transplantation. Some evidence shows that portions of Extracorporeal Photopheresis (ECP)-treated patients improve/stabilize their graft function. In spite of that, data concerning molecular mechanisms are still lacking.

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We report the first case of significant fetal myocardial involvement associated with maternal SARS-CoV-2 infection, in which restoration of cardiac function at birth was noted. The demonstration of previous infection was supported by the quantification of humoral response in child and mother, in particular the presence of anti-N antibodies and through the detection of specific antibodies against the BA.4/5 variant.

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Rationale: Whole lung lavage (WLL) is a widely accepted palliative treatment for autoimmune pulmonary alveolar proteinosis (aPAP) but does not correct myeloid cell dysfunction or reverse the pathological accumulation of surfactant. In contrast, inhaled recombinant granulocyte-macrophage colony-stimulating factor (rGM-CSF) is a promising pharmacological approach that restores alveolar macrophage functions including surfactant clearance. Here, we evaluate WLL followed by inhaled rGM-CSF (sargramostim) as therapy of aPAP.

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Background: A few studies assessed the clinical and immunological features of selective IgM deficiency (SIgMD), especially in the pediatric age. We aimed to characterize the clinical and immunological phenotypes of a cohort of pediatric patients with SIgMD according to the different diagnostic criteria available.

Methods: In this multicenter study, we evaluated pediatric SIgMD patients diagnosed at the Pediatric Clinic in Pavia, Italy, or through the Italian Primary Immunodeficiency NETwork (IPINET) and monitored changes in their diagnosis over a time frame that ranges from several months to several years.

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  • - Pediatric severe therapy-resistant asthma (STRA) is a rare but complex condition that differs from adult asthma, and its causes are not well understood, resulting in high demands on healthcare resources.
  • - Recent studies over the past decade have focused on identifying different subtypes (endotypes) of pediatric STRA using advanced lung examination techniques, and the review discusses findings, limitations, and future directions in this research area.
  • - Future research should emphasize distinguishing between STRA types in prepubescent and pubescent patients, developing early treatments to prevent lung damage, and improving the understanding of inflammation dynamics during therapy to optimize individualized treatment strategies.
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  • - The study evaluated the effectiveness of the basophil activation test (BAT) and component-resolved diagnostics as alternatives to the oral food challenge (OFC) for diagnosing egg allergy in children, which are traditionally time-consuming and risky.
  • - Out of 86 children suspected of having an egg allergy, 22 reacted during OFC, with only one case of anaphylaxis, and the BAT was able to successfully differentiate between true allergy and simple sensitization in most cases.
  • - Implementing the BAT can potentially reduce the number of necessary OFCs by 40.9% in children with low risk for severe reactions, making it a useful second-line diagnostic tool alongside specific immunoglobulin E (sIgE) testing
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  • Eosinophilic dermatosis of hematologic malignancy (EDHM) is believed to be caused by immune dysregulation rather than just insect bites, but its overall impact on prognosis remains uncertain.
  • A study evaluated 15 oncohematological patients diagnosed with EDHM, revealing varied skin lesions and a connection to chemotherapy treatments and potential insect bites.
  • Histopathological similarities to insect bites were noted, suggesting a link between EDHM and more aggressive forms of hematologic disease.
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative pathogen of coronavirus disease 19 (COVID-19). COVID-19 can manifest with a heterogenous spectrum of disease severity, from mild upper airways infection to severe interstitial pneumonia and devastating acute respiratory distress syndrome (ARDS). SARS-CoV-2 infection may induce an over activation of the immune system and the release of high concentrations of pro-inflammatory cytokines, leading to a "cytokine storm", a recognized pathogenetic mechanism in the genesis of SARS-CoV-2-induced lung disease.

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  • Pediatric Mastocytosis is a rare disease that leads to an excess of mast cells, causing symptoms like itching and fatigue, particularly affecting children with Systemic Mastocytosis who are at high risk for severe allergic reactions.
  • A child suffering from severe Systemic Mastocytosis experienced rapid improvement after being treated with Omalizumab, an anti-IgE monoclonal antibody, allowing for the withdrawal of steroid treatments and other medications.
  • Omalizumab proved to be a highly effective and safe option for managing symptoms in children unresponsive to conventional therapies, demonstrating significant benefits in quality of life.
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The interactions between aromatase inhibitors (AI) in breast cancer (BC) and gut microbiota (GM) have not been completely established yet. The aim of the study is to evaluate the bio-diversity of GM and the relationship between GM, inflammation and tumor-infiltrating lymphocytes (TILs) in postmenopausal women with BC during adjuvant AI treatment compared to women with disease relapse during or after one year of AI therapy ("endocrine-resistant"). We conducted a monocenter observational case-control study.

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Research Question: Diagnosis of male infertility is essentially based on the evaluation of semen quality (sperm concentration, motility, viability, and morphology). However, there is a lack of knowledge about possible molecules used as candidates for the early identification of male infertility risk. Calprotectin is a biological marker for inflammation, measured prevalently in stool specimens, widely used to discriminate between inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS), and for the subsequent monitoring of gastrointestinal diseases' development.

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Bullous pemphigoid (BP) is the most common autoimmune blistering skin disease, characterized by the development of autoantibodies against hemidesmosomal components BP180 and BP230. The mainstay of therapy is topical and systemic corticosteroids (CS) and immunosuppressors. As this pathology mainly involves the elderly, subjects often have numerous comorbidities that influence the clinical management.

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Background: Anaphylaxis is a steadily increasing global problem defined as an acute hypersensitivity multisystem reaction that is potentially fatal. In the pediatric age, the leading cause is food. In other allergic diseases, intrinsic heterogeneity has been reported in the clinical presentation, severity, and triggers of anaphylaxis.

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Background: Positive microbiological fungal culture from bronchoalveolar-lavage-fluid (BAL) for Aspergillus or tissue biopsy and the detection of high levels of Aspergillus Galactomannan (GM) are commonly considered standard for diagnosing Invasive Pulmonary Aspergillosis (IPA). However, Aspergillus infection induces both cellular and humoral immune responses, characterized by the production of specific immunoglobulins, which can be easily detected in serum and accurately measured. This study hypothesized that Aspergillus-specific IgE, IgG, including IgG4, assays could be adopted as a rapid preliminary screening tool in patients with suspected Aspergillus-related lung disease in order to help in the identification of patients who require more invasive procedures (bronchoscopy, biopsy).

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The poor availability of kidney for transplantation has led to a search for new strategies to increase the donor pool. The main option is the use of organs from extended criteria donors. We evaluated the effects of hypothermic oxygenated perfusion (HOPE) with and without extracellular vesicles (EV) derived from mesenchymal stromal cells on ischemic/reperfusion injury of marginal kidneys unsuitable for transplantation.

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Eosinophilic gastrointestinal disorders (EGIDs) represent an emerging group of heterogeneous diseases associated with failure to thrive, weight loss, protein-losing enteropathy, and malnutrition. To date, no studies have assessed the nutritional status, vitamin D, and other vitamin levels in patients with non-esophageal EGIDs. We aim to evaluate the nutritional profile of a cohort of children and adolescents with EGIDs.

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Eosinophilic esophagitis (EoE) is an emerging allergen-mediated disease characterized by symptoms of esophageal dysfunction and eosinophilic inflammation. EoE diagnosis requires 15 eosinophils per high power field (eos/HPF) in tissue biopsies endoscopically obtained. The need for several endoscopies to monitoring the disease and the absence of validated non-invasive biomarkers or tools are the main reasons for the significant burden on affected patients and the healthcare system.

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Background: Chronic cough is a common symptom, addressed in the clinical setting by empirical treatment together with some laboratory investigations. The aim of the present study was to investigate the value of testing eosinophilic cationic protein (ECP) serum levels combined with other diagnostic procedures and empirical treatment in the diagnostic workup of chronic cough.

Methods: In this study, we evaluated 194 patients with chronic cough.

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The release of neutrophil extracellular traps (NETs), a process termed NETosis, avoids pathogen spread but may cause tissue injury. NETs have been found in severe COVID-19 patients, but their role in disease development is still unknown. The aim of this study is to assess the capacity of NETs to drive epithelial-mesenchymal transition (EMT) of lung epithelial cells and to analyze the involvement of NETs in COVID-19.

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