Publications by authors named "Maggio I"

Thrombocytopenia during pregnancy is often thought to be associated with severe bleeding manifestations. Three are the main disorders associated with this condition: gestational thrombocytopenia (GT), immune thrombocytopenia (ITP), and inherited thrombocytopenias (ITs). Reaching the correct diagnosis of this condition has relevant therapeutic and outcome implications.

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  • * Researchers found that 8 patients had autosomal recessive ichthyosis, while others had X-linked ichthyosis, with a total of 24 disease-causing alleles identified, including 8 novel variants.
  • * The findings help enhance early diagnosis and classification of ichthyosis patients, broadening the understanding of the genetic and phenotypic diversity of inherited ichthyosis disorders.
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Objective: Obesity is associated with increased thyroid-stimulating hormone (TSH) in non-pregnant subjects, but this phenomenon has not been fully characterized during pregnancy. Our aim was to evaluate the impact of BMI on first-trimester TSH in a wide cohort of pregnant women with negative anti-thyroperoxidase antibodies (AbTPO) and its implications on uterine artery pulsatility index (UtA-PI), a marker of early placentation.

Methods: The study included 2268 AbTPO-negative pregnant women at their first antenatal visit.

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Introduction: Obesity in pregnancy is associated with adverse long-term consequences both in the mother and in offspring. Maternal obesity induces a metabolic-inflammatory state that could impact on placental function and could mediate the adverse outcomes. The purpose of this study was to compare the major placental histological characteristics of non-diabetic obese women to lean controls, focusing on uncomplicated pregnancies.

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(1) Background: Biliary tract cancers (BTCs) are a heterogeneous group of neoplasms with dismal prognosis and the role of adjuvant chemoradiotherapy in high-risk resected patients is unclear. (2) Methods: We retrospectively analyzed the outcomes of BTC patients who received curative intent surgery with microscopically positive resection margins (R1) and adjuvant chemoradioradiotherapy (CCRT) or chemotherapy (CHT) from January 2001 to December 201. (3) Results: Out of 65 patients who underwent R1 resection, 26 received adjuvant CHT and 39 adjuvant CCRT.

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  • - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
  • - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
  • - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
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Purpose: The impact of mild subclinical hypothyroidism on pregnancy outcomes in TPOAb-negative women is poorly explored. The aim of the present study was the evaluation in a wide cohort of TPOAb-negative pregnant women the role of subclinical hypothyroidism (SCH) on several pregnancy outcomes.

Methods: The study included women aged ≥ 18 years with a singleton pregnancy without known thyroid disease with serum TSH concentration between 0.

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Objectives: The objective of this study was to evaluate the role of pregnancies in the progression from the preclinical phase of autoimmune disorder to a definite rheumatic disease.

Methods: A cohort study of women with symptoms and laboratory findings suggestive for autoimmune disorder were enrolled during the first trimester of pregnancy and followed-up for 5 years with clinical and laboratory assessment. Multinomial logistic regression was used to compute the risk of progression to definite autoimmune disease correcting for confounders.

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Background: This study aims to better understand the causal relationship between COVID-19 stressful events, perceived stress, emotion regulation strategies and anxiety symptoms in Italian women. Specifically, we assumed that: (i) different COVID-19 stressful events can directly or indirectly influence the manifestation of anxiety symptoms; (ii) perceived stress and emotion regulation strategies can mediate the relationship between COVID-19 stressful events and anxiety symptoms.

Participants And Procedure: An online survey was distributed during the Italian mandatory lockdown - between 18 and 28 April 2020 - across the national territory.

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This study aimed to examine the effect of cognitive priming linked to the COVID-19 pandemic, through state anxiety and personal need for structure, on teachers' tendency toward sustainability and teachers' tendency toward a conservative socio-economic vision. We involved a sample of 984 Italian teachers, and by manipulating the saliency of the COVID-19 pandemic, we found that the saliency of the COVID-19 pandemic positively impacted state anxiety and that state anxiety impacted teachers' tendency toward sustainability both directly and indirectly through the mediational role of the personal need for structure. Finally, we found that state anxiety only indirectly through the personal need for structure impacted teachers' tendency toward a conservative socio-economic vision.

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Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed.

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Attitudes of classmates has been considered as one of the major problems in inclusive education, negatively influencing the participation of students with disability in school contexts. The goal of this study was to examine Italian typically developing children's attitudes towards their peers with disabilities. In a sample of 560 elementary school students aged 6 - 11 years old we tested - through multiple regression analysis - the impact of personal and contextual factors, such as sex and age of participants, type of disability of peers with disabilities, experience with peers with disabilities and, in particular, the type of presentation of students with disabilities on attitudes of elementary school students without disability.

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Introduction: The canonical isocitrate dehydrogenase 1 R132 mutation (IDH1 R132) is the most frequent mutation among IDH-mutated gliomas. Non-canonical IDH1 mutations or IDH2 mutations are unusual and their clinical and biological role is still unclear.

Methods: We performed a systematic review and meta-analysis to assess the clinical role of IDH non-canonical mutations.

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Introduction: The field of cancer immunotherapy has achieved great advancements through the application of genetically engineered T cells with chimeric antigen receptors (CAR), that have shown exciting success in eradicating hematologic malignancies and have proved to be safe with promising early signs of antitumoral activity in the treatment of glioblastoma (GBM).

Areas Covered: We discuss the use of CAR T cells in GBM, focusing on limitations and obstacles to advancement, mostly related to toxicities, hostile tumor microenvironment, limited CAR T cells infiltration and persistence, target antigen loss/heterogeneity and inadequate trafficking. Furthermore, we introduce the refined strategies aimed at strengthening CAR T activity and offer insights in to novel immunotherapeutic approaches, such as the potential use of CAR NK or CAR M to optimize anti-tumor effects for GBM management.

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Meningiomas are the most common primary CNS tumors. They are usually benign but can present aggressive behavior in about 20% of cases. The genetic landscape of meningioma is characterized by the presence (in about 60% of cases) or absence of NF2 mutation.

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An online group of career counseling for unemployed young adults during the COVID-19 pandemic was developed. Twelve participants were involved in online group career counseling intervention, based on the Life Design for an inclusive and sustainable future. Results indicated at post-test on increased scores on career adaptability, resilience, future orientation, and propensity to identify inclusive and sustainable actions for the future than pre-test.

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The study was set up as a first exploration of the predictive role of human service professionals' (i.e., teachers and healthcare professionals) psychological capital (PC) in their perception of work experiences and some core aspects of their own work, such as their efficacy to instill positive resources in their clients, the positive representation of their work and of the results that they can obtain, and positive beliefs about their career growth.

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Antiangiogenic agents can induce a distinct MRI pattern in glioblastoma, characterized by a decrease in the contrast enhancement on T1-weighted images and a simultaneous hyperintensity on T2-weighted or fluid-attenuated inversion recovery images.

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Introduction: Glioblastoma is a highly aggressive brain tumor with an extremely poor prognosis. Genetic characterization of this tumor has identified alterations with prognostic and therapeutic impact, and many efforts are being made to improve molecular knowledge on glioblastoma. Invasive procedures, such as tumor biopsy or radical resection, are needed to characterize the tumor.

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Breast cancer (BC) is the second most common tumour spreading to the central nervous system (CNS). The prognosis of patients with CNS metastases depends on several parameters including the molecular assessment of the disease. Although loco-regional treatment remains the best approach, systemic therapies are acquiring a role leading to remarkable long-lasting responses.

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To date, there are no standardized systemic treatment options for patients with metastatic pituitary carcinoma progressed to chemo and radiation therapy. Immune-checkpoint inhibitors (ICIs) have been successfully assessed in other solid malignancies and could be a concrete hope for these patients. We performed a critical review of the literature aimed to evaluate studies assessing ICIs in pituitary malignancies.

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Introduction: Data on placental pathologic features associated with thyreoperoxidase antibodies (TPO Ab) and/or hypothyroidism are limited. The objective of the study was to analyze placental pathologic features of women with TPO Ab positivity.

Methods: Prospective case-control observational study of pregnancy outcome among women screened for TPO Ab positivity and/or isolated hypothyroidism (TSH>4mU/L) during the first trimester of pregnancy.

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Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones.

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Diffuse low-grade gliomas account for approximately 20% of all primary brain tumors, they arise from glial cells and show infiltrative growth without histological features of malignancy. Mutations of the IDH1 and IDH2 genes constitute a reliable molecular signature of low-grade gliomas and are the earliest driver mutations occurring during gliomagenesis, representing a relevant biomarker with diagnostic, prognostic, and predictive value. IDH mutations induce a neomorphic enzyme that converts α-ketoglutarate to the oncometabolite D-2-hydroxyglutarate, which leads to widespread effects on cellular epigenetics and metabolism.

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