Publications by authors named "Ilaria Maggio"

Article Synopsis
  • * 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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(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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Article Synopsis
  • - 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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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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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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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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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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Meningiomas are the most common primary intracranial tumors. The majority of meningiomas are benign, but they can present different grades of dedifferentiation from grade I to grade III (anaplastic/malignant) that are associated with different outcomes. Radiological surveillance is a valid option for low-grade asymptomatic meningiomas.

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Introduction: Having a clear understanding of the concept of globalization can be particularly relevant for adolescents to comprehend how the world functions and to reflect on the way their personal and professional identity and career future might be affected by globalization. Thus, this mixed design study aimed at examining Northeastern Italian adolescents' thinking about globalization and at exploring the potential role of education (the type of school) in conceptualizing globalization.

Methods: A total of 163 Italian adolescents (42.

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Quality of life (QoL) assessment is frequently not included among the end points of clinical trials (CTs) on renal cell carcinoma. Herein we aimed to describe the assessment and reporting of QoL in Phase II and Phase III CTs published between 2010 and 2020. A total of 25 CTs were included; 76% of trials included were conducted in metastatic renal cell carcinoma patients, while 20% of studies evaluated adjuvant systemic treatments.

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Brain metastases (BMs) represent a negative prognostic factor for patients with solid malignancies. BMs are generally approached with loco-regional treatments and the blood-brain barrier limits the efficacy of some systemic drugs. The aim of this review is to summarize current knowledge about the role of immune checkpoint inhibitors for the management of brain metastases in patients with solid malignancies.

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Renal cell carcinoma is a malignant tumor that arises in the kidney parenchyma. For many years, sunitinib has represented the mainstay of medical treatment for metastatic renal cell carcinoma. Herein, we present the case of a 66-year-old woman with metastatic clear cell renal carcinoma undergoing treatment with sunitinib for two years that developed encephalic leukocytoclastic vasculitis, probably due to a paraneoplastic syndrome.

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Only a minority of studies addressing the association between immune-related adverse events (IrAE) and outcome considered the immortal time bias, with conflicting results. PubMed, Embase, Web of Science and Scopus were searched through 2 January 2020. Studies reporting the impact of IrAE on outcome in patients treated with antiprogrammed death receptor 1 or PD-L1 were included.

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Article Synopsis
  • * Gene mutations in CLCN7 can lead to severe conditions like osteopetrosis, neurodegeneration, and lysosomal storage diseases, which have been studied in recent patients.
  • * Researchers evaluated 13 CLCN7 mutations using various techniques, establishing links between lysosomal dysfunction of ClC-7 and severe neurodegeneration in patients.
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Poly adenosine diphosphate-ribose polymerase inhibitors (PARPi) represent an effective therapeutic strategy for cancer patients harboring germline and somatic aberrations in DNA damage repair (DDR) genes. mutations occur at 1-7% across biliary tract cancers (BTCs), but a broader spectrum of DDR gene alterations is reported in 28.9-63.

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Based on the life design paradigm and career construction adaptation model and on recent directions from the perspective of sustainable and inclusive career guidance, the study aimed at examining the relationship between career adaptability, the tendency to consider systemic challenges to attain sustainable development, and state personal and social hope and their role on the tendency to invest in higher education. The analyses carried out involving 416 Italian high school students found that career adaptability and the tendency to consider systemic challenges in order to attain sustainable development were directly and indirectly, through state personal and social hope, related to the tendency to invest in higher education. The results obtained allowed to provide new contributions to extend results previously described by the life design approach in career development issues and provided useful suggestions for preventive career interventions.

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