Publications by authors named "Porzio M"

Purpose: Digital Breast Tomosynthesis (DBT) is an advanced mammography technique for which there are currently no internationally agreed methods and reference values for image quality assessment. The aim of this multicentre study was to evaluate a simple method to assess the technical image quality of reconstructed and synthetic 2D (SM) images of different models of DBT systems using commercially available phantoms.

Methods: The signal difference to noise ratio (SDNR) was chosen as an index of technical image quality and was evaluated for three commercial phantoms, Tomophan, Tormam and CIRS model 015, on 55 DBT systems (six vendors, nine models).

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Purpose: Selective dorsal rhizotomy (SDR) and intrathecal baclofen (ITB) pump placement are two surgical options in children affected by spasticity secondary to cerebral palsy . The latest literature is an enlarging indication for SDR in case of ITB failure in non-ambulant patients as an alternative to pump reimplantation to reduce spasticity and facilitate patients' care.

Methods: A retrospective single-center study has screened all children diagnosed with spastic tetraparesis who underwent in the last 10 years SDR and had previously ITB pump implanted.

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Article Synopsis
  • The study aimed to explore and describe the sexual issues faced by females with cystic fibrosis (CF), an area that has been largely overlooked in previous research.
  • The research involved adult females with CF who were currently or previously in sexual relationships, collecting data through a questionnaire and one-on-one interviews to gain deeper insights into their experiences.
  • Results indicated that a significant majority (93.4%) experienced discomfort during intercourse, with common issues including lack of lubrication and pain, highlighting the need for increased awareness and better management of sexual health concerns among females with CF.
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Background: Elexacaftor-tezacaftor-ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTR variant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor-tezacaftor-ivacaftor for people with cystic fibrosis without a F508del CFTR variant in France and to determine CFTR variant responsiveness to elexacaftor-tezacaftor-ivacaftor based on the observed clinical response.

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Tectal plate tumors are a rare subset of midbrain tumors in pediatric populations. They are slow growing and low grade, with indolent and subtle manifestation unless they cause hydrocephalus. We present a tectal tumor in an 8-year-old girl (Video 1).

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Article Synopsis
  • This study investigates the incidence and treatment of malignant central airway obstruction (MCAO) in patients with metastatic non-bronchogenic solid cancers (NBC), revealing that 18% of a large cohort experienced this complication.
  • It identifies key prognostic factors influencing survival post-therapeutic bronchoscopy (TB), such as histology, performance status, and previous treatments.
  • The findings suggest that TB effectively alleviates symptoms and prolongs survival for these patients, highlighting the need for timely referrals for bronchoscopic interventions.
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Background:  Skull metastases from follicular thyroid carcinoma (FTC) are infrequent but clinically significant, often presenting with localized pain, neurologic deficits, and cranial nerve dysfunction. Early detection and accurate diagnosis pose challenges due to their asymptomatic nature in some cases.

Methods:  A systematic literature review, conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, identified and analyzed 15 relevant studies focusing on large skull metastases in FTC.

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Background: Cystic fibrosis related diabetes (CFRD) is commonly associated with declining lung function and nutritional status. We aimed to evaluate the pulmonary impact of early glucose abnormalities by using 2-h standard oral glucose tolerance testing (OGTT) and continuous glucose monitoring (CGM) in people with cystic fibrosis (PwCF).

Methods: PwCF aged ≥10 years old without known CFRD were included in a five-year prospective multicentre study.

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Purpose: The aim of the present study, conducted by a working group of the Italian Association of Medical Physics (AIFM), was to define typical z-resolution values for different digital breast tomosynthesis (DBT) models to be used as a reference for quality control (QC). Currently, there are no typical values published in internationally agreed QC protocols.

Methods: To characterize the z-resolution of the DBT models, the full width at half maximum (FWHM) of the artifact spread function (ASF), a technical parameter that quantifies the signal intensity of a detail along reconstructed planes, was analyzed.

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Background/aim: Intraventricular cerebral metastases (IVCM) are a rare but clinically significant subset of brain metastases. This systematic review aimed to provide a comprehensive analysis of IVCM by synthesizing current literature on epidemiology, clinical presentation, imaging features, pathophysiology, and treatment options.

Materials And Methods: A systematic literature search was conducted, identifying 11 relevant studies encompassing 11 studies encompassing 842 IVCM cases.

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Background: Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator () gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.

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Cervical spondylotic myelopathy (CSM) is a degenerative disease representing the most common spinal cord disorder in the adult population. It is characterized by chronic compression leading to neurological dysfunction due to static and dynamic injury of the spinal cord in cervical spine. These insidious damage mechanisms can result in the reorganization of cortical and subcortical areas.

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Background: Spontaneous spinal epidural hematomas (SSEH), unrelated to trauma, epidural anesthesia, or surgery, are rare in the pediatric population. Here, a 1-year-old male with hemophilia presented with a magnetic resonance (MR)-documented SSEH and was successfully treated with a C5-T10 right hemilaminectomy.

Case Description: A 1-year-old male with hemophilia presented with quadriparesis.

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Glioblastoma multiforme (GBM) represents the most common and aggressive central nervous system tumor associated with a poor prognosis. The aim of this study was to depict the role of intraoperative imaging techniques in GBM surgery and how they can ensure the maximal extent of resection (EOR) while preserving the functional outcome. The authors conducted a systematic review following PRISMA guidelines on the PubMed/Medline and Scopus databases.

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Background: The European Medicines Agency has approved the cystic fibrosis transmembrane conductance regulator (CFTR) modulator combination elexacaftor/tezacaftor/ivacaftor (ETI) for people with cystic fibrosis (CF) carrying at least one F508del variant. The United States Food and Drug Administration (FDA) also approved ETI for people with CF carrying one of 177 rare variants.

Methods: An observational study was conducted to evaluate the effectiveness of ETI in people with CF with advanced lung disease who were not eligible for ETI in Europe.

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Article Synopsis
  • The WHO's fifth edition classification of CNS tumors introduces advancements in diagnosing tumors like gliomas.
  • Radiomics has rapidly evolved, enabling correlations between tumor imaging and molecular characteristics, particularly focusing on glioblastoma.
  • Current findings suggest radiomics holds promise for enhancing patient management and timely diagnosis, especially for patients with limited treatment options, but further research is needed to align it with the latest molecular guidelines.
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Background: Frontotemporal dementia (FTD) is a highly disabling neurologic disorder characterized by behavioral alterations and movement disorders, involving patients with a mean age of 58 years. We present a unique case of a patient suffering from FTD who developed post traumatic bilateral hygromas.

Case Description: A 52-year-old male patient, with an history of head trauma 3 months before, was admitted to our department for recurrent motor seizures.

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Background/aim: Intramedullary spinal cord metastases (ISCM) are deemed extremely aggressive, as confirmed by the low life expectancy since the diagnosis. Up to 26.5% of total ISCM stem from breast cancer (BC), representing the second most frequent primary site after the lung.

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Mucopolysaccharidoses (MPSs) are a rare group of heterogeneous genetic and metabolic disorders, caused by loss of functions of several enzymes that are involved in glycosaminoglycan catabolism. Their progressive accumulations in cells, tissues, and consequently, organs lead to several clinical manifestations, such as musculoskeletal involvement. Indeed, the most common manifestation in the central nervous system is represented by cervical spinal stenosis due to bony alterations or dural thickening.

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