11 results on '"Feo, Maria"'
Search Results
2. Inferring disease course from differential exon usage in the wide titinopathy spectrum.
- Author
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Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie‐Bitach, Tania, and Nampoothiri, Sheela
- Subjects
- *
ALTERNATIVE RNA splicing , *MYOCARDIUM , *PROGNOSIS , *SKELETAL muscle , *FETAL heart , *FACIOSCAPULOHUMERAL muscular dystrophy - Abstract
Objective Methods Results Interpretation Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult‐onset limb‐girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023. TTN mutations were detected through exome or genome sequencing. Information about familial and personal clinical history was collected in a standardized form. RNA‐sequencing and analysis of TTN exon usage were performed on an internal sample cohort including postnatal skeletal muscles, fetal skeletal muscles, postnatal heart muscles, and fetal heart muscles. In addition, publicly available RNA‐sequencing data was retrieved from ENCODE.We generated new RNA‐seq data on TTN exons and identified genotype–phenotype correlations with prognostic implications for each titinopathy patient (whether worsening or improving in prenatal and postnatal life) using percentage spliced in (PSI) data for the involved exons. Interestingly, thanks to exon usage, we were also able to rule out a titinopathy diagnosis in one prenatal case.This study demonstrates that exon usage provides valuable insights for a more exhaustive clinical interpretation of TTNtv; additionally, it may serve as a model for implementing personalized medicine in many other genetic diseases, since most genes undergo alternative splicing. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
3. Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
- Author
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Romano, Ferruccio, primary, Haanpää, Maria K., additional, Pomianowski, Pawel, additional, Peraino, Amanda Rose, additional, Pollard, John R., additional, Di Feo, Maria Francesca, additional, Traverso, Monica, additional, Severino, Mariasavina, additional, Derchi, Maria, additional, Henzen, Edoardo, additional, Zara, Federico, additional, Faravelli, Francesca, additional, Capra, Valeria, additional, and Scala, Marcello, additional
- Published
- 2024
- Full Text
- View/download PDF
4. Cardiac sympathetic activity and lethal arrhythmic events: insight into bell-shaped relationship between 123I-meta-iodobenzylguanidine activity and event rates.
- Author
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Nakajima, Kenichi, Nakata, Tomoaki, Doi, Takahiro, Verschure, Derk O., Frantellizzi, Viviana, De Feo, Maria Silvia, Tada, Hayato, and Verberne, Hein J.
- Subjects
ARRHYTHMIA ,CARDIAC pacing ,CARDIAC arrest ,VENTRICULAR tachycardia ,HEART failure patients ,CARDIAC resuscitation - Abstract
Background:
123 I-meta-iodobenzylguanidine (mIBG) has been applied to patients with chronic heart failure (CHF). However, the relationship between123 I-mIBG activity and lethal arrhythmic events (ArE) is not well defined. This study aimed to determine this relationship in Japanese and European cohorts. Results: We calculated heart-to-mediastinum (H/M) count ratios and washout rates (WRs) of 827 patients using planar123 I-mIBG imaging. We defined ArEs as sudden cardiac death, arrhythmic death, and potentially lethal events such as sustained ventricular tachycardia, cardiac arrest with resuscitation, and appropriate implantable cardioverter defibrillator (ICD) discharge, either from a single ICD or as part of a cardiac resynchronization therapy device (CRTD). We analyzed the incidence of ArE with respect to H/M ratios, WRs and New York Heart Association (NYHA) functional classes among Japanese (J; n = 581) and European (E; n = 246) cohorts. We also simulated ArE rates versus H/M ratios under specific conditions using a machine-learning model incorporating 13 clinical variables. Consecutive patients with CHF were selected in group J, whereas group E comprised candidates for cardiac electronic devices. Groups J and E mostly comprised patients with NYHA functional classes I/II (95%) and II/III (91%), respectively, and 21% and 72% were respectively implanted with ICD/CRTD devices. The ArE rate increased with lower H/M ratios in group J, but the relationship was bell-shaped, with a high ArE rate within the intermediate H/M range, in group E. This bell-shaped curve was also evident in patients with NYHA classes II/III in the combined J and E groups, particularly in those with a high (> 15%) mIBG WR and with ischemic, but not in those with non-ischemic etiologies. Machine learning-based prediction of ArE risk aligned with these findings, indicating a bell-shaped curve in NYHA class II/III but not in class I. Conclusions: The relationship between cardiac123 I-mIBG activity and lethal arrhythmic events is influenced by the background of patients. The bell-shaped relationship in NYHA classes II/III, high WR, and ischemic etiology likely aids in identifying patients at high risk for ArEs. [ABSTRACT FROM AUTHOR]- Published
- 2024
- Full Text
- View/download PDF
5. Prostate-Specific Membrane Antigen Radioligand Therapy in Non-Prostate Cancers: Where Do We Stand?
- Author
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Dondi, Francesco, Miceli, Alberto, Rovera, Guido, Feudo, Vanessa, Battisti, Claudia, Rondini, Maria, Marongiu, Andrea, Mura, Antonio, Camedda, Riccardo, De Feo, Maria Silvia, Conte, Miriam, Gorica, Joana, Ferrari, Cristina, Nappi, Anna Giulia, and Santo, Giulia
- Subjects
PROSTATE-specific membrane antigen ,SALIVARY gland cancer ,RENAL cell carcinoma ,PROSTATE cancer ,THYROID cancer ,SALIVARY glands ,PROSTATE - Abstract
Introduction: The term theragnostic refers to the combination of a predictive imaging biomarker with a therapeutic agent. The promising application of prostate-specific membrane antigen (PSMA)-based radiopharmaceuticals in the imaging and treatment of prostate cancer (PCa) patients opens the way to investigate a possible role of PSMA-based radiopharmaceuticals in cancers beyond the prostate. Therefore, the aim of this review was to evaluate the role of
177 Lu-PSMA radioligand therapy (RLT) in malignancies other than prostate cancer by evaluating preclinical, clinical studies, and ongoing clinical trials. Methods: An extensive literature search was performed in three different databases using different combinations of the following terms: "Lu-PSMA", "177 Lu-PSMA", "preclinical", "mouse", "salivary gland cancer", "breast cancer", "glioblastoma", "solid tumour", "renal cell carcinoma", "HCC", "thyroid", "salivary", "radioligand therapy", and "lutetium-177". The search had no beginning date limit and was updated to April 2024. Only articles written in English were included in this review. Results: A total of four preclinical studies were selected (breast cancer model n = 3/4). PSMA-RLT significantly reduced cell viability and had anti-angiogenic effects, especially under hypoxic conditions, which increase PSMA binding and uptake. Considering the clinical studies (n = 8), the complexity of evaluating PSMA-RLT in cancers other than prostate cancer was clearly revealed, since in most of the presented cases a sufficient tumour radiation dose was not achieved. However, encouraging results can be found in some types of diseases, such as thyroid cancer. Some clinical trials are still ongoing, and results from prospective larger cohorts of patients are awaited. Conclusions: The need for larger patient cohorts and more RLT cycles administered underscores the need for further comprehensive studies. Given the very preliminary results of both preclinical and clinical studies, ongoing clinical trials in the near future may provide stronger evidence of both the safety and therapeutic efficacy of PSMA-RLT in malignancies other than prostate cancer. [ABSTRACT FROM AUTHOR]- Published
- 2024
- Full Text
- View/download PDF
6. Cardiac Nuclear Imaging Findings in Atypical Variants of Takotsubo Cardiomyopathy
- Author
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De Feo, Maria Silvia, primary, Conte, Miriam, additional, Frantellizzi, Viviana, additional, Filippi, Luca, additional, Evangelista, Laura, additional, Ricci, Maria, additional, and De Vincentis, Giuseppe, additional
- Published
- 2024
- Full Text
- View/download PDF
7. Immuno-PET for Glioma Imaging: An Update.
- Author
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De Feo, Maria Silvia, Granese, Giorgia Maria, Conte, Miriam, Palumbo, Barbara, Panareo, Stefano, Frantellizzi, Viviana, De Vincentis, Giuseppe, and Filippi, Luca
- Subjects
CETUXIMAB ,EPIDERMAL growth factor receptors ,VASCULAR endothelial growth factors ,GLIOMAS ,POSITRON emission tomography ,PROSTATE-specific antigen ,ANTIBODY specificity ,RADIONUCLIDE imaging - Abstract
Despite significant advances in glioma diagnosis and treatment, overall outcomes remain suboptimal. Exploring novel therapeutic avenues show promise in advancing the field. Theranostics, an evolving discipline integrating diagnosis and therapy, emerges as a particularly auspicious approach. However, an unmet need exists for glioma-associated biomarkers as theranostic targets. Immuno-positron emission tomography (Immuno-PET), a pioneering method uniting PET diagnostic precision with antibody specificity, holds potential for identifying cancer-associated biomarkers. This review aims to provide an updated overview of immuno-PET applications in gliomas. Notably, [
44 Sc]-CHX-A″-DTPA-Cetuximab-Fab targeting Epidermal Growth Factor Receptor (EGFR) has displayed promise in glioma xenografts, enabling potential imaging at 4 h post-injection. Similarly, [89 Zr]-bevacizumab targeting vascular endothelial growth factor (VEGF) yielded encouraging results in preclinical models and a pioneering clinical trial for pediatric patients with diffuse intrinsic pontine glioma (DIPG). Several cell differentiation markers, including CD146, indicative of tumor aggressiveness, and CD11b, reflecting tumor-associated myeloid cells (TAMCs), proved effective targets for immuno-PET. Additionally, immuno-PET directed at prostate-specific antigen (PSMA) demonstrated efficacy in imaging glioma-associated neovasculature. While holding promise for precise diagnosis and treatment guidance, challenges persist in achieving target specificity and selecting suitable radionuclides. Further studies are imperative to advance the field and bridge a translational gap from bench to bedside. [ABSTRACT FROM AUTHOR]- Published
- 2024
- Full Text
- View/download PDF
8. Extraosseous distribution of 99mTc-diphosphonates during bone scintigraphy: review of the literature with case series presentation.
- Author
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Conte, Miriam, De Feo, Maria Silvia, Frantellizzi, Viviana, Marampon, Francesco, Filippi, Luca, Schillaci, Orazio, and De Vincentis, Giuseppe
- Subjects
- *
RADIONUCLIDE imaging , *LITERATURE reviews , *CALCIUM metabolism , *CALCIPHYLAXIS - Abstract
Technetium-99m (99mTc)-diphosphonates represent the most common radiopharmaceutical used for bone scintigraphy. Even if the uptake in bone tissue has been widely explored, atypical uptake could be seen in soft tissue malignancies during bone scintigraphy. Increased vascularization and endothelium permeability represent front-row players in the biodistribution of the tracer, albeit other causes have been identified such as trauma, necrosis, the presence of calcification in metastasis, the pH of the tissue and consequently the type of ion concentration. The aim of this paper is to summarize the state of art of atypical soft tissue uptake seen in cancer tissues. The research was conducted on PubMed. The analysis of the literature suggests that calcium metabolism and ionic saturation have a pivotal role in the biodistribution of bone tracers. This phenomenon ranks in a complex scenario that includes carcinogenesis and cancer environment aspects. We also report two cases in our Institution in which atypical uptake in cancer tissues was observed. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
9. A New Approach to Ultrasound Study of the Left Adrenal Lodge
- Author
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Carnemolla A, Gatti M, Biagini C, and De Feo ML
- Abstract
Ultrasound examination of the left adrenal gland is generally associated with relatively low sensitivity and specificity. It is strongly influenced by the operator’s experience, patient characteristics, and the type of equipment available. In particular, the left adrenal gland remains a structure that is diffcult to investigate, even for experts. Therefore, we aimed to improve the ultrasound explorability of the left adrenal gland and, thus, contributing to enhancing the overall diagnostic sensitivity of the technique, allowing for a more widespread application by the addition, alongside traditional structural landmarks, of vascular landmarks. The vascular landmarks are represented by 1) the abdominal aorta at the level of the emergence of the superior mesenteric artery, 2) the splenic vein, and 3) the vascular pedicle of the left kidney. The adrenal gland is located in the space between the aorta medially, the renal pedicle caudally, and the splenic vein anteriorly. Therefore, with a left paramedian axial section, the abdominal aorta is sought at the level of D12, where the superior mesenteric artery originates. Aligning with the splenic vein, which acts as the roof of the space under examination, the area of interest is explored by tilting the probe superiorly and medially towards the aorta, inferiorly and medially towards the left renal vein, and superiorly and laterally towards the renal border, trying to maintain the view of the splenic vein as the true anterior-lateral margin of the area. In cases where the conditions allow for accurate visualization and measurement of the lesion, ultrasound may be preferred over CT for long-term surveillance, especially in young individuals, due to its lack of radiation exposure, simplicity, and lower cost.
- Published
- 2024
- Full Text
- View/download PDF
10. Cardiac sympathetic activity and lethal arrhythmic events: insight into bell-shaped relationship between 123 I-meta-iodobenzylguanidine activity and event rates.
- Author
-
Nakajima K, Nakata T, Doi T, Verschure DO, Frantellizzi V, De Feo MS, Tada H, and Verberne HJ
- Abstract
Background:
123 I-meta-iodobenzylguanidine (mIBG) has been applied to patients with chronic heart failure (CHF). However, the relationship between123 I-mIBG activity and lethal arrhythmic events (ArE) is not well defined. This study aimed to determine this relationship in Japanese and European cohorts., Results: We calculated heart-to-mediastinum (H/M) count ratios and washout rates (WRs) of 827 patients using planar123 I-mIBG imaging. We defined ArEs as sudden cardiac death, arrhythmic death, and potentially lethal events such as sustained ventricular tachycardia, cardiac arrest with resuscitation, and appropriate implantable cardioverter defibrillator (ICD) discharge, either from a single ICD or as part of a cardiac resynchronization therapy device (CRTD). We analyzed the incidence of ArE with respect to H/M ratios, WRs and New York Heart Association (NYHA) functional classes among Japanese (J; n = 581) and European (E; n = 246) cohorts. We also simulated ArE rates versus H/M ratios under specific conditions using a machine-learning model incorporating 13 clinical variables. Consecutive patients with CHF were selected in group J, whereas group E comprised candidates for cardiac electronic devices. Groups J and E mostly comprised patients with NYHA functional classes I/II (95%) and II/III (91%), respectively, and 21% and 72% were respectively implanted with ICD/CRTD devices. The ArE rate increased with lower H/M ratios in group J, but the relationship was bell-shaped, with a high ArE rate within the intermediate H/M range, in group E. This bell-shaped curve was also evident in patients with NYHA classes II/III in the combined J and E groups, particularly in those with a high (> 15%) mIBG WR and with ischemic, but not in those with non-ischemic etiologies. Machine learning-based prediction of ArE risk aligned with these findings, indicating a bell-shaped curve in NYHA class II/III but not in class I., Conclusions: The relationship between cardiac123 I-mIBG activity and lethal arrhythmic events is influenced by the background of patients. The bell-shaped relationship in NYHA classes II/III, high WR, and ischemic etiology likely aids in identifying patients at high risk for ArEs., (© 2024. The Author(s).)- Published
- 2024
- Full Text
- View/download PDF
11. Extraosseous distribution of 99m Tc-diphosphonates during bone scintigraphy: review of the literature with case series presentation.
- Author
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Conte M, De Feo MS, Frantellizzi V, Marampon F, Filippi L, Schillaci O, and De Vincentis G
- Subjects
- Humans, Radionuclide Imaging, Tissue Distribution, Bone and Bones, Radiopharmaceuticals, Technetium Tc 99m Medronate metabolism, Diphosphonates, Neoplasms metabolism
- Abstract
Purpose: Technetium-99m (
99m Tc)-diphosphonates represent the most common radiopharmaceutical used for bone scintigraphy. Even if the uptake in bone tissue has been widely explored, atypical uptake could be seen in soft tissue malignancies during bone scintigraphy. Increased vascularization and endothelium permeability represent front-row players in the biodistribution of the tracer, albeit other causes have been identified such as trauma, necrosis, the presence of calcification in metastasis, the pH of the tissue and consequently the type of ion concentration., Conclusion: The aim of this paper is to summarize the state of art of atypical soft tissue uptake seen in cancer tissues. The research was conducted on PubMed. The analysis of the literature suggests that calcium metabolism and ionic saturation have a pivotal role in the biodistribution of bone tracers. This phenomenon ranks in a complex scenario that includes carcinogenesis and cancer environment aspects. We also report two cases in our Institution in which atypical uptake in cancer tissues was observed.- Published
- 2024
- Full Text
- View/download PDF
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