Publications by authors named "M Polito"

255 Publications

Reply to Letter to the Editor: "Pheochromocytoma and Takotsubo Syndrome: An Ominous Duo".

Anatol J Cardiol 2022 08;26(8):670-671

Department of Cardiology, A.O.U. "San Giovanni di Dio e Ruggi D'Aragona", Salerno, Italy.

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http://dx.doi.org/10.5152/AnatolJCardiol.2022.2040DOI Listing
August 2022

Clonal analysis of human clonogenic keratinocytes.

Methods Cell Biol 2022 18;170:101-116. Epub 2022 Apr 18.

Centre for Regenerative Medicine "Stefano Ferrari", University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

Regenerative medicine has its roots in harnessing stem cells for permanent restoration of damaged or diseased tissues. The first procedure for the transplantation of epidermal cultures in massive full-thickness burns was established in the 1980s. Since then, epithelial stem cell-based therapies have been further developed in cell and gene therapy protocols aimed at restoring visual acuity in severe ocular burns and treating patients affected by genetic skin diseases, as Epidermolysis Bullosa. The clinical success of these Advanced Therapy Medicinal Products (ATMPs) requires the presence of a defined number of epithelial stem cells in the grafts, detected as holoclone-forming cells. To date, the most trustworthy method to identify and measure holoclones in a culture is the clonal analysis of clonogenic keratinocytes. Here we describe in detail how to perform such a clonal analysis and identify each epidermal clonal type.
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http://dx.doi.org/10.1016/bs.mcb.2022.02.009DOI Listing
April 2022

Response to immunotherapy in KRAS G12C mutated NSCLC: a single-centre retrospective observational study.

Oncotarget 2022 11;13:686-693. Epub 2022 May 11.

Medical Oncology Unit B, Department of Radiology, Oncology and Pathology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.

Background: Non-small cell lung cancer is the leading cause of cancer death worldwide. New strategies in molecular therapies are being explored to detect and target genetic mutations in NSCLC. Therefore, it is also important to understand the interaction between these mutations and other therapies. This study focuses on possible correlations between the KRAS-G12C mutation and response of patients treated with immunotherapy.

Methods: Twenty-two patients with stage IV NSCLC undergoing immunotherapy were divided into two groups treated with first- and second-line therapy, respectively. KRAS-G12C mutation was detected by liquid biopsy Idylla KRAS assay.

Results: In first-line treated patients, there was no significant increase in PFS in patients with the KRAS mutation (20 months versus 14.5 months, HR = 1.31; CI 95% = 0.25-6.71; value = 0.76) and no difference in OS (OS = 21 months, HR = 1; CI 95% = 0.17-6.2; value > 0.99). In the second group, KRAS G12C mutated patients had a median PFS of 23 months compared with a median PFS of only 5 months among nonmutated patients (HR = 3.28; CI 95% = 0.86-12.5; value = 0.03).

Conclusion: The results of this study do not reveal a clear correlation between mutation and response to immunotherapy. The mechanism regulating immune system activity in the tumor microenvironment remains unclear.
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http://dx.doi.org/10.18632/oncotarget.28230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9093982PMC
May 2022

Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.

Front Cardiovasc Med 2022 25;9:838200. Epub 2022 Apr 25.

Heart Department, University Hospital San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.

Introduction: Aim of this study was to evaluate, in a metropolitan area not already explored, the prevalence of Anderson-Fabry disease, by genetic screening, in patients with echocardiographic evidence of left ventricular hypertrophy (LVH) of unknown origin and "clinical red flags".

Methods: From August 2016 to October 2017, all consecutive patients referring to our echo-lab for daily hospital practices with echocardiographic evidence of LVH of unknown origin in association with history of at least one of the classical signs and symptoms related to Fabry disease (FD) (neuropathic pain, anhidrosis/hypohidrosis, angiokeratomas, gastrointestinal problems, chronic kidney disease, or cerebrovascular complications) were considered eligible for the FD genetic screening program. Through dried blood spot testing, α-Galactosidase A (α-Gal A) activity and analysis of the gene were performed.

Results: Among 3,360 patients who underwent transthoracic echocardiography in our echo-lab during the study period, 30 patients (0.89%; 19 men, mean age 58 ± 18.2 years) were selected. FD was diagnosed in 3 (10%) unrelated patients. Three different gene mutations were detected, one of them [mutation c.388A > G (p.Lys130Glu) in exon 3] never described before. Moreover, probands' familiar genetic screening allowed the identification of 5 other subjects affected by FD.

Conclusion: In a metropolitan area not previously investigated, among patients with LVH of unknown origin associated with other "red flags," undergoing genetic screening, the prevalence of FD was very high (10%). Our results highlight the importance of an echocardiographic- and clinical-oriented genetic screening for FD in patients with uncommon cause of LVH.
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http://dx.doi.org/10.3389/fcvm.2022.838200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081601PMC
April 2022

A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging.

J Cardiovasc Echogr 2021 Oct-Dec;31(4):242-245. Epub 2022 Jan 24.

Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy.

We present the case of a patient with recurrent episodes of ventricular fibrillation without evidence of structural cardiac diseases on imaging techniques and negative genetic testing for the most common primary arrhythmia syndromes. A new variant c.6023C>T p.Pro2008Leu of the SCN5A protein, responsible for the sodium inward current (I) through the cardiomyocytes, was found. A likely pathogenic effect of this gene variant was hypothesized.
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http://dx.doi.org/10.4103/jcecho.jcecho_66_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893112PMC
January 2022
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