Publications by authors named "Laura Tonelli"
gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked dilated cardiomyopathy is also caused by mutations. Males carrying deletions with absent or very mild phenotypes have been sparsely described.
View Article and Find Full Text PDFSCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
J Cardiovasc Med (Hagerstown)
December 2023
Article Synopsis
- Brugada syndrome (BrS) is a genetic heart condition that can lead to severe heart issues and sudden cardiac death, characterized by a specific ECG pattern.
- This study evaluated the Shanghai Score System's effectiveness in predicting the presence of SCN5A mutations in 125 BrS patients, showing that higher scores were linked to these mutations.
- Results indicated that SCN5A mutations were associated with longer PR and QRS intervals on ECGs, reinforcing the relevance of the Shanghai Score in clinical settings for identifying patients who may benefit from genetic testing.
The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome-wide molecular studies on remaining, well-selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients presenting with PME.
View Article and Find Full Text PDFArticle Synopsis
- Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare heart condition often detected in young people, characterized by fainting spells triggered by emotions or exercise without abnormal resting heart rhythms.
- A 27-year-old woman experienced multiple misdiagnosed fainting episodes, which ultimately resulted in her cardiac arrest outside of the hospital.
- Following her cardiac arrest, medical investigation including AED records suggested CPVT, leading to the start of beta blocker treatment and the discovery of a novel gene variant in the RYR2 gene linked to her condition.
Some hemodialysis patients are reluctant to undergo COVID-19 vaccination for the fear of developing adverse events (AEs). The aim of this study was to verify the safety of the mRNA-1273 vaccine in hemodialysis patients. We conducted a retrospective analysis of in-center hemodialysis patients who underwent mRNA-1273 vaccine from March 1st to April 30th, 2021.
View Article and Find Full Text PDFThe term phenocopy indicates a condition that imitates one produced by a gene and is also used for acquired Brugada-like ECG manifestations. Cases of Brugada phenocopies are increasingly reported in literature and an international registry is ongoing. We describe two patients with Hypertrophic Cardiomyopathy (HCM) and Brugada ECG pattern.
View Article and Find Full Text PDFBackground: Donation after circulatory death (DCD) is a solid resource to widen the kidney donor pool. Italian activity has grown in the last years with encouraging results. Our center has been active in DCD kidney transplantation (KTX) since November 2017, providing 22.
View Article and Find Full Text PDFAmbulatory blood pressure monitoring (ABPM) is now considered by current guidelines to be a reliable method of measurement for the diagnosis and assessment of hypertension. The aim of this study was to relate the short-term outcomes, comorbidity and ABPM findings determined from evaluating an everyday clinical cohort of hypertensive patients. A prospective study was carried out that included hypertensive patients who had undergone 24-h ABPM from January 2016 to November 2017.
View Article and Find Full Text PDFHigh-linear energy transfer (LET) ion irradiation of cell nuclei induces complex and severe DNA lesions, and foci of repair proteins are formed densely along the ion trajectory. To efficiently discriminate the densely distributed/overlapping foci along the ion trajectory, a focus recognition algorithm called FociPicker3D based on a local fraction thresholding technique was developed. We analyzed high-resolution 3D immunofluorescence microscopic focus images and obtained the kinetics and spatial development of γ-H2AX, 53BP1 and phospho-NBS1 foci in BJ1-hTERT cells irradiated with 55 MeV carbon ions and compared the results with the dynamics of double-strand break (DSB) distributions simulated using the PARTRAC model.
View Article and Find Full Text PDFObjectives: To analyse the relation between results of the Aging Males' Symptoms (AMS) questionnaire for aging males, and of quality of life (QOL) questionnaire SF-12 and cardiovascular risk factors.
Methods: 1,927 men aged 55-85 years were interviewed by 56 general practitioners. During the interview the men were asked to fill in the AMS scale and the QOL questionnaire SF-12.