Publications by authors named "A R Margutti"
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.
View Article and Find Full Text PDFBackground: Cardiac conduction disorder (CCD) in patients <50 years old is a rare and mostly unknown condition.
Objective: We aimed to assess clinical characteristics and genetic background of patients <50 years old with CCD of unknown origin.
Methods: We retrospectively reviewed a consecutive series of patients with a diagnosis of CCD before the age of 50 years referred to our center between January 2019 and December 2021.
SCN5A 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.
This study described a SARS-CoV-2 infection in minks on an Italian farm. Surveillance was performed based on clinical examination and a collection of 1879 swabs and 74 sera from dead and live animals. The farm was placed under surveillance for 4.
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