Publications by authors named "L Tonelli"

Introduction: Screening for nasal carriage of Staphylococcus (S.) aureus is associated with a reduction of peritoneal dialysis (PD)-related infections, but conflicting results have questioned the benefit of this practice. This study evaluated the clinical effectiveness of the screening program for nasal carriage of S.

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Spoken language experience influences brain responses to sound, but it is unclear whether this neuroplasticity is limited to speech frequencies (>100 Hz) or also affects lower gamma ranges (∼30-60 Hz). Using the frequency-following response (FFR), a far-field phase-locked response to sound, we explore whether bilingualism influences the location of the strongest response in the gamma range. Our results indicate that the strongest gamma response for bilinguals is most often at 43 Hz, compared to 51 Hz for monolinguals.

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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.

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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.

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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.
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