Publications by authors named "A Spasiano"

Article Synopsis
  • Kidney stone disease (KSD) is a growing global health issue, with around 30% of children and 1-5% of adults potentially having monogenic variants, yet genetic testing remains underutilized due to a lack of awareness and perceived benefits.
  • A study of 1675 patients showed that genetic testing yielded a positive result in about 20% overall, with a higher likelihood (26%) in pediatric patients compared to adults (8%), indicating the importance of age in diagnosis.
  • The most common genetic condition found was cystinuria, and the overall diagnostic yield decreased notably when excluding cases identifiable through other tests, highlighting the need for more awareness and application of genetic testing in KSD.
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We retrospectively collected all ultrasound imaging data of our thalassemia patients over a period of 10 years with the aim of assessing the prevalence and the risk factors of renal stones and cysts. Moreover, we assessed the incidence of renal-cell carcinoma (RCC) among thalassemia patients (133 with thalassemia major (TM) and 157 with thalassemia intermedia (TI)) and its association with demographic and clinical findings. Renal stones were detected in 15.

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Background: The aim of this cross-sectional study was to investigate the association of left ventricular (LV) strain parameters with demographics, clinical data, cardiovascular magnetic resonance (CMR) findings, and cardiac complications (heart failure and arrhythmias) in patients with β-thalassemia major (β-TM).

Method: We considered 266 β-TM patients (134 females, 37.08 ± 11.

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The aim of this cross-sectional study was to investigate the relationship of left atrioventricular coupling index (LACI) and right atrioventricular coupling index (RACI) with demographics, clinical data, cardiovascular magnetic resonance findings, and cardiac complications (heart failure, arrhythmias, and pulmonary hypertension) in a cohort of patients with beta-thalassemia major (β-TM). We evaluated 292 β-TM patients (151 females, 36.72 ± 11.

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