Publications by authors named "F Gragnani"
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Clin Epigenetics
October 2024
Article Synopsis
- FSHD is a myopathy linked to changes in DNA methylation at the D4Z4 locus, and this study evaluates the effectiveness of a methylation assay as a diagnostic tool.
- The research involved 218 individuals suspected of having FSHD, comparing traditional molecular testing with the new methylation assay to assess accuracy and consistency.
- The refined methylation assay showed high sensitivity (90%), specificity (100%), and accuracy (93%), indicating its potential for early detection, even in asymptomatic individuals with a family history of FSHD.
Introduction: Laparoscopic adjustable gastric banding (LAGB) is proven to be a safe and effective treatment option for obesity in the long term. However, in recent decades, LAGB prevalence progressively decreased worldwide principally due to the incidence and the management of the complications. Understanding the optimal management of the complications becomes therefore of primary importance.
View Article and Find Full Text PDFBackground: Obesity is a rapidly spreading chronic disease worldwide. Long-term results are critical to assess the effectiveness of a bariatric procedure, particularly in young patients who have long life expectancy.
Methods: A retrospective study on adolescents with morbid obesity who underwent Laparoscopic Adjustable Gastric Banding (LAGB) at our institute from 1995 to 2018 was made.
Background: As obesity is a chronic disease, any bariatric procedure should be validated by long-term results.
Objective: To present our long-term results after laparoscopic adjustable gastric banding over a period of >20 years and to investigate the outcomes in terms of efficacy, complications, and reoperations.
Setting: Private practice, Italy.
Background: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs.
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