Publications by authors named "L Loidi"
Article Synopsis
- The study aimed to evaluate the disease burden of familial partial lipodystrophy (FPLD) caused by genetic variants from LMNA and PPARG, with a focus on understanding these rare conditions linked to selective fat loss and metabolic issues.
- The research involved 157 patients from Turkey and Spain, revealing that symptoms typically appeared around 20 years after initial clinical signs, with notable differences in onset and severity between the two types of FPLD, particularly regarding diabetes and cardiovascular issues.
- Key findings indicate that FPLD2 is generally more severe than FPLD3, but the latter still poses significant metabolic risks; Turkish patients showed worse health outcomes like lower body mass index and higher prevalence of liver fat, with cardiovascular
: Primary bilateral uveal melanoma (BUM) is an exceptionally rare form of uveal melanoma (UM). This study aimed to explore the potential existence of a genetic predisposition towards the development of BUM. : We employed an exome sequencing approach on germline DNA from four unrelated patients diagnosed with BUM, seeking pathogenic or likely pathogenic variants indicative of a genetic predisposition to UM.
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- * Findings reveal that generalised lipodystrophy typically appears in childhood, while partial forms manifest in adolescence or adulthood, with significant delays in diagnosis for both types.
- * The study notes distinct clinical features and metabolic abnormalities in patients, with generalised lipodystrophy linked to a shorter life expectancy, signaling the need for better diagnostic guidelines and ongoing research like the ECLip Registry.