Publications by authors named "L Veneziano"
Familial adult myoclonus epilepsy (FAME) management relies on antiseizure medications (ASMs), which inadequately address myoclonus and cortical tremor. This study evaluates Perampanel (PER), an AMPA-receptor antagonist, for treating FAME symptoms. Fifteen FAME2 patients participated in an observational prospective study.
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- External ear lentigo maligna/lentigo melanoma (LM/LMM) accounts for 1%-4% of all primary skin melanomas, and dermoscopy has greatly improved early detection over the last 20 years, especially with new diagnostic features like perifollicular linear projections (PLP).
- The study focused on 19 patients from the Oncologic Dermatology Unit in Bologna, investigating dermoscopic traits and the patients' clinical data, revealing that most patients were older males with an average age of 69.8 years.
- Results indicated that lentigo melanoma (LMM) tends to be larger (more than twice the size) and more commonly presents in older patients than lentigo maligna (LM), with
Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by an expanded GAA repeat in the first intron of the FXN gene.
Objective: The aim of this study was to analyze leukocyte telomeres length (LTL) in FRDA to verify the possible relationships between LTL and disease progression. We investigated LTL in a cohort of FRDA biallelic patients (n = 61), heterozygous (n = 29), and age-matched healthy subjects (n = 87).
Objective: The aim of this study was to describe a cohort of pediatric patients with genetically confirmed familial hemiplegic migraine (FHM). The knowledge of genotype-phenotype correlations may suggest prognostic factors associated with severe phenotypes.
Background: Hemiplegic migraine is a rare disease and data concerning the pediatric population are even more rare as they are often extrapolated from mixed cohorts.
Article Synopsis
- Familial adult myoclonus epilepsy (FAME) is a type of epilepsy caused by genetic factors, and scientists have been trying to understand it for a long time.
- Recent research has found specific gene changes that are linked to FAME in different parts of the world.
- The study of these genetic changes can help experts learn more about the disease and eventually create better ways to diagnose and treat it.