Publications by authors named "L Boccuto"

Background And Objectives: Since the initial description of related hemiplegic migraine (HM), the phenotypic spectrum has expanded from mild episodes in neurotypical individuals to potentially life-threatening events frequently seen in individuals with developmental and epileptic encephalopathies. However, the overall longitudinal course throughout childhood remains unknown.

Methods: We analyzed HM and seizure history from electronic medical records in individuals with -related HM, delineating frequency and severity of events in monthly increments through a standardized approach.

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: Breast cancer is the most common cause of death in women worldwide and the most commonly diagnosed cancer. Although several therapeutic approaches are widely used against breast cancer, their adverse effects often lead to symptoms severely affecting the quality of life. Alternative methods have been explored to reduce these adverse effects, and nutraceuticals have yielded promising results.

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Autism spectrum disorders (ASD) affects 1 in 36 children and is characterized by repetitive behaviors and difficulties in social interactions and social communication. The etiology of ASD is extremely heterogeneous, with a large number of ASD cases that are of unknown or complex etiology, which suggests the potential contribution of epigenetic risk factors. In particular, epidemiological and animal model studies suggest that inflammation during pregnancy could lead to an increased risk of ASD in the offspring.

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Article Synopsis
  • Substance use disorder (SUD) is a major public health issue in the U.S., linked to rising overdose deaths and prescription drug misuse, highlighting the need to explore its molecular and genetic roots.
  • The study utilized the All of Us cohort to analyze genetic variants in four genes related to the kynurenine pathway across six groups, including various types of substance use disorders.
  • Results indicated significant genetic variations in 14 out of 18 polymorphisms, with the cocaine group showing the highest number of significant variants, suggesting possible genetic predictors for increased susceptibility to SUD.
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Article Synopsis
  • PhenoMetaboDiff is an innovative R package designed for analyzing and visualizing data from Biolog Phenotype Mammalian Microarrays, which study the energy production of mammalian cells under various conditions.* -
  • It provides non-parametric statistical methods, integrates with the OPM package for file conversion, calculates performance metrics like slope and area under the curve, and includes visualization tools to analyze specific metabolic pathways.* -
  • This package enhances the assessment of metabolic profiles and is user-friendly, making advanced analysis accessible for both experienced and beginner R users, ultimately benefiting research in various disease conditions.*
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