Publications by authors named "S DALLA VOLTA"
Pancreatic ductal adenocarcinoma (PDA) cells reprogram both mitochondrial and lysosomal functions to support growth. At the same time, this causes significant dishomeostasis of free radicals. While this is compensated by the upregulation of detoxification mechanisms, it also represents a potential vulnerability.
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- * The patients experienced symptoms like muscle weakness, fatigue, and myalgia, and muscle biopsies showed significant glycogen depletion.
- * Genetic analysis identified two new mutations in the GYS1 gene in the patients, indicating a milder form of the disease with no heart involvement, emphasizing the need for comprehensive diagnostic methods.
Article Synopsis
- - Multiple acyl-CoA dehydrogenase deficiency (MADD) is a genetic disorder that affects fatty acid metabolism, leading to symptoms like muscle weakness and exercise intolerance; riboflavin supplementation has shown to improve patient outcomes.
- - A retrospective study analyzed 10 unrelated patients diagnosed with MADD over 20 years, using clinical evaluations, blood tests, muscle biopsies, and genetic analysis to assess their condition.
- - Common clinical symptoms included fatigue, difficulty chewing, and increased serum CK and LDH levels, with genetic analysis revealing 14 pathogenic variants; all patients improved with riboflavin treatment.
Article Synopsis
- Mitochondrial disorders are the most common inherited conditions, primarily affecting skeletal muscle due to oxidative phosphorylation defects from gene mutations.
- The International Workshop of Experts in Mitochondrial Diseases defined Primary Mitochondrial Myopathy (PMM) as disorders mainly impacting skeletal muscle, with symptoms like muscle weakness and exercise intolerance.
- Recent advancements in genetic sequencing have improved diagnosis and identified various mutations, leading to new therapeutic targets and clinical trials aimed at treating muscle-related symptoms.
[Physiopathology of the tetralogy of Fallot [reproduced from G Ital Cardiol 1972;2:187-90]].
G Ital Cardiol (Rome)
November 2021