RESULTS: At the end of the trial, participants in the ω3+VitD group showed a significant increase in overall global health status (p <0.01) compared to other groups. Additionally, this group showed significantly higher functional scores (all p <0.05) and lower scores for fatigue (p <0.01), nausea and vomiting, pain, and appetite loss (all p <0.05) at the end of the trial compared to baseline. Furthermore, comparisons between the intervention groups revealed a significant difference in blood concentrations of TNF-α and hsCRP (p <0.05). These significant differences were identified in hsCRP between ω3 and control groups (p <0.01). The ω3+VitD group demonstrated a significant reduction in both hsCRP and TNF-α levels (both p <0.05) from baseline. No significant changes in blood inflammatory markers were observed within the ω3 or VitD groups alone.
CONCLUSION: Participants receiving daily ω3 and weekly VitD supplementation for 9 weeks showed a significant improved in QoL and blood inflammation markers among the newly diagnosed BC during their chemotherapy treatment.
METHODS: A total of 42 affected individuals with homozygous SLC18A2 variant alleles were identified. We evaluated genotype-phenotype correlations and the missense variants in the affected individuals based on the structural modeling of rat VMAT2 encoded by Slc18a2, with cytoplasm- and lumen-facing conformations. A Caenorhabditis elegans model was created for functional studies.
RESULTS: A total of 19 homozygous SLC18A2 variants, including 3 recurrent variants, were identified using exome sequencing. The affected individuals typically showed global developmental delay, hypotonia, dystonia, oculogyric crisis, and autonomic nervous system involvement (temperature dysregulation/sweating, hypersalivation, and gastrointestinal dysmotility). Among the 58 affected individuals described to date, 16 (28%) died before the age of 13 years. Of the 17 patients with p.Pro237His, 9 died, whereas all 14 patients with p.Pro387Leu survived. Although a dopamine agonist mildly improved the disease symptoms in 18 of 21 patients (86%), some affected individuals with p.Ile43Phe and p.Pro387Leu showed milder phenotypes and presented prolonged survival even without treatment. The C. elegans model showed behavioral abnormalities.
CONCLUSION: These data expand the phenotypic and genotypic spectra of SLC18A2-related disorders.