The influence of full irrigation, double-regulated (RDI) and sustained deficit irrigation (SDI) treatments on almond quality was assessed by analyzing different parameters: sugars, organic acids, antioxidant activity, total phenolic content (TPC), and volatile compounds. Almond quality studies for plants submitted to water stress are scarce, and it is essential to understand the biochemical responses of plants to water stress in maintaining fruit yield and quality. Citric acid, sucrose, antioxidant activity, and TPC were not affected by the application of studied deficit irrigation strategies (DI).
View Article and Find Full Text PDFHMG-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine catabolism. We report a new Spanish patient who bears the frequent nonsense mutation G109T (Mediterranean mutation). This mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3.
View Article and Find Full Text PDFRelative overgrowth of the greater trochanter is a problem related to proximal femoral growth cartilage damage. Eleven hips in 10 patients aged 4-13 years with acquired coxa vara were retrospectively reviewed. Distal and lateral transfer of the greater trochanter was performed in all patients.
View Article and Find Full Text PDFIntroduction: Prader-Willi syndrome (PWS), a neuroendocrine disorder could be due to: a large paternally derived chromosome deletion of 15q11-13, to maternal uniparental disomy (UPD), or imprinting mutation (IC); amongst this last group five families, with inherited microdeletion encompassing SNRPN were described; in these families excluded a typical large deletion. Families with more than a child with PWS by classic large deletion have not been published.
Clinical Cases: We report on a family with three children, 2 of which had typical clinical findings of PWS: mental retardation, hypogonadism, hypotonia, hyperphagia, obesity and also strabismus and synophridia; during pregnancy reduced fetal movement was noted.