Publications by authors named "M E Vazquez-Mosquera"
Article Synopsis
- The study investigates how human milk (HM) influences the growth and development of preterm and term newborns through specific proteins and miRNAs.
- It analyzes HM samples from colostrum (early milk) and mature milk, revealing differences in immune and metabolic functions between the two stages, particularly in relation to the gestational age of the infant.
- The findings suggest that tailoring HM based on gestational age can optimize newborn care, highlighting the importance of the molecular components in HM for infant health.
Article Synopsis
- The study presents a rare case of two 9-year-old twins with galactose mutarotase (GALM) deficiency who have remained asymptomatic, even after gradually reintroducing galactose into their diet after a period of strict dietary restriction.
- Initial detection was through newborn screening, leading to biochemical normalization after dietary adjustments; the genetic analysis revealed a complete deletion of a specific exon in the GALM gene.
- The findings suggest that dietary liberalization may not negatively affect health in GALM deficiency, prompting further exploration into dietary management for this condition.
Background: There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This programme currently screens for 26 IEMs in dried blood and urine samples collected 24-72 h after birth.
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- Fabry disease (FD) is a rare genetic disorder caused by low levels of α-galactosidase A enzyme, leading to various complications that make diagnosis and understanding the disease more challenging.
- Researchers analyzed the plasma proteins of 50 FD patients and 50 healthy individuals and found over 30 different proteins associated with inflammation, metabolism, and other biological processes that vary based on sex.
- Notably, certain proteins like apolipoprotein A-IV were identified as strong indicators for complications like chronic kidney disease in FD patients, outperforming traditional renal markers and enhancing the potential for earlier diagnosis and better understanding of the disease.
Background: Immune and non-immune cells contribute to the pathology of chronic arthritis, and they can contribute to tissue remodeling and repair as well as disease pathogenesis. The present research aimed to analyze inflammation and bone destruction/regeneration biomarkers in patients with psoriatic arthritis (PsA), rheumatoid arthritis (RA), osteoarthritis (OA), and ankylosing spondylitis (AS).
Methods: Samples were obtained from the inflamed knee of patients with knee arthritis who had been referred for undergoing arthroscopies.