Publications by authors named "P Ruiz-Ocana"
Background: Insulin resistance (IR) is considered the main driver of obesity related metabolic complications, and is related to oxidative stress and inflammation, which in turn promote each other. There is currently no specific definition of IR in children, rather, that for adult population is used by pediatric endocrinologists instead. Altered insulin secretion dynamics are associated with worse metabolic profiles and type 2 diabetes mellitus development, thus we aimed to test whether insulin response relates to oxidative stress and inflammation in children.
View Article and Find Full Text PDFObesity increases the risk of insulin resistance and type 2 diabetes through increased inflammation at cellular and tissue levels. Therefore, study of the molecular elements involved in obesity-related inflammation may contribute to preventing and controlling it. Inorganic polyphosphate is a natural phosphate polymer that has recently been attracting more attention for its role in inflammation and hemostasis processes.
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- A study investigated the genetic variants related to skeletal dysplasias in 108 individuals with short stature and mild skeletal issues using next generation sequencing (NGS).
- Out of the participants, 19.4% showed heterozygous variants, primarily in the ACAN and IHH genes, which were linked to significant differences in anthropometric measurements compared to those without variants.
- The findings suggest that mild skeletal dysplasias are more common in people with short stature, and detailed phenotype assessments can help identify patients who might benefit from genetic testing, despite current limitations in extensive molecular studies.
Article Synopsis
- Heterozygous variants in the Indian hedgehog gene (IHH) are linked to brachydactyly type A1 and mild skeletal anomalies, notably in individuals with short stature, broadening the understanding of skeletal dysplasias.
- This study analyzed 16 individuals with unknown genetic causes for their conditions, revealing 15 distinct IHH variants, including the first complete deletion of the gene.
- The clinical findings highlighted variations among patients, with many experiencing mild to moderate short stature and specific hand anomalies, indicating that IHH mutations can cause short stature and skeletal defects, warranting further genetic assessments and family studies for accurate diagnosis.
Background: Familial chylomicronemia syndrome (FCS) is an extremely rare lipoprotein disorder caused by mutations in at least 5 genes of the lipoprotein lipase (LPL) complex.
Objective: This work shows the molecular analysis of patients diagnosed with FCS, who attended the Spanish Arteriosclerosis Society lipid units and were included in the National Dyslipidemia Registry.
Methods: Among the 238 patients registered with severe hypertriglyceridemia (fasting triglycerides >1000 mg/dL), 26 were diagnosed with FCS as they had confirmed postheparin plasma LPL activity deficiency and/or homozygosity for loss-of-function mutations in LPL, GPIHBP1, APOC2, LMF1, or Apolipoprotein A5 (APOA5).