Publications by authors named "C Ortez"
Methylglyoxal (MG) is an endogenously produced non-enzymatic side product of glycolysis that acts as a partial agonist at GABA receptors. MG that is metabolized by the enzyme glyoxalase-1 (GLO1). Inhibition of GLO1 increases methylglyoxal levels, and has been shown to modulate various behaviors, including decreasing seeking of cocaine-paired cues and ethanol consumption.
View Article and Find Full Text PDFIndividuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.
View Article and Find Full Text PDFArticle Synopsis
- A study analyzed 58 individuals with unresolved childhood-onset neuromuscular diseases (NMDs) who previously had inconclusive exome sequencing results, aiming to improve molecular diagnosis.* -
- By using a combination of trio genome sequencing and RNA sequencing, the researchers achieved genetic diagnoses in 40% of the patients, identifying causal variants in most cases.* -
- The findings highlight that integrating detailed patient phenotyping and advanced genomic techniques can enhance diagnostic rates and better manage individuals suffering from NMDs.*
Article Synopsis
- The study focused on establishing continuous reference intervals for cerebrospinal fluid (CSF) biomarkers homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), which are important for diagnosing neurological diseases related to dopamine and serotonin.
- Utilizing data from a large cohort of pediatric patients, researchers created age-specific models to define these intervals more accurately, addressing the issue of not having healthy control groups.
- The results showed that the continuous reference intervals reduced the number of secondary deficiencies identified and found no significant links between HVA and 5-HIAA levels and the effects of antiepileptic or neuroleptic medications, indicating that these biomarkers may not always correlate with neurological disorders.