Publications by authors named "J D Ortigoza-Escobar"
Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.
Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.
Article Synopsis
- NKX2-1 is a critical transcription factor linked to rare disorders that cause thyroid, lung, and brain issues, with early diagnosis being key for effective treatment.
- This systematic review analyzes the effectiveness of Levothyroxine (LT4) treatment for NKX2-1-related disorders, focusing on congenital hypothyroidism, treatment initiation, and dosage variations.
- Findings reveal that congenital hypothyroidism is common in these patients, yet LT4 is initiated in only 10%, with significant reliance on age at diagnosis affecting treatment outcomes.
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.
Methods: We analyzed data from thirty-nine individuals aged 3-40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
Clin Chem
December 2024
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.