Publications by authors named "B Bernardino-Cuesta"
Article Synopsis
- RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is a genetic disorder leading to neurological issues, dental problems, and hormonal deficiencies, caused by mutations in specific genes.
- A study evaluated the craniofacial features of 31 POLR3-HLD patients, revealing common abnormalities like a flat midface, smooth philtrum, and pointed chin, with different features linked to specific gene mutations.
- The findings highlight that craniofacial abnormalities are prevalent in POLR3-HLD, offering detailed insights into the dysmorphic traits associated with the various genetic variants involved.
Objectives: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection.
Patients And Methods: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain.
Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes.
Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations.
Background And Objectives: To determine the efficacy, tolerance, and safety of BRV in children with epilepsy.
Methods: A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up of 3 months.
Method And Results: Sixty-six patients were included in the study.
Purpose: Ketogenic dietary therapies (KDT) are high-fat and low-carbohydrate diets that may achieve seizure control and improve cognitive state. We describe our KDT experience in infants (children less than two years of age).
Research Methods & Procedures: We conducted a retrospective, descriptive and observational study of 42 infants treated with KDT between 2000-2018.