Publications by authors named "Ruben Garcia-Ramirez"
Objective: To describe clinical cases with neurological manifestations associated with Borrelia burgdorferi infection in a large cohort of children and adults from Mexico.
Material And Methods: Patients with neurological manifestation (cranial neuritis, radiculoneuritis, meningitis and encephalomyelitis) were recruited in one pediatric and two general hospitals, during January 2006-December 2015. Blood and cerebrospinal fluid (CSF) samples were drawn from each patient at inclusion.
Article Synopsis
- Mitochondria are crucial for producing ATP (energy) and regulating cellular metabolism, so changes in mitochondrial DNA (mtDNA) can lead to diseases.
- Kearns Sayre syndrome (KSS) is one such disease, characterized by various large-scale deletions in mtDNA, first identified in 1958.
- This study analyzed mtDNA from three KSS patients, uncovering previously known deletions in two cases and a new deletion in one, providing insights into the genetic variations associated with KSS.
Article Synopsis
- * A Mexican patient with KSS was identified, featuring a new deletion of 7629 base pairs, with a high level of heteroplasmy (85%), which hasn't been documented before.
- * Genetic analysis showed specific patterns of repeats around the deletion and suggested that the patient might belong to a Native American lineage known as haplogroup C4c.