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Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey. Results: The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient's clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%). Conclusion: Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2. [ABSTRACT FROM AUTHOR]

Presents research on diagnosis and screening of otitis media. Identification of pneumatic otoscopy as the recommended tool for diagnosis; Availability of spectral gradient acoustic reflectometry; Use of high-resolution computed tomography and magnetic resonance imaging for better identification of middle and inner ear abnormalities.

Presents research in complications and sequelae of otitis media. Observation of atrophy, myringosclerosis, retraction, adhesion, and perforation in the tympanic membrane; Contribution of ossicular problems due to either fixation or discontinuity or resorption to the development of conductive or mixed hearing loss; Association of labyrinthine pathological changes with otitis media.