Compliance With the Use of Low-Vision Aids in a Greek Population: An Explorative Study.

The aim of this study is to investigate the compliance with low-vision aids (LVAs) among patients with low vision (LV) in a Greek population. An explorative study was conducted in a sample of patients with LV attending our outpatient unit at the School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece. Patients' demographics and daily visual demands were recorded, and they were administered with the National Eye Institute Visual Function Questionnaire-25 (VFQ-25) at baseline. Participants were trained in the use of a wide range of LVAs before their prescription. Evaluation of the use of the LVAs was conducted at one year after the baseline using a structured phone survey. A total of 100 LV patients were included, with 68% of them being older than 65 years and 50 being males. The main cause of LV (57.0%) was age-related macular degeneration, and the mean VFQ-25 score at baseline was 49.2 (SD= 17.8). Overall, 75 patients had been prescribed LVAs, with 76.0% of these patients preferring an optical aid. The vast majority (98.7%) of these patients stated using the LVA one year after the baseline, and 62.1% of them reported using the aid often to very often. Significantly, 76% of these patients reported that their quality of life was positively affected by the use of the aid, and 97.3% would recommend the use of LVA to another individual with the same problem. Providing appropriate training before the prescription is of high significance to improve the rate of compliance with the use of LVAs. These results can be used to develop appropriate strategies in this field.

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features.

Cholesterol granuloma presenting as a mass obstructing the external ear canal.

BACKGROUND: Cholesterol granuloma (CG) may involve the middle ear, the mastoid bone and the petrous apex. However, CG presenting as a mass obstructing the external ear canal (EEC) is relatively rare and it can be a diagnostic challenge. CASE PRESENTATION: We report a case of a CG occupying the mastoid antrum and presenting as a mass into the EEC. Temporal bone computerized tomography showed a soft tissue mass which eroded the posterior-superior bony wall of the EEC. On magnetic resonance imaging, the mass revealed a high signal on both T1 and T2-weighted images. The CG was removed by a mastoidectomy procedure and the histopathologic report confirmed the diagnosis of CG. A type III tympanoplasty was performed. CONCLUSIONS: The postoperative course was uneventful.