RESUMEN
AIM: Routine alcohol testing of practicing physicians remains controversial since there are no uniform guidelines or legal regulations in the medical field. Our aim was to quantitatively study the acute and next-morning effects of breath alcohol concentration (BAC)-adjusted alcohol intake on overall simulated surgical performance and microtremor among senior vitreoretinal surgeons. METHODS: This prospective cohort study included 11 vitreoretinal surgeons (>10 years practice). Surgical performance was first assessed using the Eyesi surgical simulator following same-day alcohol consumption producing a BAC reading of 0.06%-0.10% (low-dose), followed by 0.11%-0.15% (high-dose). Dexterity was then evaluated after a 'night out' producing a high-dose BAC combined with a night's sleep. Changes in the total score (0-700, worst-best) and tremor (0-100, best-worst) were measured. RESULTS: Surgeon performance declined after high-dose alcohol compared with low-dose alcohol (-8.60±10.77 vs -1.21±7.71, p=0.04, respectively). The performance during hangover was similar to low-dose alcohol (-1.76±14.47 vs -1.21±7.71, p=1.00, respectively). The performance during hangover tended to be better than after high-dose alcohol (-1.76±14.47 vs -8.60±10.77, p=0.09, respectively). Tremor increased during hangover compared with low-dose alcohol (7.33±21.65 vs -10.31±10.73, p=0.03, respectively). A trend toward greater tremor during hangover occurred compared with high-dose alcohol (7.33±21.65 vs -4.12±17.17, p=0.08, respectively). CONCLUSION: Alcohol-related decline in simulated surgical dexterity among senior vitreoretinal surgeons was dose-dependent. Dexterity improved the following morning but remained comparable to after low-dose alcohol ingestion. Tremor increased during hangover compared with same-day intoxication. Further studies are needed to investigate extrapolations of these data to a real surgical environment regarding patient safety and surgeon performance.
RESUMEN
Leigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging findings in the context of bilateral symmetrical lesions involving the brainstem and basal ganglia. Heterogeneous neurological manifestations such as spasticity, cerebellar ataxia, dystonia, choreoathetosis and parkinsonism are associated with multisystemic and ophthalmological abnormalities due to >75 different monogenic causes. Here, we describe the clinical and genetic features of a Brazilian cohort of patients with Leigh Syndrome in which muscle biopsy analysis showed mitochondrial DNA defects and determine the utility of whole exome sequencing for a final genetic diagnostic in this cohort.