Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Clinical use of genome-wide sequencing (GWS) requires pre-test genetic counseling, but the availability of genetic counseling is limited. We developed an interactive online decision-support tool, DECIDE, to make genetic counseling, patient education, and decision support more readily available. We performed a non-inferiority trial comparing DECIDE to standard genetic counseling to assess the clinical value of DECIDE for pre-GWS counseling. One hundred and six parents considering GWS for their children with epilepsy were randomized to conventional genetic counseling or DECIDE. Following the intervention, we measured parents' knowledge and empowerment and asked their opinions about using DECIDE. Both DECIDE and conventional genetic counseling significantly increased parents' knowledge, with no difference between groups. Empowerment also increased but by less than 2% in each group. Parents liked using DECIDE and found it useful; 81% would recommend it to others; 49% wished to use it along with a genetic counselor; 26% of parents preferred to see a genetic counselor; 7% preferred DECIDE alone; and 18% had no preference. DECIDE appears equivalent to genetic counseling at conveying information. In addition, it was highly acceptable to the majority of study participants, many of whom indicated that it was useful to their decision-making. Use of DECIDE as a pre-test tool may extend genetic counseling resources.

Electrophysiological evidence of early functional damage in glaucoma and ocular hypertension.

PURPOSE: The quantification of early retinal ganglion cell damage in ocular hypertension and glaucoma. METHODS: Thirty subjects under treatment for open-angle glaucoma, 23 subjects with ocular hypertension, and 28 healthy subjects in a control group were investigated by monocular pattern electroretinogram (ERG), L&M (long and medium wavelength) cone ERG, and S (short wavelength)-cone ERG. The diagnosis of glaucoma was based on masked assessment of digital stereoscopic optic nerve head images by three glaucoma specialists. The optic nerve head and retinal nerve fiber layer was assessed by scanning laser ophthalmoscopy and optical coherence tomography. RESULTS: All types of ERG had reduced mean amplitudes in ocular hypertension and open-angle glaucoma groups compared with the control group. In the ocular hypertension group, the N95 and the L&M-pathway photopic negative response (PhNR) were significantly attenuated (by 19% and 18% compared with the control group, respectively; by 30% and 22%, respectively, in the open-angle glaucoma group compared with the control group). In the subjects with open-angle glaucoma, the pattern ERG P50-N95 was found to be the most sensitive electrophysiological test, and the cup-disc area ratio, when examined by scanning laser ophthalmoscopy, was the most sensitive imaging parameter. Modest but not statistically significant correlations were found between the imaging and electrophysiologic parameters. CONCLUSIONS: With disc appearance used for the classification of open-angle glaucoma and ocular hypertension, significant electrophysiological losses were found in both conditions. The modest correlation between the structural and electrophysiological measures suggests that these assess different aspects of the pathologic process; electrophysiology can be used to quantify retinal ganglion cell dysfunction that occurs before cell death.

Fall in Earth's magnetic field is erratic.

Earth's magnetic field has decayed by about 5% per century since measurements began in 1840. Directional measurements predate those of intensity by more than 250 years, and we combined the global model of directions with paleomagnetic intensity measurements to estimate the fall in strength for this earlier period (1590 to 1840 A.D.). We found that magnetic field strength was nearly constant throughout this time, in contrast to the later period. Extrapolating to the core surface showed that the fall in strength originated in patches of reverse magnetic flux in the Southern Hemisphere. These patches were detectable by directional data alone; the pre-1840 model showed little or no evidence of them, supporting the conclusion of a steady dipole up to 1840.

Detecting vigabatrin toxicity by imaging of the retinal nerve fiber layer.

PURPOSE: To quantify retinal nerve fiber layer thickness (RNFLT) and macular thickness (MT) in patients exhibiting vigabatrin-attributed visual field loss (VAVFL) and to determine the efficacy of these measures as markers of the retinal damage associated with vigabatrin. METHODS: This was a prospective cross-sectional observational study involving five groups: Group I, 13 patients exhibiting VAVFL; Group II, 8 patients exposed to vigabatrin but with normal fields; Group III, 14 patients receiving carbamazepine monotherapy; Group IV, 20 normal individuals; and Group V, 7 patients receiving sodium valproate monotherapy. At one of two visits, the right eye of each participant underwent two digital imaging modalities: ocular coherence tomography (OCT; StratusOCT; Carl Zeiss Meditec, Dublin, CA) and scanning laser ophthalmoscopy (SLO; Heidelberg Retinal Tomograph; Heidelberg Engineering GmbH, Heidelberg, Germany). At the other visit, participants underwent three-zone, age-corrected suprathreshold perimetry of the whole field and threshold perimetry of the central field (Humphrey Field Analyzer 750; Carl Zeiss Meditec). The order of the visits was randomized. RESULTS: The group mean RNFLT in Group I was attenuated relative to that of the remaining groups (all P < 0.001). At 100% specificity, based on the 95% confidence limits derived from Group IV, OCT exhibited 100% sensitivity and SLO 77% sensitivity for an attenuated RNFLT in patients with VAVFL. All participants manifested an MT within the normal range derived from Group IV. CONCLUSIONS: OCT of the RNFL can efficiently identify vigabatrin-induced damage and will be useful for adults and children unable to perform perimetry and when the perimetric outcome is equivocal.