Evaluation and recommendations for effective data visualization for seizure forecasting algorithms.

OBJECTIVE: Seizure forecasting algorithms have become increasingly accurate and may reduce the morbidity and mortality caused by seizure unpredictability. Translating these benefits into meaningful health outcomes for people with epilepsy requires effective data visualization of algorithm outputs. To date, no studies have investigated patient and physician perspectives on effective translation of algorithm outputs into data visualizations through health information technology. MATERIALS AND METHODS: We developed front-end data visualizations as part of a Seizure Forecast Visualization Toolkit. We surveyed 627 people living with epilepsy and caregivers, and 28 epilepsy healthcare providers. Respondents scored each visualization in terms of international standardized software quality criteria for functionality, appropriateness, and usability. RESULTS: People with epilepsy and caregivers ranked hourly radar charts highest for protecting against errors in interpreting forecasts, reducing anxiety from seizure unpredictability, and understanding seizure patterns. Accuracy in interpreting visuals, such as a risk gauge, was dependent on seizure frequency. Visuals showing hourly/daily forecasts were more useful for patients who experienced seizure cycling than those who did not. Hourly line graphs and monthly heat maps were rated highest among clinicians for ease of understanding, anticipated integration into clinical practice, and the likelihood of clinical usage. Epilepsy providers indicated that daily heat maps, daily line graphs, and hourly line graphs were most useful for interpreting seizure diary patterns, assessing therapy impact, and counseling on seizure safety. DISCUSSION: The choice of data visualization impacts the effective translation of seizure forecast algorithms into meaningful health outcomes. CONCLUSION: This effort underlines the importance of incorporating standardized, quantitative methods for assessing the effectiveness of data visualization to translate seizure forecast algorithms into clinical practice.

Slide tracheoplasty for the treatment of tracheoesophogeal fistulas.

PURPOSE: The purpose of this study is to determine the surgical outcome of slide tracheoplasty for the treatment of tracheoesophageal (TE) fistula in pediatric patients. METHODS: After internal review board approval, the charts of pediatric patients (0-18years old) who had undergone slide tracheoplasty for tracheoesophageal fistula were retrospectively reviewed. Patient information and surgical outcomes were reviewed. RESULTS: Nine patients underwent slide tracheoplasty for correction of TE fistula. In five patients the original TE fistula was congenital. Other causes included battery ingestion, tracheostomy tube complications, foreign body erosion, and an iatrogenic injury. The average age at repair was 48±64 months (range: 1-190). Seven patients had undergone previous TEF repair either open or endoscopically. There were no recurrences after repair. Two patients had sternal periosteum interposed between the esophagus and trachea. There were no TEF recurrences. A single patient had dehiscence of the tracheal anastomosis and underwent a second procedure. CONCLUSION: Slide tracheoplasty is an effective method to treat complex TE fistulas. The procedure was not associated with any recurrences. This is the first description of a novel, effective, and safe method to treat TE fistulas.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

OBJECTIVE: To evaluate the performance of a next-generation sequencing (NGS)-based targeted resequencing genetic test, OtoSeq, to identify the sequence variants in the genes causing sensorineural hearing loss (SNHL). STUDY DESIGN: Retrospective study. SETTING: Tertiary children's hospital. SUBJECTS AND METHODS: A total of 8 individuals presenting with prelingual hearing loss were used in this study. The coding and flanking intronic regions of 24 well-studied SNHL genes were enriched using microdroplet polymerase chain reaction and sequenced on an Illumina HiSeq 2000 sequencer. The filtered high-quality sequence reads were mapped to reference sequence, and variants were detected using NextGENe software. RESULTS: A total of 1148 sequence variants were detected in 8 samples in 24 genes. Using in-house developed NGS data analysis criteria, we classified 810 (~71%) of these variants as potential true variants that include previously detected pathogenic mutations in 5 patients. To validate our strategy, we Sanger sequenced the target regions of 5 of the 24 genes, accounting for about 29.2% of all target sequence. Our results showed >99.99% concordance between NGS and Sanger sequencing in these 5 genes, resulting in an analytical sensitivity and specificity of 100% and 99.997%, respectively. We were able to successfully detect single base substitutions, small deletions, and insertions of up to 22 nucleotides. CONCLUSION: This study demonstrated that our NGS-based mutation screening strategy is highly sensitive and specific in detecting sequence variants in the SNHL genes. Therefore, we propose that this NGS-based targeted sequencing method would be an alternative to current technologies for identifying the multiple genetic causes of SNHL.

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example.

The development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, not only in the way rare diseases are diagnosed, studied, and treated, but also in how they are addressed at the level of legislation and public policy. The International Dravet syndrome Epilepsy Action League (IDEA League) is the leading patient advocacy organization for Dravet syndrome and related genetic ion-channel epilepsy disorders (hereafter referred to as Dravet syndrome or severe myoclonic epilepsy of infancy, SMEI). The IDEA League's mission encompasses international support and outreach for patients and families, as well as collaboration with physicians, medical education, health care coordination, and research. The IDEA League is an excellent example of the impact of patient advocacy groups, the Internet, and social networking on the landscape of rare diseases.