Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

OBJECTIVE: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery. METHODS: We performed an international, multicenter, whole exome sequencing study of patients who underwent surgery for drug-resistant, unilateral MTLE with normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis and ≥2-year postsurgical follow-up. Patients with either sustained seizure freedom (favorable outcome) or ongoing uncontrolled seizures since surgery (unfavorable outcome) were included. Exomes of controls without epilepsy were also included. Gene set burden analyses were carried out to identify genes with significant enrichment of rare deleterious variants in patients compared to controls. RESULTS: Nine centers from 3 continents contributed 206 patients operated for drug-resistant unilateral MTLE, of whom 196 (149 with favorable outcome and 47 with unfavorable outcome) were included after stringent quality control. Compared to 8,718 controls, MTLE cases carried a higher burden of ultrarare missense variants in constrained genes that are intolerant to loss-of-function (LoF) variants (odds ratio [OR] = 2.6, 95% confidence interval [CI] = 1.9-3.5, p = 1.3E-09) and in genes encoding voltage-gated cation channels (OR = 2.4, 95% CI = 1.4-3.8, p = 2.7E-04). Proportions of subjects with such variants were comparable between patients with favorable outcome and those with unfavorable outcome, with no significant between-group differences. INTERPRETATION: Rare variation contributes to the genetic architecture of MTLE, but does not appear to have a major role in failure of MTLE surgery. These findings can be incorporated into presurgical decision-making and counseling. ANN NEUROL 2022.

Improvement of Endoscopic Reports with Implementation of a Dictation Template.

AIMS: Completeness of procedure reports is an important quality indicator in endoscopy. A dictation template was developed to ensure key elements were included in colonoscopy and esophagogastroduodenoscopy (EGD) reports. Endoscopy reports were reviewed prior to and following implementation of the dictation templates to determine whether report completeness improved. METHODS: Key elements in an endoscopic report were identified from published guidelines and posted at dictation stations. Colonoscopy and EGD reports were reviewed for the nine physicians performing endoscopy at St. Paul's Hospital prior to and following implementation of dictation templates. Dictation completeness was defined as inclusion of all key elements. Dictation completeness and inclusion of individual key elements at the two time points were compared using the t-test and Chi-square test. RESULTS: Reports for 4648 procedures undertaken by nine endoscopists were reviewed for completeness at each time point (2008 and 2014). Colonoscopy report completeness increased from 65.8% to 83.2% (P < 0.001). Items that improved included documentation of consent, endoscope used, complications, withdrawal time and rectal retroflexion. EGD report completeness increased from 72.7% to 77.3% (P < 0.001) with improvement in documentation of consent and complications. Items consistently underreported for colonoscopy and EGD at both time points included: patient age, comorbidities, current medications and patient comfort. CONCLUSION: There was an association between the use of a posted dictation template at dictation stations and the improved completeness of endoscopic reports.

Validation of the St. Paul's Endoscopy Comfort Scale (SPECS) for Colonoscopy.

AIMS: Patient comfort during colonoscopy is an important measure of quality, which can improve patient satisfaction and compliance with future procedures. Our aim was to develop and validate a pain assessment tool based on objective behavioural cues tailored to outpatients undergoing colonoscopy: St. Paul's endoscopy comfort score (SPECS). METHODS: A single-centre, prospective study was conducted in consecutive adults undergoing planned outpatient colonoscopy. Patient comfort was independently assessed by the physician, nurse and a research assistant (observer) using the SPECS and the Gloucester scale (GS). In addition, the nurse-assessed patient comfort score (NAPCOMS), nonverbal pain Assessment tool (NPAT) and Richmond agitation sedation scale (RASS) were completed by the observer. Data on subject demographics, sedation dose and duration of the procedure were collected. Following the procedure, patients completed a patient satisfaction questionnaire, including a visual analogue scale (VAS) to measure their overall perceived pain during the procedure. RESULTS: The study enrolled 350 subjects. The SPECS showed excellent inter-rater reliability among all three raters with an intra-class coefficient (ICC) of 0.81 (95% CI, 0.78-0.84), while the GS showed good reliability with an ICC of 0.77 (95% CI, 0.73-0.80). The SPECS demonstrated moderate agreement with the patient-reported VAS ratings. CONCLUSIONS: The St. Paul's endoscopy comfort score was successfully validated, demonstrating excellent inter-rater reliability.