Parental Perspectives on Pediatric Surgical Recovery: Narrative Analysis of Free-Text Comments From a Postoperative Survey.

Background: Qualitative experience data can inform health care providers how to best support families during pediatric postoperative recovery. Patient experience data can also provide actionable information to guide health care quality improvement; positive feedback can confirm the efficacy of current practices and systems, while negative comments can identify areas for improvement.

Objective: This study aimed to understand families' perspectives regarding their children's surgical recovery using qualitative patient experience data (free-text comments) from a prospective cohort study conducted within a larger study developing a postoperative-outcome risk stratification model.

Identifying Risk Factors, Patient-Reported Experience and Outcome Measures, and Data Capture Tools for an Individualized Pain Prediction Tool in Pediatrics: Focus Group Study.

Background: The perioperative period is a data-rich environment with potential for innovation through digital health tools and predictive analytics to optimize patients' health with targeted prehabilitation. Although some risk factors for postoperative pain following pediatric surgery are already known, the systematic use of preoperative information to guide personalized interventions is not yet widespread in clinical practice.

Objective: Our long-term goal is to reduce the incidence of persistent postsurgical pain (PPSP) and long-term opioid use in children by developing personalized pain risk prediction models that can guide clinicians and families to identify targeted prehabilitation strategies.

Pain management communication between parents and nurses after pediatric outpatient surgery.

Purpose: The purpose of this study was to explore parent-nurse pain management communication during a child's discharge process following pediatric outpatient surgery.

Design And Methods: Thirty-two clinical encounters at discharge between parents (N = 40) and nurses (N = 25) at BC Children's Hospital were audio recorded and transcribed verbatim. Content analysis was applied on the audio recordings and corresponding transcripts using MAXQDA qualitative research software and Microsoft Excel.

Barriers and Facilitators to Effective Pain Management by Parents After Pediatric Outpatient Surgery.

Introduction: The purpose of this study was to describe the experience of postoperative pain management from the perspectives of parents and identify areas for improvement.

Method: Forty parents or legal guardians of children aged 5-18 years who underwent outpatient surgery at BC Children's Hospital were recruited. Qualitative semistructured interviews were conducted to explore participants' experiences with the discharge instructions and at-home pain management.

Improving the paediatric surgery patient experience: an 8-year analysis of narrative quality data.

Background: Narrative data about the patient experience of surgery can help healthcare professionals and administrators better understand the needs of patients and their families as well as provide a foundation for improvement of procedures, processes and services. However, units often lack a methodological framework to analyse these data empirically and derive key areas for improvement. The American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) is aimed at improving the quality of surgical care by collecting patient data and reporting risk-adjusted surgical outcomes for each participant hospital in the programme.

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Background: Pathogenic variants in HEXA that impair β-hexosaminidase A (Hex A) enzyme activity cause Tay-Sachs Disease (TSD), a severe autosomal-recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near-zero activity in patients affected with TSD and can also identify carriers, whose single functional copy of HEXA results in reduced enzyme activity relative to noncarriers. Although enzyme testing has been optimized and widely used for carrier screening in Ashkenazi Jewish (AJ) individuals, it has unproven sensitivity and specificity in a pan-ethnic population.

Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.

JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification.

Direct-to-consumer personal genome testing and cancer risk prediction.

The last several years has witnessed an explosion in genomics, with the advent of genome-wide association studies revealing hundreds of DNA variants significantly associated with most common diseases, including cancer. On the heels of these scientific advances came the direct-to-consumer (DTC) genetic testing industry. Genome-wide scans for disease have been marketed and sold directly to the public, without the involvement of a health care provider.

Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases.

Neurofibromatosis 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact on Quality of Life (QoL). There is a wide range of phenotypic variability, so that affected individuals may have either medically devastating or relatively mild manifestations that do not impact their daily lives. In this study, the SF-36 and Skindex questionnaires were used to quantitatively investigate the impact of severity and visibility on QoL in an American population.

"Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits.

Although mathematical relationships can be proven by deductive logic, biological relationships can only be inferred from empirical observations. This is a distinct disadvantage for those of us who strive to identify the genes involved in complex diseases and quantitative traits. If causation cannot be proven, however, what does constitute sufficient evidence for causation? The philosopher Karl Popper said, "Our belief in a hypothesis can have no stronger basis than our repeated unsuccessful critical attempts to refute it.