Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Pathogenic and likely pathogenic variants in the TECRL gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.

E-Mailed Conference Synopses as a Tool for Resident and Faculty Development.

OBJECTIVE: This study aims to investigate the utility and success of daily conference synopses emails ("Daily Dispatches") sent to surgical attending physicians, fellows, and residents to foster resident and faculty development. DESIGN: Emails were distributed by the surgical residency program director (PD), summarizing each day of a surgical conference. Two prospective electronic surveys were administered to surgical residents, fellows, and attending surgeons to evaluate the value of this Daily Dispatch method. SETTING: Institutional; Medstar Georgetown University Hospital, Department of Surgery, Washington, DC. PARTICIPANTS: Email synopses were sent to surgical attendings, fellows and residents. Pilot survey was distributed to 60 participants, main survey sent to 74 participants. RESULTS: The response rate for the pilot survey was 41.6% (25/60). When asked about the mode of delivery, 96% of respondents wanted to maintain the email medium when compared to a lecture, paper handout, or the use of social media. The response rate for the main survey was 31.1% (23/74). Almost all (91%) respondents reported reading the emails. Within this group, 70% "agreed" or "strongly agreed" that the emails were useful. Furthermore, 90% reported learning "at least one new thing" and 80% confirmed these "emails provide meaningful content they would not otherwise obtain". CONCLUSION: Individualized daily synopsis emails highlighting relevant content provided meaningful information from conferences to non-attendees. The emails were well received and useful. Daily Dispatches meet an important need in dissemination of information traditionally gathered only by the rate-limiting step of conference attendance.

Lumbar Intradiskal Platelet-Rich Plasma (PRP) Injections: A Prospective, Double-Blind, Randomized Controlled Study.

OBJECTIVE: To determine whether single injections of autologous platelet-rich plasma (PRP) into symptomatic degenerative intervertebral disks will improve participant-reported pain and function. DESIGN: Prospective, double-blind, randomized controlled study. SETTING: Outpatient physiatric spine practice. PARTICIPANTS: Adults with chronic (≥6 months), moderate-to-severe lumbar diskogenic pain that was unresponsive to conservative treatment. METHODS: Participants were randomized to receive intradiskal PRP or contrast agent after provocative diskography. Data on pain, physical function, and participant satisfaction were collected at 1 week, 4 weeks, 8 weeks, 6 months, and 1 year. Participants in the control group who did not improve at 8 weeks were offered the option to receive PRP and subsequently followed. MAIN OUTCOME MEASURES: Functional Rating Index (FRI), Numeric Rating Scale (NRS) for pain, the pain and physical function domains of the 36-item Short Form Health Survey, and the modified North American Spine Society (NASS) Outcome Questionnaire were used. RESULTS: Forty-seven participants (29 in the treatment group, 18 in the control group) were analyzed by an independent observer with a 92% follow-up rate. Over 8 weeks of follow-up, there were statistically significant improvements in participants who received intradiskal PRP with regards to pain (NRS Best Pain) (P = .02), function (FRI) (P = .03), and patient satisfaction (NASS Outcome Questionnaire) (P = .01) compared with controls. No adverse events of disk space infection, neurologic injury, or progressive herniation were reported following the injection of PRP. CONCLUSION: Participants who received intradiskal PRP showed significant improvements in FRI, NRS Best Pain, and NASS patient satisfaction scores over 8 weeks compared with controls. Those who received PRP maintained significant improvements in FRI scores through at least 1 year of follow-up. Although these results are promising, further studies are needed to define the subset of participants most likely to respond to biologic intradiskal treatment and the ideal cellular characteristics of the intradiskal PRP injectate.