IMPORTANCE Prompt recognition of a child with a cancer predisposition syndrome (CPS) has implications for cancer management, surveillance, genetic counseling, and cascade testing of relatives. Diagnosis of CPS requires practitioner expertise, access to genetic testing, and test result interpretation. This diagnostic process is not accessible in all institutions worldwide, leading to missed CPS diagnoses. Advances in electronic health technology can facilitate CPS risk assessment.OBJECTIVE To evaluate the diagnostic accuracy of a CPS prediction tool (McGill Interactive Pediatric OncoGenetic Guidelines [MIPOGG]) in identifying children with cancer who have a low or high likelihood of having a CPS. DESIGN, SETTING, AND PARTICIPANTSIn this international, multicenter diagnostic accuracy study, 1071 pediatric (<19 years of age) oncology patients who had a confirmed CPS (12 oncology referral centers) or who underwent germline DNA sequencing through precision medicine programs (6 centers) from January 1, 2000, to July 31, 2020, were studied.EXPOSURES Exposures were MIPOGG application in patients with cancer and a confirmed CPS (diagnosed through routine clinical care; n = 413) in phase 1 and MIPOGG application in patients with cancer who underwent germline DNA sequencing (n = 658) in phase 2. Study phases did not overlap. Data analysts were blinded to genetic test results. MAIN OUTCOMES AND MEASURESThe performance of MIPOGG in CPS recognition was compared with that of routine clinical care, including identifying a CPS earlier than practitioners. The tool's test characteristics were calculated using next-generation germline DNA sequencing as the comparator. RESULTSIn phase 1, a total of 413 patients with cancer (median age, 3.0 years; range, 0-18 years) and a confirmed CPS were identified. MIPOGG correctly recognized 410 of 412 patients (99.5%) as requiring referral for CPS evaluation at the time of primary cancer diagnosis. Nine patients diagnosed with a CPS by a practitioner after their second malignant tumor were detected by MIPOGG using information available at the time of the first cancer. In phase 2, of 658 children with cancer (median age, 6.6 years; range, 0-18.8 years) who underwent comprehensive germline DNA sequencing, 636 had sufficient information for MIPOGG application. When compared with germline DNA sequencing for CPS detection, the MIPOGG test characteristics for pediatric-onset CPSs were as follows: sensitivity, 90.7%; specificity, 60.5%; positive predictive value, 17.6%; and negative predictive value, 98.6%. Tumor DNA sequencing data confirmed the MIPOGG recommendation for CPS evaluation in 20 of 22 patients with established cancer-CPS associations. CONCLUSIONS AND RELEVANCEIn this diagnostic study, MIPOGG exhibited a favorable accuracy profile for CPS screening and reduced time to CPS recognition. These findings suggest that MIPOGG implementation could standardize and rationalize recommendations for CPS evaluation in children with cancer.
Background: Qigong, traditional Chinese mind-body practices, is currently receiving increasing attention with exploration of what it is and what it does. Common elements include postures and movement, attention to breathing, and mental instructions. There is a growing literature on the health benefits of qigong in chronic pain and other conditions, and an intervention that provides benefit in multiple domains is particularly important for clinical practice. In this report, we present a case series of six individuals who engaged in extended qigong practice over the course of at least 4 and up to 11 years, with data derived from an observational trial which evaluated effects of qigong practice on pain, mood, sleep, fatigue, quality of life and overall health in patients attending an outpatient pain management clinic. Methods: Participants attended weekly qigong classes as a voluntary, complementary practice for chronic pain management, and were encouraged to practice regularly at home. Qualitative data were collected prospectively over a series of sessions. Participant narratives were reviewed and those with extended practice histories were included in our case series. Results: Qualitative commentary reflected the richness and heterogeneity of benefits achieved in all studied health domains. Three primary themes were identified: 1) Direct benefits of qigong practice include improvements in pain, pain control, sleep, and other health areas; 2) Regular qigong practice improves quality of life, increases energy and activity, improves mood, and decreases use of medications; 3) Qigong practice cultivates an improved outlook on life and the future as an overall effect. Conclusions: This case series reveals multiple health benefits of extended qigong practice. Given that these occurred in those who practiced the most, one of the barriers to potential health benefits achieved by qigong is commitment to the practice. In appropriate circumstances, health care professionals can recommend qigong as a complementary practice for successful chronic pain management.
Introduction Pegaspargase can cause anti-asparaginase antibody formation, which can decrease its effectiveness without causing any clinically apparent reaction (silent inactivation). When a patient has silent inactivation, a switch to Erwinia anti-asparaginase is warranted, but there is currently a global shortage of Erwinia. The only way to identify silent inactivation is to measure an asparaginase level. However, routine asparaginase level monitoring is not currently standard of care at all Canadian centers. This study aims to identify variations in practice regarding asparaginase level monitoring and Erwinia use. Methods A 21-item survey was developed using OPINIO software and distributed to all Pediatric Hematology–Oncologists in Canada from February to October 2020. Results Respondents represented 15 hospitals across each region of Canada (response rate = 52%). Only 39.2% of respondents reported routinely measuring asparaginase levels, yet 53% of respondents have modified therapy from pegaspargase to Erwinia in up to half of their patients. The most common reason for not measuring asparaginase levels was not knowing how to use levels clinically (25.5%). There was variation in the timing of levels and their target. Conclusions We identified substantial variation in asparaginase activity monitoring practices across Canada. Therefore, future research should aim to develop a national practice guideline on asparaginase activity monitoring.
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