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MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH pathogenic variants in the presence of a positive family history have been reported to have a twofold increased risk of colorectal cancer (CRC) and extra colonic cancers. Our aim was to characterize the spectrum of monoallelic and biallelic germline MUTYH pathogenic variants in Latin American patients and to describe their clinical and genetic characteristics. Patients were identified from eight high-risk genetic cancer centers of five Latin American countries. Statistical analysis was performed using the two-sided P test using the Vassarstats statistical tools. Statistical significance was set at a p value ≤ 0.05. Of the 105 unrelated patients with cancer or colorectal polyposis, 84.8% and 15.2% carried pathogenic monoallelic and biallelic MUTYH variants, respectively. The most common pathogenic variants were p.Gly396Asp and p.Tyr179Cys (55% and 23%, respectively). The mean age at first diagnosis was 48.29 years (range 31-71) and 49.90 years (range 27-87) in biallelic and monoallelic MUTYH patients, respectively. CRC was the only cancer diagnosed in patients with biallelic MUTYH pathogenic variants (75%), while breast cancer (46.1%) was more common than CRC (24.7%) in individuals with monoallelic MUTYH pathogenic variants. We reported a high frequency of European founder variants in our diverse population. Some phenotypic differences from current studies were identified, such as a higher breast cancer burden in monoallelic carriers and a complete absence of extra-colon tumors in biallelic patients., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Background and Objectives: This investigation was undertaken to compare analgesic effects, side effects, and requirements for supplemental analgesic therapy after knee arthroscopy in patients given intra-articular (IA) or subcutaneous (SC) morphine, intra-articular bupivacaine, or placebo., Methods: In a randomized, double-blind controlled trial, 112 patients, 14-65 years old each received two solutions, one SC and the other IA. Group IAM (n = 30) received 10 mg IA morphine in 20 mL normal saline plus 1 mL of SC normal saline Group IAB (n = 27) received 20 mL IA bupivacaine 0.5% with IA epinephrine plus 1 mL SC normal saline Group SCM (n = 26) received 20 mL IA normal saline plus 10 mg SC morphine in 1 mL. Group P (n = 29) received 20 mL IA normal saline plus 1 mL SC normal saline. Pain was evaluated on arrival in the postanesthesia care unit (PACU), and 30, 45, 60, 90, and 120 minutes afterwards. If pain exceeded 4/10 on a visual analog pain scale in the PACU, 30 mg intravenous ketorolac was given, and if pain persisted, 0.4 mg hydromorphone was added every 7 minutes. After PACU discharge, patients whose pain exceeded 4/10 received oral ketorolac 10 mg every 6 hours; oral acetaminophen plus codeine was added every 4 hours if pain still exceeded 4/10. Analgesic requirements, along with visual analog pain score, sedation, and nausea were recorded every 6 hours for 72 hours., Results: All three active (nonplacebo) pain treatments provided good pain control in the PACU. Side effects were similar in all groups. The placebo group had higher pain scores at 120 minutes (R = .02), higher supplemental analgesic requirements at 60 minutes (P = .04) and 90 minutes (P = .02) and the highest amount of total opioid rescue dose (P = .04). Patients in groups IAB and P had higher visual analog pain scores at 6 hours (P = .04) and 30 hours (P = .049) than those in Groups IAM and SCM., Conclusion: A single 10-mg dose of morphine given either IA or SC provides better and longer-lasting postoperative pain relief after knee arthroscopy than 20 mL IA bupivacaine 0.5% with epinephrine.