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Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis syndrome that increases the risk of gastrointestinal cancer. Approximately 40%–50% of JPS is caused by a germline disease-causing variant (DCV) in the SMAD4 or BMPR1A genes. The aim of this study was to characterize the phenotype of DCV-negative JPS and compare it with DCV-positive JPS. Herein, we analyzed a cohort of 145 individuals with JPS from nine institutions, including both pediatric and adult centers. Data analyzed included age at diagnosis, family history, cancer history, need for colectomy/gastrectomy, and polyp number and location. Compared with DCV-positive JPS, DCV-negative JPS was associated with younger age at diagnosis (P < 0.001), lower likelihood of having a family history of JPS (P < 0.001), and a lower risk of colectomy (P = 0.032). None of the DCV-negative individuals had gastric or duodenal polyps, and polyp burden decreased after the first decade compared with DCV-positive JPS. Subgroup analysis between SMAD4 and BMPR1A carriers showed that SMAD4 carriers were more likely to have a family history of JPS and required gastrectomy. Taken together, these data provide the largest phenotypic characterization of individuals with DCV-negative JPS to date, showing that this group has distinct differences compared with JPS due to a SMAD4 or BMPR1A variant. Better understanding of phenotype and cancer risk associated with JPS both with and without a DCV may ultimately allow for individualized management of polyposis and cancer risk. Prevention Relevance: Juvenile Polyposis Syndrome (JPS) is a gastrointestinal cancer predisposition syndrome requiring lifelong surveillance, however there is limited data comparing individuals with and without a germline disease-causing variant in SMAD4 or BMPR1A. Herein we show that individuals with JPS without an underlying disease-causing variant have distinct phenotypic differences including lack of upper gastrointestinal polyps and lower rates of a family history of JPS, suggesting that a different approach to management may be appropriate in this population.

There is little consensus in the literature regarding the effect of ethanol intoxication on trauma outcomes. Data on its effect in the elderly are even sparser. Our aim was to better define the impact of alcohol use in the geriatric trauma population.We conducted a retrospective review at a level I trauma center looking at admissions from January 2015 through December 2018. Patients were grouped by age: 15-64 y old (YOUNG) versus ≥ 65 y old (OLD). Blood alcohol content (BAC) ≤0.10 g/dL was ETOH (-), and BAC0.10 g/dL was ETOH (+). These were then propensity matched by injury severity score and mechanism of injury. Fisher's exact test and linear regression were applied as appropriate. Significance was defined as P 0.05.There were 8754 patients admitted during the study time frame. A total of 6106 patients were YOUNG and 2647 were OLD. A total of 146 (5.5%) OLD patients were ETOH (+), whereas 1488 (24.4%) YOUNG patients were ETOH (+) (P 0.0001). To assess the impact of alcohol between the two age groups, 285 OLD patients were propensity matched with 285 YOUNG patients. Mortality was significantly higher in the OLD (11.9%) group than that in the YOUNG (3.5%) group (P 0.001). Morbidity was also higher in OLD versus YOUNG patients overall (P 0.05). The presence of ethanol did not significantly impact morbidity or mortality in YOUNG or OLD patients.Higher mortality and morbidity is unsurprising in geriatric trauma patients; however, alcohol does not appear to play a significant role in these outcomes.