Perforated intravenous catheter design is acceptable for the administration of contrast-enhanced computed tomography administration in cancer patients: Results of a pilot randomised controlled trial.

BACKGROUND: Optimising first time success of peripheral intravenous catheter (PIVC) insertion and reducing intravenous (IV) complications in cancer patients undergoing contrast-enhanced computed tomography (CT) is vital to ensure vascular access preservation and diagnostic accuracy. The aim of this study was to test the feasibility of a randomised controlled trial (RCT) evaluating a novel perforated PIVC compared to a standard PIVC. METHODS: A single centre, parallel-group, pilot RCT was conducted between March and May 2020. Adult participants diagnosed with cancer were randomised to a non-perforated PIVC (standard care) or a PIVC with a novel perforated design (intervention) for the administration of IV contrast. There were two primary outcomes: (1) feasibility of an adequately powered RCT with pre-established criteria; and (2) all-cause PIVC failure. Secondary outcomes included: first insertion success, modes of PIVC failure, dwell time, contrast injection parameters (volume and injection rate), contrast enhancement, radiographer satisfaction and adverse events. RESULTS: Feasibility outcomes were met, except for eligibility (⩾90%) and recruitment (⩾90%). In total, 166 participants were screened, 128 (77%) were eligible and of these 101/128 (79%) were randomised; 50 to standard care and 51 to intervention. First time insertion rate was 94% (47/50) in standard care and 90% (46/50) in intervention. The median dwell time was 37 minutes (interquartile range (IQR): 25-55) in standard care and 35 minutes (IQR: 25-60) in the intervention group. There was one PIVC failure, a contrast media extravasation, in the intervention group (1/51; 2%). The desired contrast injection rate was not achieved in 4/101 (4%) of participants; two from each group. Radiographers were satisfied with the contrast flow rate. CONCLUSIONS: This pilot RCT suggests perforated PIVCs provide expected flow rate, with no evidence of differences in contrast enhancement to non-perforated PIVCs. The feasibility of conducting a larger powered RCT was demonstrated.

BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.

The BRCA1-associated protein 1 ( BAP1 ) gene encodes a tumor suppressor that functions as a ubiquitin hydrolase involved in DNA damage repair. BAP1 germline mutations are associated with increased risk of multiple solid malignancies, including mesothelioma, uveal melanoma, renal cell carcinoma, and high-grade rhabdoid meningiomas. Here, we describe the case of a 52-yr-old woman who experienced multiple abdominal recurrences of an ovarian sex cord-stromal tumor that was originally diagnosed at age 25 and who was found to have a germline mutation in BAP1 and a family history consistent with BAP1 tumor predisposition syndrome. Recurrence of the sex cord-stromal tumor demonstrated loss of BAP1 expression by immunohistochemistry. Although ovarian sex cord-stromal tumors have been described in mouse models of BAP1 tumor predisposition syndrome, this relationship has not been previously described in humans and warrants further investigation. The case presentation, tumor morphology, and immunohistochemical findings have overlapping characteristics with peritoneal mesotheliomas, and this case represents a potential pitfall for surgical pathologists.

Disparities in Genetic Testing for Heritable Solid-Tumor Malignancies.

Genetic testing offers providers a potentially life saving tool for identifying and intervening in high-risk individuals. However, disparities in receipt of genetic testing have been consistently demonstrated and undoubtedly have significant implications for the populations not receiving the standard of care. If correctly used, there is the potential for genetic testing to play a role in decreasing health disparities among individuals of different races and ethnicities. However, if genetic testing continues to revolutionize cancer care while being disproportionately distributed, it also has the potential to widen the existing mortality gap between various racial and ethnic populations.

Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.

OBJECTIVE: Genetically tractable fruit flies have been used for decades to study seizure disorders. However, there is a paucity of data specifically correlating fly and human seizure phenotypes. We have previously shown that mutation of orthologous PRICKLE genes from flies to humans produce seizures. This study aimed to determine whether the prickle-mediated seizure phenotypes in flies closely parallel the epilepsy syndrome found in PRICKLE patients. METHODS: Virtually all fly seizure studies have relied upon characterizing seizures that are evoked. We have developed two novel approaches to more precisely characterize seizure-related phenotypes in their native state in prickle mutant flies. First, we used high-resolution videography to document spontaneous, unprovoked seizure events. Second, we developed a locomotion coordination assay to assess whether the prickle mutant flies were ataxic. Third, we treated the mutant flies with levetiracetam to determine whether the behavioral phenotypes could be suppressed by a common antiepileptic drug. RESULTS: We find that the prickle mutant flies exhibit myoclonic-like spontaneous seizure events and are severely ataxic. Both these phenotypes are found in human patients with PRICKLE mutations, and can be suppressed by levetiracetam, providing evidence that the phenotypes are due to neurological dysfunction. These results document for the first time spontaneous, unprovoked seizure events at high resolution in a fly human seizure disorder model, capturing seizures in their native state. INTERPRETATION: Collectively, these data underscore the striking similarities between the fly and human PRICKLE-mediated epilepsy syndromes, and provide a genetically tractable model for dissecting the underlying causes of the human syndromic phenotypes.