Acute aortic occlusion (AAO) is an uncommon but potentially devastating vascular emergency with reported perioperative mortality rates of up to 75%. We present the case of AAO in a 69-year-old woman who was transferred to our institution after presenting with sudden onset bilateral acute limb ischaemia. Imaging showed a completely obstructed aortoiliac segment with renal infarcts. She was treated successfully with aortoiliac over the wire thrombectomy.

Personalized medicine relies upon the successful identification and translation of predictive biomarkers. Unfortunately, biomarker development has often fallen short of expectations. To better understand the obstacles to successful biomarker development, we systematically mapped research activities for a biomarker that has been in development for at least 12 years: excision repair cross-complement group 1 protein (ERCC1) as a biomarker for predicting clinical benefit with platinum-based chemotherapy in non-small cell lung cancer. We found that although research activities explored a wide range of approaches to ERCC1 testing, there was little replication or validation of techniques, and design and reporting of results were generally poor. Our analysis points to problems with coordinating and standardizing research in biomarker development. Clinically meaningful progress in personalized medicine will require concerted efforts to address these problems. In the interim, health care providers should be aware of the complexity involved in biomarker development, cautious about their near-term clinical value, and conscious of applying only validated diagnostics in the clinic. The Oncologist 2017;22:89-96 Implications for Practice: Many hospitals, policy makers, and scientists have made ambitious claims about the promise of personalizing cancer care. When one uses a case example of excision repair cross-complement group 1 protein-a biomarker that has a strong biological rationale and that has been researched for 12 years-the current research environment seems poorly suited for efficient development of biomarker tests. The findings provide grounds for tempering expectations about personalized cancer care-at least in the near term-and shed light on the current gap between the promise and practice of personalized medicine.

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Background: Method prespecification in study protocols is important for controlling bias in reports. The primary goal of this study was to assess potential for discordance between study protocols and publications reporting predictive or prognostic cancer biomarker research. Secondary objectives included comparing characteristics of publications with accessible protocols compared to those without. Methods: Publications reporting predictive or prognostic cancer biomarker research were identified from 15 major journals, 2012–2015. Protocols were sought online or through repeated queries of corresponding authors. The following four items were extracted: (1) biomarkers, (2) biospecimen/assays, (3) sample size, (4) endpoints. We defined “explicit discordance” as the presence of major inconsistencies on these items. Results: Of 149 eligible publications, we obtained 19 eligible protocols online (13%). Out of a random sample of 103 publications where protocols were not available online, 12 protocols (12%) were furnished by corresponding authors; 8 (8% of authors) explicitly stated the absence of a protocol. Among 24 retrospective cohort studies, no protocol could be accessed. We found explicit discordance between publications and protocols for 18 studies (58%), in particular choice of biomarkers (36%), biospecimen/assays (6%), or endpoints (29%). Conclusion: Protocols are generally not accessible or not used for cancer biomarker studies. Publications were often explicitly discordant with protocols, particularly regarding biomarkers and endpoints. Our findings point to common unaddressed risk of bias in publications of major journals reporting the relationship between cancer biomarkers and clinical endpoints.

The genetic underpinnings of schizophrenia (SCZ) remain unclear. SCZ genetic studies thus far have only identified numerous single nucleotide polymorphisms with small effect sizes and a handful of copy number variants (CNVs). This study investigates the prevalence of well-characterized CNV syndromes and candidate CNVs within a cohort of 348 SCZ patients, and explores correlations to their phenotypic findings. There was an enrichment of syndromic CNVs in the cohort, as well as brain-related and immune pathway genes within the detected CNVs. SCZ patients with brain-related CNVs had increased CNV burden, neurodevelopmental features, and types of hallucinations. Based on these results, we propose a CNV-SCZ model wherein specific phenotypic profiles should be prioritized for CNV screening within the SCZ patient population.