GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

The implementation of high-throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, and platelet disorders (BTPD), and revealed multiple genetic variants linked to those disorders, many of them being of uncertain pathogenicity when considering the accepted evidence (variant consequence, frequency in control datasets, number of reported patients, prediction models, and functional assays). The sequencing effort has also resulted in resources for gathering disease-causing variants associated with specific genes, but for BTPD, such well-curated databases exist only for a few genes. On the other hand, submissions by individuals or diagnostic laboratories to the variant database ClinVar are hampered by the lack of a submission process tailored to capture the specific features of hemostatic diseases. As we move toward the implementation of HTS in the diagnosis of BTPD, the Scientific and Standardization Committee for Genetics in Thrombosis and Haemostasis has developed and tested a REDCap-based interface, aimed at the community, to submit curated genetic variants for diagnostic-grade BTPD genes. Here, we describe the use of the interface and the initial submission of 821 variants from 30 different centers covering 14 countries. This open-access variant resource will be shared with the community to improve variant classification and regular bulk data transfer to ClinVar.

Hospital Analgesia Practices and Patient-reported Pain After Colorectal Resection.

OBJECTIVE: The aim of the study was to characterize patient-reported outcomes of analgesia practices in a population-based surgical collaborative. BACKGROUND: Pain control among hospitalized patients is a national priority and effective multimodal pain management is an essential component of postoperative recovery, but there is little understanding of the degree of variation in analgesia practice and patient-reported pain between hospitals. METHODS: We evaluated patient-reported pain scores after colorectal operations in 52 hospitals in a state-wide collaborative. We stratified hospitals by quartiles of average pain scores, identified hospital characteristics, pain management practices, and clinical outcomes associated with highest and lowest case-mix-adjusted pain scores, and compared against Hospital Consumer Assessment of Healthcare Providers and Systems pain management metrics. RESULTS: Hospitals with the lowest pain scores were larger (503 vs 452 beds; P < 0.001), higher volume (196 vs 112; P = 0.005), and performed more laparoscopy (37.7% vs 27.2%; P < 0.001) than those with highest scores. Their patients were more likely to receive local anesthesia (31.1% vs 12.9%; P < 0.001), nonsteroidal anti-inflammatory drugs (33.5% vs 14.4%; P < 0.001), and patient-controlled analgesia (56.5% vs 22.8%; P < 0.001). Adverse postoperative outcomes were less common in hospitals with lowest pain scores, including complications (20.3% vs 26.4%; P < 0.001), emergency department visits (8.2% vs 15.8%; P < 0.001), and readmissions (11.3% vs 16.2%; P = 0.01). CONCLUSIONS: Pain management after colorectal surgery varies widely and predicts significant differences in patient-reported pain and clinical outcomes. Enhanced postoperative pain management requires dissemination of multimodal analgesia practices. Attention to patient-reported outcomes often omitted from surgical outcomes registries is essential to improving quality from the patient's perspective.

Whole-genome shotgun sequence of Rhodococcus species strain JVH1.

Here we present a whole-genome shotgun sequence of Rhodococcus species strain JVH1, an organism capable of degrading a variety of organosulfur compounds. In particular, JVH1 is able to selectively cleave carbon-sulfur bonds within alkyl chains. A large number of oxygenases were identified, consistent with other members of the genus.