The Canadian “National Program for hemophilia mutation testing” database: A ten‐year review

A reference genotyping laboratory was established in 2000 at Queen's University, Kingston, to provide genetic testing for Hemophilia A (HA) and B (HB) and create a Canadian mutation database. Canadian hemophilia treatment centers and genetics clinics provided DNA and clinical information from November 2000 to March 2011. The factor VIII (F8) gene was analyzed in 1,177 patients (47% of HA population) and 787 female family members and the factor IX (F9) gene in 267 patients (47% of HB population) and 123 female family members, using Southern Blot, PCR, conformation sensitive gel electrophoresis, and/or direct sequencing. The mutation detection rates for HA and HB were 91% and 94%, respectively. 380 different F8 mutations were identified: inversions of intron 22 and intron 1, 229 missense, 45 nonsense, eight deletions, 70 frameshifts, 25 splice site, and one compound mutation with a splice site and intron 1 inversion. Of these mutations, 228 were novel to the Hemophilia A Database (HADB, http://hadb.org.uk/ ). A total 125 different F9 mutations were identified: 80 missense, 12 frameshift, 12 splice site, nine nonsense and seven promoter mutations, three large deletions, and two compound mutations with both missense and nonsense changes. Of these mutations, 36 were novel to the International Haemophilia B Mutation database ( http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html ). The Canadian F8 and F9 mutation database reflects the allelic heterogeneity of HA and HB, and is similar to previously described populations. This report represents the largest and longest duration experience of a national hemophilia genotyping program documented, to date. Am. J. Hematol. 88:1030–1034, 2013. © 2013 Wiley Periodicals, Inc.     

Hazards after the storm: Floodwater drainage pump stations and exposure to hydrogen sulfide

A hurricane can present unique hazards that exist long after the strong winds and heavy rains have subsided. These hazards may not only be physical, but chemical as well. Hydrogen sulfide (H₂S) represents an important and potentially overlooked hazard that can be naturally produced in floodwaters following a hurricane. In August of 2012, in the wake of Hurricane Isaac, Plaquemines Parish, Louisiana was submerged under a blanket of floodwater. To remove floodwaters that had breached the levee system designed to keep water out, temporary drainage pump stations were installed at strategic locations. The transfer of floodwaters at these drainage stations resulted in the generation of elevated concentrations of airborne H₂S at the pumping stations. The generation of H₂S at these pumping stations represented a potential inhalation hazard for workers; thus, awareness for possible H₂S exposure at these installments is crucial.     

Activity of CD101, a long-acting echinocandin,against clinical isolates of Candida auris

CD101 is a new echinocandin with a prolonged half-life. CD101 was tested by broth microdilution against 100 isolates of the emerging yeast Candida auris. It showed activity against most isolates, including some that were resistant to other echinocandins.     

Monkey visual behavior falls into the uncanny valley

Very realistic human-looking robots or computer avatars tend to elicit negative feelings in human observers. This phenomenon is known as the “uncanny valley” response. It is hypothesized that this uncanny feeling is because the realistic synthetic characters elicit the concept of “human,” but fail to live up to it. That is, this failure generates feelings of unease due to character traits falling outside the expected spectrum of everyday social experience. These unsettling emotions are thought to have an evolutionary origin, but tests of this hypothesis have not been forthcoming. To bridge this gap, we presented monkeys with unrealistic and realistic synthetic monkey faces, as well as real monkey faces, and measured whether they preferred looking at one type versus the others (using looking time as a measure of preference). To our surprise, monkey visual behavior fell into the uncanny valley: They looked longer at real faces and unrealistic synthetic faces than at realistic synthetic faces.