Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations

Inherited factor XIII (FXIII) deficiency is known as one of the most rare blood coagulation disorder in humans. In the present study, phenotype and genotype of eight FXIII deficient Polish patients from five unrelated families were compared. The patients presented with a severe phenotype demonstrated by a high incidence of intracerebral haemorrhages (seven of eight patients), haemarthrosis (six patients) and bleeding due to trauma (five patients). Introduction of regular substitution with FXIII concentrate prevented spontaneous bleeding in seven patients. In all patients, mutations within the F13A gene have been identified revealing four missense mutations (Arg77Cys, Arg260Cys, Ala378Pro, Gly420Ser), one nonsense mutation (Arg661X), one splice site mutation (IVS5-1 G>A) and one small deletion (c.499-512del). One homozygous large deletion involving exon 15 was detected by failure of PCR product. The corresponding mutations resulted in severely reduced FXIII activity and FXIII A-subunit antigen concentration, while FXIII B-subunit antigen remained normal or mildly decreased. Structural analysis demonstrated that the novel Ala378Pro mutation may cause a disruption of the FXIII catalytic triad leading to a non-functional protein which presumably undergoes premature degradation. In conclusion, the severe phenotype with high incidence of intracranial bleeding and haemarthrosis was in accordance with laboratory findings on FXIII and with severe molecular defects of the F13A gene.

‎101011 manuscripts: Perl and the Chronicle of Matthew of Edessa‎

The Chronicle of Matthew of Edessa is a twelfth-century Armenian history that survives in 43 manuscripts, held in ten libraries in eight countries. My task is to create a definitive text that is based on all of them. I will talk about the problems of medieval text editing, the ways in which Perl and phylogenetics have come to my rescue, and show a few pretty pictures of manuscripts

10001 manuscripts in practice: Perl, XML, medieval chronicles, and why Unicode rocks‎

I work in the field of Armenian historiography. This means I get to play with medieval manuscripts. The things I'm doing with the manuscripts are theoretically interesting, but pretty boring in practice, so I'm using Perl to program away the most boring bits. I will talk about the problems of text criticism in general, what sorts of things can and can't be done by the computer, my initial aversion to XML, how I was shown (some of) the error of my ways, and how I'm combining a bunch of isolated pieces of technology that were mostly already in use to achieve fame and fortune in the world of Armenian studies.

The macro level effects of gender - (un)fair language in Polish

A recent analysis of more than 100 countries found that the extent to which their languages grammatically allowed for an asymmetric treatment of men and women correlated with socio-economic indices of gender inequality (Prewitt-Freilino, Caswell, & Laakso, 2012). In a set of four studies we examine whether the availability of feminine forms as indicated by the most recent dictionaries (1) predicts the actual percentage of women and gender wage gap for all professions registered in Poland; (2) predicts the longitudinal pattern of use of the occupational job-titles; (3) relates to social perception of the sample of 150 professions.