Congenital dyserythropoietic anemia (CDA) was first described in 1967. Soon after the first reports, it became evident that different types exist (1), which share ineffective erythropoiesis as the main mechanism of the anemia and which are all characterized by morphological abnormalities of the erythroblasts, but which are of distinct phenotype and genotype. Specific diagnostic data were first reported from indigenous populations and from AbstractCongenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this retrospective study was to estimate the frequency of CDA I and II, based on all cases reported in the last 42 yr in publications and identified registries or surveys. Reports were collected of 124 and 377 confirmed cases of CDA I and CDA II cases, respectively. The cumulated incidence of both types combined varied widely between European regions, with minimal values of 0.08 cases ⁄ million in Scandinavia and 2.60 cases ⁄ million in Italy. CDA II is more frequent than CDA I, with an overall ratio of approximately 3.2, but the ratio also varied between different regions. The most likely explanations for the differences are both differences in the availability of advanced diagnostic procedures and different levels of the awareness for the diagnosis of the CDAs. The estimations reported here are most probably below the true incidence rates, because of failure to make the correct diagnosis and to underreporting. Limited data do not suggest differing levels of risk in identified ethnic groups.

Transfusion-related acute lung injury (TRALI) is suggested to be a "two hit" event, resulting from priming and activation of pulmonary neutrophils. It is known that neutrophil activation may result from infusion of lysophosphatidylcholines (LysoPCs) accumulated during storage of blood components. The aim of our study was to verify whether the LysoPCs are released into the storage medium of blood components. We measured the LysoPCs concentration in the supernatants from stored apheresis platelet concentrates (PLTs), packed non-leukoreduced red blood cell concentrates (RBCs), leukoreduced red blood cell concentrates (L-RBCs), fresh frozen plasma (FFP) and donor plasma (control). Lipids were separated on high-performance thin-layer chromatography, detected by primulin spray and quantified by photodensitometric scanning. The LysoPCs concentration in donor plasma was similar to that in FFP. During storage the LysoPCs content in PLTs increased almost two-fold as compared to the fresh isolated platelets. In RBCs and L-RBCs the LysoPC level was very low or below detection limit and did not increase throughout the storage period. According to our observations bioactive LysoPCs may be considered a neutrophil-activating factor only following PLT transfusions but not RBCs transfusions.

Immune character of PTR was confirmed mainly in 1/5 TRALI cases. Among non-immune factors, only MPs released from stored RBCs are suggested as potential mediators of TRALI. Our results require further observations in a more numerous and better defined group of patients.

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Two temperature-sensitive Saccharomyces cerevisiae mutants, sec59-1 and dpm1-6, impaired, respectively, in dolichol kinase (Sec59p) and dolichyl phosphate mannose (DolPMan) synthase (Dpm1p), have an aberrant cell wall structure and composition. We tested their sensitivity to four classes of antifungal drugs used in clinical practice: 5-fluorocytosine, amphotericin B, caspofungin and itraconasole. The strains were resistant to itraconazole and sensitive to the other drugs used. The minimal inhibitory concentration (MIC) of caspofungin and amphotericin B was two-fold lower for sec59-1 and dpm1-6 than for the respective wild-type strains. The sensitivity of both mutants could be brought back to the wild-type level by a multicopy suppressor of the thermosensitive phenotype, the RER2 gene, encoding cis-prenyltransferase involved in dolichol biosynthesis. Biochemical analysis revealed slight changes of the cell wall composition, different in the mutants as compared to the wild-type in response to the drugs. Our data strongly support a relationship between dolichol phosphate level, protein glycosylation and antifungal sensitivity.