Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>DNAI1 </it>gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the <it>DNAI1 </it>involvement in PCD pathogenesis differ among the reported studies, ranging from 4% to 10%.</p> <p>Methods</p> <p>The coding sequence of <it>DNAI1 </it>was screened (SSCP analysis and direct sequencing) in a group of PCD patients (157 families, 185 affected individuals), the first ever studied large cohort of PCD patients of Slavic origin (mostly Polish); multiplex ligation-dependent probe amplification (MLPA) analysis was performed in a subset of ~80 families.</p> <p>Results</p> <p>Three previously reported mutations (IVS1+2-3insT, L513P and A538T) and two novel missense substitutions (C388Y and G515S) were identified in 12 families (i.e. ~8% of non-related Polish PCD patients). The structure of background SNP haplotypes indicated common origin of each of the two most frequent mutations, IVS1+2-3insT and A538T. MLPA analysis did not reveal any significant differences between patients and control samples. The Polish cohort was compared with all the previously studied PCD groups (a total of 487 families): IVS1+2-3insT remained the most prevalent pathogenetic change in <it>DNAI1 </it>(54% of the mutations identified worldwide), and the increased global prevalence of A538T (14%) was due to the contribution of the Polish cohort.</p> <p>Conclusions</p> <p>The worldwide involvement of <it>DNAI1 </it>mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%; this global estimate as well as the mutation profile differs in specific populations. Analysis of the background SNP haplotypes suggests that the increased frequency of chromosomes carrying A538T mutations in Polish patients may reflects local (Polish or Slavic) founder effect. Results of the MLPA analysis indicate that no large exonic deletions are involved in PCD pathogenesis.</p

Representatives of the genus Craniscus Dali, 1871, from the Upper Oxfordian of Bielawy and Wapienno in Kujawy area

The presented paper contains a detailed description of four species of the genus Craniscus DalI, 1871, found in the Upper Oxfordian of Bielawy and Wapienno quarries, Kujawy area. Three of them: Craniscus bipartitus (Munster, 1837), Craniscus antiquior (Jelly, 1843) and Craniscus corallinus (Quenstedt, 1852) have already been described from Poland, the fourth, however - Craniscus tripartitus (Munster, 1840), had only been known from the Lower Oxfordian of North Bavaria. The Craniscus specimens come from slope deposits of sponge-microbialitic bioherm. This is indicated by the fact that almost all specimens are dorsal valves, separated posthumously from ventral valves. The condition of some specimens and the rock lithology suggests, that the deposition was very violent in some cases and brachiopods were buried alive. The studied material is relatively well-preserved, which alIowes an accurate reading of the location of muscle scal's

Complex history of studies of Devonian vertebrates in Poland

We all represent a great group of vertebrates, Tetrapoda. Nowadays this is diversified and large taxon which includes eg. dogs, elephants, frogs as well as snakes, sparrows and dolphins. All of them (and us) have a common ancestor which lived in area of the present-day Holy Cross Mountains over 395 myr ago, that is in the Middle Devonian times (Niedźwiedzki et al., 2010). In this paper we recall our great scientists who made first steps in this field and opened the way for the next discoveries. We also present a brief history of Polish vertebrate paleontology. Last years of XIX and the beginning of XX century gave us many classical papers written by great geologists such as Georg Gürich and Jan Czarnocki. They created a general framework for the recent knowledge about the Devonian of the Holy Cross Mountains and collected many important specimens subsequently investigated by paleontologists - Zinaida Gorizdro-Kulczycka, Julian Kulczycki, Michał Ginter and authors of this paper. One of those paleontologists - Julian Kulczycki - created a scientific basis for Polish centre of studies on Paleozoic vertebrates. Because of reasons independent of him, Kulczycki could not achieve this goal. Inspired by Kulczycki’s work as well as our discovery of footprints of first tetrapods and other new finds we decided to form a working group of young scientists to carry out further investigations. The studies are to be conducted in the Holy Cross Mountains Paleontological Laboratory which is being organized in the Kielce branch of the Polish Geological Institute - National Research Institute and in close cooperation with several national and foreign research centers

Relationship of red splenic arteriolar hyaline with rapid death: a clinicopathological study of 82 autopsy cases

<p>Abstract</p> <p>Background</p> <p>Little is known about the relationship between splenic arteriolar hyaline and cause of death. The purpose of this retrospective study was to evaluate the clinicopathological significance of splenic arteriolar hyaline in autopsy cases and estimate the applicability of hyaline for diagnosing the cause and rapidity of death.</p> <p>Methods</p> <p>Archival data and histological slides from 82 cases were reviewed retrospectively. One section of each spleen was evaluated microscopically. The tinctorial pattern of splenic arteriolar hyaline was examined with Heidenhain’s Azan trichrome stain, and the relationships between this pattern and age, cause of death, and rapidity of death were investigated.</p> <p>Results</p> <p>Fifty-four cases demonstrated hyaline change, with 3 different tinctorial patterns: red, blue, and a combination of red and blue. The 3 patterns coexisted in various proportions in each tissue section. Frequency of the blue pattern increased with age (<it>P</it> < 0.01) and was unrelated to cause of death. By contrast, the red pattern was unrelated to age and appeared with different frequency according to cause of death. The red pattern appeared with significantly higher frequency in the circulatory disease group and the drowning and asphyxia group (both <it>P</it> < 0.01). Moreover, the presence of the red pattern had high specificity for the detection of rapidly fatal cases. The combination of the 2 colors was excluded from clinicopathological analyses due to its admixed nature.</p> <p>Conclusions</p> <p>Estimation of splenic arteriolar hyaline with Heidenhain’s Azan trichrome stain is useful for assessment of the cause and rapidity of death.</p> <p>Virtual slides</p> <p>The virtual slide(s) for this article can be found here: <url>http://www.diagnosticpathology.diagnomx.eu/vs/1132441651796836</url></p