On the basis of floristic analysis, the occurrence of 132 taxons of plankton algae in Koronowski Reservoir was determined. The spring and autumn plankton was dominated by diatoms, while summer plankton by blue-green algae. The species composition, structure of the abundance of algae and concentration of chlorophyll as well as physicochemical conditions of water suggested a highly eutrophic character of this reservoir with a starting expansion of blue-green algae, mainly species considered to be toxic.
Abstract: Authors present the case of a 15-year-old boy assessed for Marfan syndrome for many years. The child was treated because of skeletal defects, mild mental deficiency and dysmorphic features of face. Chromosomal analysis showed a trisomy 8 mosaicism.
AP-1 transcription factor known to play a role in cell proliferation and neuronal activation, it is also involved in apoptosis of cells in response to stress, DNA damaging agents or lack of survival signals. AP-1 DNA binding complex is not a single transcritpion factor but a dimer consisting of members of Fos and Jun families. In this review, we discuss evidence that composition of the AP-1 complex is different under various physiological and pathophysiological conditions. Furthermore, we describe biochemical properties of Fos and Jun proteins that may explain the ability of this transcription factor to activate different sets of genes in response to different stimuli. We propose a hypothesis that AP-1 might contribute to distinct biological processes because an activation of specific signaling pathways results in changes of AP-1 composition and/or phosphorylation status and modulates its transactivating potential towards different promoters.
In this study we describe a 3-generation family carrying a (X;Y)(p22.3;q11.2) translocation in seven individuals of both sexes. Molecular analysis of the aberrant (X;Y)(p22.3;q11.2) chromosome was performed by FISH using X and Y-specific painting probes and also PCR amplification of the Y-specific sequences. Using these approaches it was demonstrated that the translocation resulted in a deletion of both X and Y pseudoautosomal regions. Moreover, using RBG banding it was shown that in all females the X-derivative chromosome was inactive in over 90% of mitoses. From the preliminary results obtained in this study we assumed that in this particular family the observed phenotype of the patients was caused by a deletion of the cluster of pseudoaotosomal genes responsible for the stature. More proximal loci, like STS or MRX49, were probably not deleted, since neither ichtyosis nor mental retardation was observed in this family.
We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation
Many of H. pylori strains causing gastroduodenal diseases have a cagA gene encoding CagA protein, a virulence factor of these bacteria. Anti-CagA antibodies produced by majority of people infected with CagA(+) strains can indicate such infection. In this study the efficacy of three immunoenzymatic tests: immunoblot (MileniaID Blot H. pylori IgG, DPC Biermann GmbH, Germany) (MB) and ELISA, conducted with a recombinant immunodominant fragment of CagA (rCagA) and full length CagA molecule (flCagA), in detecting CagA(+) and CagA(-) infections, was compared. The 13C urea breath test (13C-UBT) was used for establishing H. pylori status. The serum samples from 157 individuals were used for serodiagnosis. The H. pylori CagA(+) infection was detected in H. pylori infected individuals with similar frequency by MB (64%) and flCagA-ELISA (60%) and little less frequently by rCagA-ELISA (53%). There was a high coincidence between the negative results of these three tests for H. pylori uninfected individuals with no anti-CagA IgG in the serum (96-100%). The results show that rCagA-ELISA and especially flCagA-ELISA are easy, inexpensive and useful noninvasive assays for discrimination of CagA(+) and CagA(-) H. pylori infections in the subjects examined by urea breath test.
Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.
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