No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia.

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

The aim of this study was to assess the natural history of the SCO2 deficiency in relation to the genotype in a cohort of 62 patients with SCO2 mutations (36 this study, 26 previous reports). A novel, milder phenotype (disease onset delayed until one year after birth, nonspecific encephalomyopathy, and 2-4 year survival period) associated with compound heterozygosity of the common p.E140K and a novel p.

Ensemble fits of restrained peptides' conformational equilibria to NMR data. Dependence on force fields: AMBER/8 ff03 versus ECEPP/3.

Two variants of NMR-based conformational analyses of flexible peptides are compared using two examples meeting the formula Tyr-D-Daa-Phe-Daa-NH₂ (Daa=diamino acid): 1 combining D-Dab² (α,γ-diaminobutyryl) with Lys⁴, and 2 -D-Dap² (α,β-diaminopropionyl) with Orn⁴. The ω-amino groups of D-Daa² and Daa⁴ are coupled with C=O into the urea, restraining 1 and 2 with 16- and 14-membered rings and leading to potent and impotent μ/δ opioid peptides, respectively. To the current task, we took from an earlier work (Filip et al, J.

Diversity of 15 human X chromosome microsatellite loci in Polish population.

X-STR analysis is a powerful tool in both phylogeny reconstruction and forensic investigation. Hereby, we provide new population data concerning 15 X-STR loci (included in commercially available typing kit Mentype Argus X-8 (Biotype AG, Dresden, Germany) (DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423) and another seven (DXS6807, DXS9898, DXS101, DXS7424, DXS7133, DXS8377 and DXS10011) that were previously described by Poetsch et al. [1] obtained from a sample of 311 individuals from Poland and compared to the results previously obtained from other populations of European, Asian and African origin [2-4].

[Identification of semen in bloodstains with the use of alternative light source and biochemical screening tests].

The objective of the investigation was the verification of the presence of semen in stains constituting mixtures of semen and blood employing alternative light source (ALS) and commercially available biochemical screening tests based on the activity of acid phosphatase (AP) and prostate-specific antigen (PSA). The tests demonstrated that discrimination between particular components of a blood-semen mixture was impossible either with the naked eye, as well as with the use of ALS. White fluorescence was observed only in stains consisting of pure semen and semen-blood mixtures at a ratio of 100:1.

[Genetic type of Helicobacter pylori and the efficacy of eradication therapy].

Unlabelled: Helicobacter pylori is one of the most popular bacteria in the world. The H. pylori infection is an etiological factor of permanent changes in inflammatory of stomach mucous membrane, peptic ulcer of the stomach and duodenum disease and stomach cancer or mucosa associated lymphoid tissue from lymphoid tissue of mucous membrane.

Conformation-activity relationships of cyclo-constrained micro/delta opioid agonists derived from the N-terminal tetrapeptide segment of dermorphin/deltorphin.

The N-terminal tetrapeptide segments of dermorphin (Tyr-D-Ala-Phe-Gly-Tyr-Pro-Ser-NH(2)) and deltorphin (Tyr-D-Ala-Phe-Asp/Glu-Val-Val-Gly-NH(2)) are agonists at the opioid receptors micro and delta, respectively. [D-Arg(2), Lys(4)]-dermorphin-(1-4) amide (Tyr-D-Arg-Phe-Lys-NH(2), DALDA) and [Dmt(1)]DALDA (where Dmt is 2',6'-dimethyltyrosine) are among the most potent and selective micro-agonists reported to date, both in vitro (having picomolar micro receptor affinity) and in vivo. In this communication, conformation-activity studies of the following four cyclic analogs of DALDA are presented and discussed: the lead peptide S(2),S(4)-cyclo (Tyr-D-Cys-Phe-Cys-NH(2)), constrained by means of an S(4.

[A comparison of the Bluestar and luminol effectiveness in bloodstain detection].

The objective of the present study was to compare the effectiveness of two chemical agents--Bluestar and luminol--in detection of bloodstains. The experiments were performed to test for bloodstain detection sensitivity, chemical stability and to investigate the effect of both reagents on DNA typing. During this study, the authors prepared serial dilutions (1:2 to 1:10 000 000) of fresh blood, as well as dilutions of 25-year old blood on Whatman 3MM blotting paper.

[Phylogeographic approach in the interpretation of mitochondrial DNA sequencing results in forensics].

In recent years, forensic mitochondrial DNA analysis has been undertaken from an evolutionary perspective. In particular, the phylogeographic approach based on a phylogenetic analysis of the spatial distribution of mitochondrial haplotypes and haplogroups appears to be a useful tool in the interpretation of identification cases. In this study, the phylogeographic approach has been employed in the analysis of three difficult forensic cases, where single nucleotide, homoplasmic differences were found between the reference and evidentiary haplotypes.

[Correlations between haplogroup membership and Y-STR haplotype as a potential measure of quality control in forensic examinations].

A correlation between particular Y-STR alleles from the so-called "minimal haplotype" and haplogroup membership of the Y chromosome was tested. We collected 146 Y chromosomes from haplogroups R1*, R1a1* and 1* and estimated the frequency of Y-STR alleles in each haplogroup. We then used different algorithms to assign a haplogroup to a haplotype, and tested their accuracy.