A Multi-Faceted Analysis Showing CRNDE Transcripts and a Recently Confirmed Micropeptide as Important Players in Ovarian Carcinogenesis.

CRNDE is considered an oncogene expressed as long non-coding RNA. Our previous paper is the only one reporting CRNDE as a micropeptide-coding gene. The amino acid sequence of this micropeptide (CRNDEP) has recently been confirmed by other researchers. This study aimed at providing a mass spectrometry (MS)-based validation of the CRNDEP sequence and an investigation of how the differential expression of CRNDE(P) influences the metabolism and chemoresistance of ovarian cancer (OvCa) cells. We also assessed cellular localization changes of CRNDEP, looked for its protein partners, and bioinformatically evaluated its RNA-binding capacities. Herein, we detected most of the CRNDEP sequence by MS. Moreover, our results corroborated the oncogenic role of CRNDE, portraying it as the gene impacting carcinogenesis at the stages of DNA transcription and replication, affecting the RNA metabolism, and stimulating the cell cycle progression and proliferation, with CRNDEP being detected in the centrosomes of dividing cells. We also showed that CRNDEP is located in nucleoli and revealed interactions of this micropeptide with p54, an RNA helicase. Additionally, we proved that high CRNDE(P) expression increases the resistance of OvCa cells to treatment with microtubule-targeted cytostatics. Furthermore, altered CRNDE(P) expression affected the activity of the microtubular cytoskeleton and the formation of focal adhesion plaques. Finally, according to our in silico analyses, CRNDEP is likely capable of RNA binding. All these results contribute to a better understanding of the CRNDE(P) role in OvCa biology, which may potentially improve the screening, diagnosis, and treatment of this disease.

Mitochondrial Genome Variation in Polish Elite Athletes.

Energy efficiency is one of the fundamental athletic performance-affecting features of the cell and the organism as a whole. Mitochondrial DNA (mtDNA) variants and haplogroups have been linked to the successful practice of various sports, but despite numerous studies, understanding of the correlation is far from being comprehensive. In this study, the mtDNA sequence and copy number were determined for 99 outstanding Polish male athletes performing in power (n = 52) or endurance sports (n = 47) and 100 controls. The distribution of haplogroups, single nucleotide variant association, heteroplasmy, and mtDNA copy number were analyzed in the blood and saliva. We found no correlation between any haplogroup, single nucleotide variant, especially rare or non-synonymous ones, and athletic performance. Interestingly, heteroplasmy was less frequent in the study group, especially in endurance athletes. We observed a lower mtDNA copy number in both power and endurance athletes compared to controls. This could result from an inactivity of compensatory mechanisms activated by disadvantageous variants present in the general population and indicates a favorable genetic makeup of the athletes. The results emphasize a need for a more comprehensive analysis of the involvement of the mitochondrial genome in physical performance, combining nucleotide and copy number analysis in the context of nuclear gene variants.

Association of serotoninergic pathway gene variants with elite athletic status in the Polish population.

Genetic factors are known to influence sport performance. The aim of the present study was to assess genetic variants in genes coding for proteins potentially modulating activity of brain emotion centres in a group of 621 elite athletes (212 endurance, 183 power and 226 combat athletes) and 672 sedentary controls. Ten statistically significant variants were identified in genes encoding elements of serotoninergic, catecholaminergic and hypothalamic-pituitary-adrenal systems in different sport groups. Of those the rs860573 variant in the FEV gene coding for transcription factor exclusively expressed in neurons of the central serotonin system is the only one whose frequency significantly differentiates all the groups of athletes studied, regardless of discipline, from the controls (p = 0.000026). Our results support the hypothesis that genetic variants potentially affecting mental processes and emotions, particularly in the serotonergic pathway, also influence the predispositions to athletic performance.

[Chemical analysis of wastewater as a new way of monitoring drugs and medicines consumption at workplace]. / Analiza chemiczna scieków jako nowy sposób monitorowania stosowania narkotyków i leków w miejscu pracy.

The available information on the quality and frequency of illegal psychoactive substances used or medicines misused by workers, are often out of date at the time of its publication. This is due to the dynamic introduction of new synthetic drugs on the black market, changes in trends in the recreational use of medicines and the lack of readily available and reliable tests for fast identification. Strategy for detection of narcotic and non-medical psychoactive drugs use at workplace should embrace all possible sources of information. Classical sources of information on the use of psychoactive substances at the workplace include: statistical data (general information on trends and magnitude of drug and medicine addiction collected by the Polish National Police, the National Bureau for Drug Prevention and emergency medical services), surveys, psychomotor tests and qualitative and quantitative analyses of biological material. Of the new and promising methods, used throughout the world in recent years, chemical-toxicological analysis of surface water and wastewater deserve special mention. An increasing interest in the study of urban waste water can significantly complement the source of knowledge about drug and medicine addiction using obtainable conventional methods. In recent years, a municipal wastewater analysis has become a new and very promising way of collecting updated information on the use of psychoactive substances and medicines. It seems that this kind of study may play an important role in the ongoing monitoring of drug and/or medicines use by selected groups of population (e.g., students, military, firemen, policemen, etc.).

[Estimation of the usage of psychoactive substances in academic campus based on analysis of municipal waste water]. / Oszacowanie stosowania srodków odurzajacych w kampusie akademickim na podstawie wyników analizy chemicznej scieków komunalnych.

Important source of objective information about the nature and the scale of the usage of psychoactive substances becomes test of municipal waste water or surface water. From the analytical chemistry point of view municipal waste water are a complex mixture of substances therefore the authoritative analysis requires careful planning of both the place of sampling and the use of effective methods of research. The aim of this work was the attempt to estimate the scale of the usage of narcotic drugs in the academic campus Kortowo in Olsztyn during the students May holidays "Kortowiady". The positive results of the concentration of 11 -nor-9-carboxy-delta9-tetrahydrocannabinol (THC-COOH) and amphetamines in the samples of effluent shall indicate the need to continue research in this field and improvement methods for the determination of narcotic drugs.

Population Genetic Data of 30 Insertion-Deletion Markers in the Polish Population.

(1) Background: Insertion-deletion (InDel) markers show the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) and are considered alternative markers in forensic genetics. (2) Methods: Allelic frequencies and corresponding forensic efficiency parameters of 30 autosomal polymorphic InDel loci included in the Investigator DIPplex kit (Qiagen) were obtained in a sample of 631 unrelated Polish individuals. Allelic frequency data were compared with those reported for selected populations (3) Results: All the loci conformed with Hardy-Weinberg equilibrium after applying a Bonferroni correction and no pair-wise significant linkage disequilibrium was detected. (4) Conclusions: DIPplex Kit differences were high among populations worldwide. The InDel markers are highly discriminating for human identification purposes in the Polish population.

The Second-to-Fourth Digit (2D:4D) Ratio of Male Combat Athletes is Associated with the Choice of Sport.

The second-to-fourth-digit (2D:4D) ratio has been widely used as a putative marker of prenatal exposure to testosterone in health, behavioral and sport sciences, but it has only been used few times regarding combat athletes. This study involved 200 male elite combat athletes (Olympic wrestling, kickboxing, judo, taekwondo and karate) and 179 males not participating in any sports. The lengths of the index finger (2D) and ring (4D) finger were measured using computer-assisted image analysis (AutoMetric 2.2 software). The 2D:4D ratio of combat athletes was significantly lower than that of the controls. Moreover, a lower 2D:4D ratio was found among wrestlers, judo athletes and kickboxers than in the control group, and a higher 2D:4D ratio was found, but with borderline significance, among karate and taekwondo athletes. Moreover, multivariate analysis adjusted for age showed that judo, Olympic wrestling and kickboxing athletes combined had 2D:4D ratios significantly lower (by 0.035 on average) than those of the rest of the subjects and that karate and taekwondo athletes together had 2D:4D ratios significantly higher (by 0.014 on average) than those of the rest of the subjects. The research results and literature review indicate that knowledge about the functional meaning of the 2D:4D ratio is still too fragmentary and it is too early to use the 2D:4D ratio in the selection of sport talent; however, it may be a useful criteria when screening prospective athletes to be recruited to a team. That is why 2D:4D reference values should be defined for particular sports.

[Accreditation of forensic laboratories]. / Akredytacja laboratoriów sadowych.

According to the framework decision of the European Union Council, genetic laboratories which perform tests for the benefit of the law enforcement agencies and the administration of justice are required to obtain a certificate of accreditation testifying to compliance with the PN EN ISO/IEC 17025:2005 standard. The certificate is the official confirmation of the competence to perform research, an acknowledgement of credibility, impartiality and professional independence. It is also the proof of establishment, implementation and maintenance of an appropriate management system. The article presents the legal basis for accreditation, the procedure of obtaining the certificate of accreditation and selected elements of the management system.

Epidemiology of suicides in Poland in 1990-2018 - changes and new trends.

INTRODUCTION: In Poland, the problem of suicide attempts has not been the subject of a comprehensive analysis. We examined the magnitude of the phenomenon and suicide trends over the past 3 decades, focusing on the number of suicide deaths and attempts, the method and place of suicide, gender, age, day of the week, and state of mind. MATERIAL AND METHODS: We used official nationwide data collected by the Central Statistical Office (CSO) and the National Police Headquarters (NPH) for the years 1990-2018. The final statistical data collected by the CSO was verified on the basis of medically certified deaths. RESULTS: Despite the correlation between the information from the CSO and NPH on the classification of suicides, in the opinion of authors', the published data is underestimated or incorrectly categorized. There were 187,502 suicide attempts in Poland between 1990 and 2018, 75.8% of which resulted in death. In 2018, the suicide rate in Poland was 13.6 per 100,000 people and was higher than in 1990 (9.7). The highest risk for suicides is observed for men aged 45-54 years, at the turn of winter and spring, on Mondays, and in rural areas. The critical period is Mondays at the turn of winter and spring. Hanging is the most commonly used suicide method. CONCLUSIONS: Based on the collected statistical data, it should be stated that suicide attempts have for many years been a significant social problem in Poland, for which no systemic solutions have been introduced.

[Process of exhumation and identification of victims of the 1992-1995 war in the territory of Bosnia and Herzegovina]. / Proces ekshumacji i identyfikacji ofiar wojny na terenie Bosni i Hercegowiny w latach 1992-1995.

Three and half years of war in Bosnia-Herzegovina in 1992-1995 took lives of thousands of people. About 30,000 of them were accounted for and reported as missing. Fighting and ethnic cleansing took place throughout the country. In consequence bodies of killed persons were buried in endless number of clandestine mass graves, dumped into rivers, wells, septic tanks and caves, or simply left unburied in fields, meadows and forests. Therefore, it is essential to obtain information about the potential grave or graves, which allows their proper location. More than 20,000 victims were exhumed to the end of 2008. Unfortunately, majority of remains recovered from secondary graves represents either incomplete skeletons, not associated bones or bone fragments. In this situation, only a large-scale DNA testing, in the future, will answer for question how many people are victims of that war. It is predicted that process of exhumation and identification will be finished until 2015 year.

Sequence analysis of a new short tandem repeat locus D17S2266E located in the human growth hormone gene cluster HumGH@.

D17S2266E is a new, variable genetic marker exhibiting polymorphism of the number of repeats of four- and two-nucleotide motifs. This study, carried out on a group of 250 unrelated persons from various regions of Poland, revealed the presence of 24 different alleles ranging in size from 232 to 290 base pairs. Analysis of the sequenced fragments demonstrated that the alleles consisted of two flanking regions and two variable blocks that were separated by a consensus sequence. There were (AAAG)(5)(AG)(1)(AAAG)(3-4) repeats in the first block, and [(AAAG)(2)(AG)(1)](0-1)[(AAAG)(6)(AG)(1)](0-1)(AAAG)(n) repeats in the second block. On the basis of the allele frequencies in the population, we were able to do biostatistical calculations, which gave the following results: expected heterozygosity 0.8947 +/- 0.0137, power of discrimination 0.9793, polymorphism information content 0.8837, probability of exclusion (PE) 0.7859, PE for motherless cases 0.6473, and an average paternity index of 4.7470. These biostatistical parameters show that the marker D17S2266E can find a wide range of applications in forensic testing.

[Ethnic variation and forensic usefulness of Y-STR loci in inhabitants of northeastern Poland]. / Polimorfizm loci Y-STR wsród ludnosci Polski pólnocno-wschodniej w aspektach zróznicowania etnicznego i przydatnosci w badaniach medyczno-sadowych.

The objective of the investigation was the calculation of biostatistical indices and parameters of medicolegal usefulness and extension of the knowledge on the genetic structure of the population in view of its historical background and ethnic composition. Polymorphism of Y-STR loci was determined in population samples including the total of 718 males of Polish nationality and belonging to the minorities of Byelorussians, Lithuanians, Polish Tatars and the religious minority of the Old Believers. Statistical analysis of genetic polymorphisms indicated their usefulness in characterizing populations and ethnic groups. The variations in haplotype distribution in northeastern Polish populations should be taken into consideration while evaluating probability of genetic profile matching in medicolegal expert opinions.

[Polymorphism of 11 autosomal STRS in a population sample of Belarussian minority residing in the region of Podlasie (Northeastern Poland)--an extension of the STR core set]. / Polimorfizm 11 autosomalnych loci STR w populacji bialoruskiej mniejszosci narodowej zamieszkujacej region Podlasia--rozszerzenie typowego panelu badawczego.

Population genetic data for 11 STRs included in the Humantype Chimera kit were obtained by multiplex PCR and subsequent automated fluorescent detection (ABI 310) from a sample of 200 unrelated individuals of both genders belonging to the Belarussian minority residing in the region of Podlasie (Northeastern Poland). The objective of the investigations was determination of 11 STRs frequency and calculation of parameters of their usefulness in medicolegal examinations. The genotype distributions conformed to HWE for all the analyzed loci. The highly polymorphic systems exhibit a high degree of informativeness and are a potential extension to CODIS loci, particularly in kinship analysis and deficiency cases.

Difficulties in interpretation when assessing prolonged and subacute exposure to the toxic effects of chlorine.

The purpose of this study was a toxicological interpretation of exposure to chlorine with unusual course. Medical, clinical and court records, as well as reviews of the literature, served as the basis for this interpretation. The first case of poisoning concerns a 52-year-old man who for a short time (probably several hours), during the industrial cleaning of facilities with sodium hypochlorite, was exposed to chlorine in a presumed high concentration. The man was obese and suffered from hypertension and moderate atherosclerosis, and therefore could be more susceptible to the toxic effects of chlorine. After exposure no pulmonary edema or symptoms typical for acute respiratory distress syndrome were present. The second case concerns the chronic poisoning of a 56-year-old man who worked for eight years, 8 h a day, 5 days a week, in a room which was next to a chlorination room. In this chamber technical sodium hypochlorite was stored and dosed. In both cases, determining a cause and effect relationship between exposure to toxic and allergic agents in the form of active chlorine, and the onset of symptoms may be difficult. The findings described above in the first and second case are particularly important in cases of compensation claims and may have a completely different etiology than previously described in medical literature.

[A rare case of infant poisoning due to accidental administration of 1,2,3-triketohydrinden hydrate (ninhydrin)]. / Rzadki przypadek zatrucia niemowlecia wskutek blednego podania wodzianu 1, 2, 3-trójketohydrindenu (ninhydryny).

The paper presents a case of medical malpractice during the test for phenylketonuria. The authors analyzed all documents collected in the course of the investigation of infant poisoning due to accidental administration of ninhydrin. The medical assessment was based on an extensive review of the case history, as well as on spectroscopy (FT-IR), chromatography and chemical analysis findings that allowed for confirming the presence of the toxic substance in the evidence material collected during the initial investigation. The obtained results confirmed the presence of ninhydrin in the tea cup and in the teaspoon, which were used to prepare the diagnostic medium. No ninhydrin was found in other investigated materials. The employment of routine research methods, including GC-MS, FT-IR and UV-VIS, allowed for detection and identification of the pure chemical form of ninhydrin, as well as its color complex with amino acids. The detailed case analysis, as well as the variability of extensive evidence material collected during the investigation allowed for determining the identity of persons responsible for accidental administration of the poisoning substance to the infant.

Genetic variation of 15 autosomal STRs in a population sample of Bedouins residing in the area of the Fourth Nile Cataract, Sudan.

ABSTRACT: The purpose of the paper was to report allelic frequencies of 15 autosomal STR markers (AmpFlSTR NGM PCR Amplification Kit) for Bedouin inhabitants in the area of the Fourth Nile Cataract in Sudan, and compute commonly used population and forensic biostatistical parameters. Buccal swabs were collected from 117 unrelated individuals. DNA was extracted using DNA QIAamp® DNA Mini Kit, and quantitated with Quantifiler Human Quantification Kit in a 7500 Real-Time PCR System. Amplification of 15 AmpFlSTR NGM PCR Kit loci was performed in PCR System 9700. Electrophoresis and typing were performed in 3130 Genetic Analyzer. Arlequin v3.5 software and PowerStats v1.2 spreadsheet were used for statistical calculations. The STR frequency distributions showed no deviations from HWE. The combined values of Matching Probability and Power of Exclusion are 1.77 × 10-18 and 0.9999996, respectively. The average observed heterozygosity over 15 loci is 0.8069. Five different allelic microvariants were found. A significant linkage disequilibrium was observed in five pairs of loci. A 15 STR population database has been established for Sudanese Bedouins. The systems studied have been shown to be useful tool for personal identification in this population.

Genetic data on 10 STR loci a population of western Poland.

Allele frequencies for 10 STRs included in the AmpFlSTR SGM Plus kit were determined in a population sample of 668 unrelated individuals living in western Poland. All loci met Hardy-Weinberg expectations. Exact tests disequilibrium analysis revealed two departures from independence out of 45 pairwise comparisons. The combined matching probability (MP) and power of exclusion (PE) for all 15 loci are 2.56 x 10(-13) and 0.99996, respectively.

Genetic variation of STR loci D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA by GenePrint PowerPlex 16 in a Polish population.

Allele frequencies for the fifteen STRs included in the GenePrint PowerPlex kit were determined in 870 unrelated individuals from Polish population. All loci met Hardy-Weinberg expectations. Exact tests disequilibrium analysis revealed no departures from independence out of 105 pair-wise comparisons. The combined MP and PE for all 15 loci are 6.00x10(-17) and 0.999999, respectively.

Mitochondrial DNA in pathogenesis of Alzheimer's and Parkinson's diseases.

A critical role of mitochondrial dysfunction and oxidative damage has been implicated in etiopathology of many neurodegenerative disorders, as well as in normal aging. Alzheimer's and Parkinson's diseases are common devastating late-onset neurodegenerative disorders, associated with mitochondrial DNA variations, which are suggested to affect mitochondrial functions. This paper reviews the current knowledge on the inherited and somatic mtDNA variations in both conditions.

[STR polymorphism of the non-coding human growth hormone gene (HUMGHCSA) and its use in personal identification--a preliminary report]. / Polimorfizm STR niekodujacego regionu genu ludzkiego hormonu wzrostu (HUMGHCSA) i jego wykorzystanie w identyfikacji osobniczej--doniesienie wstepne.

The HUMGHCSA locus, located within the non-coding region of the human growth hormone gene on chromosome 17, exhibiting polymorphism of the number of repeats of two and four nucleotide motifs (CT and CTTT), but also polymorphism caused by nucleotide substitution, is one of the most polymorphic STR markers. The purpose of this study was to report the development of a system of fluorescent analysis for an automatic sequencer, to test its reliability and to develop biostatistical parameters of its usefulness in forensic examinations. The studies, carried out on a group of 200 non-related individuals, showed the presence of 24 different alleles, of 221 to 279 bp in length. Biostatistical calculations demonstrated that the expected heterozygosity was 0,898634 +/- 0,015091, PD - 0,980586, PIC - 0,887709, PE - 0,792767, PE for motherless cases - 0,6556701, and the average paternity index - 4,932625. Such results indicate a High usefulness of the studied HUMGHCSA locus for identification examinations.