One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, six exercises have been organized. At the present edition (GHEP-MIX06), with 25 participant laboratories, the exercise main aim was to assess mixture profiles results by issuing a report, from the proposal of a complex mock case. One of the conclusions obtained from this exercise is the increasing tendency of participating laboratories to validate DNA mixture profiles analysis following international recommendations. However, the results have shown some differences among them regarding the edition and also the interpretation of mixture profiles. Besides, although the last revision of ISO/IEC 17025:2017 gives indications of how results should be reported, not all laboratories strictly follow their recommendations. Regarding the statistical aspect, all those laboratories that have performed statistical evaluation of the data have employed the likelihood ratio (LR) as a parameter to evaluate the statistical compatibility. However, LR values obtained show a wide range of variation. This fact could not be attributed to the software employed, since the vast majority of laboratories that performed LR calculation employed the same software (LRmixStudio). Thus, the final allelic composition of the edited mixture profile and the parameters employed in the software could explain this data dispersion. This highlights the need, for each laboratory, to define through internal validations its criteria for editing and interpreting mixtures, and to continuous train in software handling.

• MeSH
• DNA fingerprinting normy   MeSH
• laboratoře statistika a číselné údaje   MeSH
• lidé MeSH
• mikrosatelitní repetice * MeSH
• pravděpodobnostní funkce MeSH
• software MeSH
• soudní genetika normy   MeSH
• společnosti vědecké * MeSH
• výzkumná zpráva normy   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

The ReAct (Recovery, Activity) project is an ENFSI (European Network of Forensic Science Institutes) supported initiative comprising a large consortium of laboratories. Here, the results from more than 23 laboratories are presented. The primary purpose was to design experiments simulating typical casework circumstances; collect data and to implement Bayesian networks to assess the value (i.e., likelihood ratio) of DNA results given activity level propositions. Two different experimental designs were used to simulate a robbery, where a screwdriver was used to force a door or window. Propositions and case information were chosen following laboratory feedback listing typical casework circumstances (included in the paper). In a direct transfer experiment, the defendant owned and used the screwdriver, but he did not force the door/window in question. An unknown person used the defendant's stolen screwdriver. In an indirect transfer experiment, the defendant neither owned, saw, nor used the screwdriver, nor did they force the door or window. For the second experiment, given the defence view, the defendant never held the screwdriver. We envisaged the situation where an object manipulated by the defendant (or the defendant himself/herself) would be touched by the unknown offender who would then force the window. It was found for the direct transfer experiment that unless a single contributor profile aligning with the known person's of interest profile was retrieved, the results did not allow to discriminate between propositions. On the other hand, for the indirect transfer experiment, both single and major contributor profiles that aligned with the person of interest (POI) supported the proposition that the person used the tool rather than an unknown person who had touched an object, when indeed the former was true. There was considerable variation in median recoveries of DNA between laboratories (between 200pg-5ng) for a given experiment if quantities are taken into account. These differences affect the likelihood ratios given activity level propositions. More than 2700 samples were analysed in the course of this study. Two different Bayesian Networks are made available via an open source application written in Shiny R: Shiny_React(). For comparison, all datasets were analysed using a qualitative method categorised into absent, single, major or other given contributors. The importance of standardising methods is emphasised, alongside the necessity of developing new approaches to assign the probability of laboratory-dependent DNA recovery. Freely accessible open databases play a crucial role in supporting these efforts.

• MeSH
• Bayesova věta * MeSH
• DNA fingerprinting * MeSH
• DNA * genetika   MeSH
• laboratoře * MeSH
• lidé MeSH
• mikrosatelitní repetice MeSH
• pravděpodobnostní funkce MeSH
• soudní genetika metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Mavakamten je selektivní, alosterický a reverzibilní inhibitor srdečního myozinu. Tímto způsobem moduluje počet myozinových hlavic, které mohou vstupovat do stavu vzniku kontrakce, a tím snižuje pravděpodobnost tvorby systolických a reziduálních diastolických příčných můstků při kontrakci. Látka je aktuálně schválená a indikovaná k léčbě symptomatické hypertrofické obstrukční kardiomyopatie (oHCM) (New York Heart Association, NYHA, třída II–III) u dospělých pacientů. Aktuálně probíhá velká klinická studie, která se pokusí doplnit dlouhodobá data o bezpečnosti a účinnosti mavakamtenu ve zmíněné indikaci.

Mavakamten is a selective, allosteric and reversible inhibitor of cardiac myosin. In this way, it modulates the number of myosin heads that enter the state of onset of contraction, thereby reduce the likelihood of the formation of systolic and residual diastolic cross bridges during contraction. The molecule is currently approved and indicated for the treatment of symptomatic hypertrophic obstructive cardiomyopathy (oHCM) (New York Heart Association, NYHA, class II-III) in adult patients. A large clinical study is currently underway, which will attempt to supplement the long-term data on the safety and efficacy of mavacamten in the mentioned indication.

• Klíčová slova
• mavakamten, inhibitory srdečního myozinu,
• MeSH
• analýza dat MeSH
• hodnocení léčiv MeSH
• hypertrofická kardiomyopatie * diagnóza   farmakoterapie   MeSH
• klinická studie jako téma MeSH
• srdeční myosiny * antagonisté a inhibitory   farmakokinetika   farmakologie   terapeutické užití   MeSH
• Publikační typ
• přehledy MeSH

To define the soil properties for a given area or country including the level of pollution, soil survey and inventory programs are essential tools. Soil data transformations enable the expression of the original data on a new scale, more suitable for data analysis. In the computer-aided interactive analysis of large data files of soil characteristics containing outliers, the diagnostic plots of the exploratory data analysis (EDA) often find that the sample distribution is systematically skewed or reject sample homogeneity. Under such circumstances the original data should be transformed. The Box-Cox transformation improves sample symmetry and stabilizes spread. The logarithmic plot of a profile likelihood function enables the optimum transformation parameter to be found. Here, a proposed procedure for data transformation in univariate data analysis is illustrated on a determination of cadmium content in the plough zone of agricultural soils. A typical soil pollution survey concerns the determination of the elements Be (16 544 values available), Cd (40 317 values), Co (22 176 values), Cr (40 318 values), Hg (32 344 values), Ni (34 989 values), Pb (40 344 values), V (20 373 values) and Zn (36 123 values) in large samples.

• MeSH
• financování vládou MeSH
• interpretace statistických dat MeSH
• kadmium analýza   MeSH
• kovy analýza   MeSH
• látky znečišťující půdu analýza   MeSH
• monitorování životního prostředí metody   MeSH
• pravděpodobnostní funkce MeSH
• zemědělství MeSH
• znečištění životního prostředí analýza   MeSH

We explored the transition of 13 X-linked markers across two separate portions of the house mouse hybrid zone, asking whether such a comparison can distinguish the effects of selection from random factors. A heuristic search in the likelihood landscape revealed more complex likelihood profiles for data sampled in two-dimensional (2D) space relative to data sampled along a linear transect. Randomized resampling of localities analyzed for individual loci showed that deletion of sites away from the zone center can decrease cline width estimates whereas deletion of sites close to the center can significantly increase the width estimates. Deleting localities for all loci resulted in wider clines if the number of samples from the center was limited. The results suggest that, given the great variation in width estimates resulting from inclusion/exclusion of sampling sites, the geographic sampling design is important in hybrid zone studies and that our inferences should take into account measures of uncertainty such as support intervals. The comparison of the two transects indicates cline widths are narrower for loci in the central part of the X chromosome, suggesting selection is stronger in this region and genetic incompatibilities may have at least partly common architecture in the house mouse hybrid zone.

• MeSH
• druhová specificita MeSH
• genetické markery genetika   MeSH
• genotyp MeSH
• hybridizace genetická MeSH
• myši genetika   MeSH
• pravděpodobnostní funkce MeSH
• rozmnožování genetika   MeSH
• selekce (genetika) MeSH
• stochastické procesy MeSH
• vznik druhů (genetika) MeSH
• zeměpis MeSH
• zvířata MeSH
• Check Tag
• myši genetika   MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH
• Německo MeSH

A rod-shaped and Gram-stain-negative bacterial strain 9AT, was isolated from an air sample collected at King George Island, maritime Antarctica. Phylogenetic analysis based on 16S rRNA gene sequence reveals that strain 9AT belongs to the genus Hymenobacter and shows the highest similarity to Hymenobacter coccineus CCM 8649T (96.8 %). The DNA G+C content based on the draft genome sequence is 64.9 mol%. Strain 9AT is strictly aerobic, psychrophilic, catalase-positive, oxidase-positive and non-motile. Growth is observed at 0-20 °C (optimum 10 °C), pH 6.0-8.0 (optimum pH 7.0), and in the absence of NaCl. The predominant menaquinone of strain 9AT is MK-7 and the major fatty acids comprise Summed Feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c; 25.2 %), iso-C15 : 0 (23.2 %), C16 : 1 ω5c (11.6 %), Summed Feature 4 (anteiso-C17 : 1 B/iso-C17 : 1 I) (9.6 %) and anteiso-C15 : 0 (9.6 %). The polar lipid profile consists of the major lipid phosphatidylethanolamine and moderate to minor amounts of phosphatidylserine, unidentified aminolipids, aminophospholipids, aminophosphoglycolipids, polar lipids lacking a functional group and an unidentified phospholipid and a glycolipid. In the polyamine pattern sym-homospermidine is predominant. On the basis of the results obtained, strain 9AT is proposed as a novel species of the genus Hymenobacter, for which the name Hymenobacter caeli sp. nov. is suggested. The type strain is 9AT (=CCM 8971T=LMG 32109T=DSM 111653T).

• MeSH
• Bacteroidetes klasifikace   genetika   izolace a purifikace   MeSH
• DNA bakterií genetika   MeSH
• fylogeneze MeSH
• genom bakteriální MeSH
• mikrobiologie vzduchu * MeSH
• ostrovy * MeSH
• pravděpodobnostní funkce MeSH
• RNA ribozomální 16S genetika   MeSH
• zastoupení bazí MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Antarktida MeSH
• ostrovy * MeSH

Kombinace nomegestrol acetátu s estradiolem (Zoely) je nová kombinovaná perorální antikoncepce, která má lepší bezpečnostní profil při zachované kontraceptivní účinnosti. Jako progestinová složka je použit nomegestrol acetát (NOMAC), který má silné antigonadotropní a mírné antiandrogenní účinky a zcela přitom postrádá estrogenní, androgenní, glukokortikoidní nebo mineralokortikoidní aktivitu. Účinnost a bezpečnost kombinace nomegestrol acetátu a estradiolu (NOMAC/E2) byla ověřována oproti kombinaci drospirenon/ethinylestradiol (DRSP/EE) ve dvou srovnávacích klinických studiích III. fáze s podobným designem v délce trvání jeden rok. Ve studii SAMBA byla prokázána přinejmenším srovnatelná antikoncepční účinnost (Pearlův index 0,31) s některými výhodami týkajícími se kontroly cyklu (kratší a slabší krvácení ze spádu).

x

• MeSH
• dospělí MeSH
• estradiol * aplikace a dávkování   farmakologie   MeSH
• hodnocení léčiv MeSH
• klinické protokoly MeSH
• kombinovaná farmakoterapie MeSH
• kontraceptiva orální hormonální MeSH
• kontraceptiva orální kombinovaná * aplikace a dávkování   farmakologie   metabolismus   MeSH
• lidé MeSH
• pravděpodobnostní funkce MeSH
• progestiny * agonisté   aplikace a dávkování   farmakologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH

Internet addiction is a serious problem among young adults that requires increased attention, especially at a time of distance learning during the coronavirus disease 2019 (COVID-19) pandemic. The aim of the study was to assess the relationships between internet addiction and selected socio-demographic, study-related, and psychological characteristics of college students. Internet addiction was measured using the Internet Addiction Test both overall and in its individual subscales (Salience, Excessive Use, Neglect Work, Anticipation, Lack of Control, and Neglect Social Life). The selected characteristics represented (1) socio-demographic profile (gender, age, residence, family), (2) academic profile (housing during the semester, form of study), and (3) psychological profile (depressive symptoms-the Patient Health Questionnaire, stress-the Perceived Stress Scale, anxiety symptoms-the Generalized Anxiety Disorder). Data collection took place during the first wave of the COVID-19 pandemic in 2020 at Czech and Slovak colleges, with 1,422 students from the Czech Republic and 1,677 students from Slovakia participating in the research. The analytical processes were carried out through descriptive analysis, non-parametric difference analysis, and multiple negative binomial regression. Mild internet addiction was found in 387 (27.2%) Czech and 452 (27.0%) Slovak students. Moderate internet addiction was identified in 49 (3.4%) students from the Czech Republic and in 100 (6.0%) students from Slovakia. Two (0.1%) Czech and three (0.2%) Slovak students reported severe internet addiction. Increased likelihood of internet addiction overall, as well as in most individual subscales, was found particularly among male students and students who lived away from home during the semester. Depressive symptoms and stress could also be considered significant predictors in both countries. These results are important for the development of effective strategies and prevention programs, as Internet addiction may be a serious problem in the future, given the current times. When assessing internet addiction among college students, it would also be appropriate to evaluate the individual internet addiction subscales and their specifics.

• MeSH
• COVID-19 * epidemiologie   MeSH
• demografie MeSH
• lidé MeSH
• mladý dospělý MeSH
• návykové chování * epidemiologie   psychologie   MeSH
• netholismus epidemiologie   MeSH
• pandemie MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• studenti psychologie   MeSH
• Check Tag
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH

The timely and exact diagnosis of prosthetic joint infection (PJI) is crucial for surgical decision-making. Intraoperatively, delivery of the result within an hour is required. Alpha-defensin lateral immunoassay of joint fluid (JF) is precise for the intraoperative exclusion of PJI; however, for patients with a limited amount of JF and/or in cases where the JF is bloody, this test is unhelpful. Important information is hidden in periprosthetic tissues that may much better reflect the current status of implant pathology. We therefore investigated the utility of the gene expression patterns of 12 candidate genes (TLR1, -2, -4, -6, and 10, DEFA1, LTF, IL1B, BPI, CRP, IFNG, and DEFB4A) previously associated with infection for detection of PJI in periprosthetic tissues of patients with total joint arthroplasty (TJA) (n = 76) reoperated for PJI (n = 38) or aseptic failure (n = 38), using the ultrafast quantitative reverse transcription-PCR (RT-PCR) Xxpress system (BJS Biotechnologies Ltd.). Advanced data-mining algorithms were applied for data analysis. For PJI, we detected elevated mRNA expression levels of DEFA1 (P < 0.0001), IL1B (P < 0.0001), LTF (P < 0.0001), TLR1 (P = 0.02), and BPI (P = 0.01) in comparison to those in tissues from aseptic cases. A feature selection algorithm revealed that the DEFA1-IL1B-LTF pattern was the most appropriate for detection/exclusion of PJI, achieving 94.5% sensitivity and 95.7% specificity, with likelihood ratios (LRs) for positive and negative results of 16.3 and 0.06, respectively. Taken together, the results show that DEFA1-IL1B-LTF gene expression detection by use of ultrafast qRT-PCR linked to an electronic calculator allows detection of patients with a high probability of PJI within 45 min after sampling. Further testing on a larger cohort of patients is needed.

• MeSH
• alfa-defensiny analýza   genetika   MeSH
• biologické markery analýza   MeSH
• dospělí MeSH
• infekce spojené s protézou diagnóza   mikrobiologie   MeSH
• interleukin-1beta analýza   genetika   MeSH
• karboxylesterhydrolasy analýza   MeSH
• laktoferrin analýza   genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• náhrada kyčelního kloubu škodlivé účinky   MeSH
• polymerázová řetězová reakce MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• senzitivita a specificita MeSH
• stanovení celkové genové exprese MeSH
• synoviální tekutina chemie   MeSH
• totální endoprotéza kolene škodlivé účinky   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Ancient origins, profound ecological divergence, and extensive hybridization make the fire-bellied toads Bombina bombina and B. variegata (Anura: Bombinatoridae) an intriguing test case of ecological speciation. Previous modeling has proposed that the narrow Bombina hybrid zones represent strong barriers to neutral introgression. We test this prediction by inferring the rate of gene exchange between pure populations on either side of the intensively studied Kraków transect. We developed a method to extract high confidence sets of orthologous genes from de novo transcriptome assemblies, fitted a range of divergence models to these data and assessed their relative support with analytic likelihood calculations. There was clear evidence for postdivergence gene flow, but, as expected, no perceptible signal of recent introgression via the nearby hybrid zone. The analysis of two additional Bombina taxa (B. v. scabra and B. orientalis) validated our parameter estimates against a larger set of prior expectations. Despite substantial cumulative introgression over millions of years, adaptive divergence of the hybridizing taxa is essentially unaffected by their lack of reproductive isolation. Extended distribution ranges also buffer them against small-scale environmental perturbations that have been shown to reverse the speciation process in other, more recent ecotypes.

• MeSH
• fylogeneze MeSH
• hybridizace genetická * MeSH
• rozšíření zvířat MeSH
• tok genů * MeSH
• transkriptom MeSH
• žáby genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH