forensic phenotyping
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... disease -- Chromosomal abnormalities and structural variants -- Moleculars pathology: connecting phenotypes ... ... microduplications 504 -- Summary 512 -- Further reading 513 -- 16 MOLECULAR PATHOLOGY: -- CONNECTING PHENOTYPES ... ... repeat expansions 532 -- 16.4 Molecular pathology of mitochondrial disorders 535 -- 16.5 Genotype-phenotype ... ... 20.4 Population screening 642 -- 20.5 Pharmacogenetics and personalized medicine 651 -- 20.6 DNA forensics ...
Fifth edition xiii, 770 stran : ilustrace ; 29 cm
BACKGROUND: Genomic methods can provide extraordinary tools to explore the genetic background of wild species and domestic breeds, optimize breeding practices, monitor and limit the spread of recessive diseases, and discourage illegal crossings. In this study we analysed a panel of 170k Single Nucleotide Polymorphisms with a combination of multivariate, Bayesian and outlier gene approaches to examine the genome-wide diversity and inbreeding levels in a recent wolf x dog cross-breed, the Czechoslovakian Wolfdog, which is becoming increasingly popular across Europe. RESULTS: Pairwise FST values, multivariate and assignment procedures indicated that the Czechoslovakian Wolfdog was significantly differentiated from all the other analysed breeds and also well-distinguished from both parental populations (Carpathian wolves and German Shepherds). Coherently with the low number of founders involved in the breed selection, the individual inbreeding levels calculated from homozygosity regions were relatively high and comparable with those derived from the pedigree data. In contrast, the coefficient of relatedness between individuals estimated from the pedigrees often underestimated the identity-by-descent scores determined using genetic profiles. The timing of the admixture and the effective population size trends estimated from the LD patterns reflected the documented history of the breed. Ancestry reconstruction methods identified more than 300 genes with excess of wolf ancestry compared to random expectations, mainly related to key morphological features, and more than 2000 genes with excess of dog ancestry, playing important roles in lipid metabolism, in the regulation of circadian rhythms, in learning and memory processes, and in sociability, such as the COMT gene, which has been described as a candidate gene for the latter trait in dogs. CONCLUSIONS: In this study we successfully applied genome-wide procedures to reconstruct the history of the Czechoslovakian Wolfdog, assess individual wolf ancestry proportions and, thanks to the availability of a well-annotated reference genome, identify possible candidate genes for wolf-like and dog-like phenotypic traits typical of this breed, including commonly inherited disorders. Moreover, through the identification of ancestry-informative markers, these genomic approaches could provide tools for forensic applications to unmask illegal crossings with wolves and uncontrolled trades of recent and undeclared wolfdog hybrids.
- MeSH
- analýza hlavních komponent MeSH
- Bayesova věta MeSH
- cirkadiánní rytmus genetika MeSH
- DNA izolace a purifikace metabolismus MeSH
- genom * MeSH
- genová ontologie MeSH
- hybridizace genetická MeSH
- jednonukleotidový polymorfismus MeSH
- katechol-O-methyltransferasa genetika MeSH
- metabolismus lipidů genetika MeSH
- populační genetika MeSH
- psi genetika MeSH
- vazebná nerovnováha MeSH
- vlci genetika MeSH
- zvířata MeSH
- Check Tag
- psi genetika MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Československo MeSH
... Kutscher -- Section 9 -- Legal Topics in Sleep Medicine 653 -- 65 Sleep Forensics: Criminal Culpability ... ... 1030 -- 1041 -- 1049 -- 1059 -- 1076 -- 1088 -- Contents xliii -- 113 Obstructive Sleep Apnea: Phenotypes ...
Sixth edition xlv, 1730 stran : ilustrace ; 28 cm
- Konspekt
- Fyziologie člověka a srovnávací fyziologie
- NLK Obory
- fyziologie
- NLK Publikační typ
- kolektivní monografie
... Pavlova -- SECTION 12 -- Miscellaneous sleep-related topics -- 52 Violent parasomnias and sleep forensics ...
Oxford textbooks in clinical neurology
First edition xxii, 536 stran : ilustrace ; 28 cm
INTRODUCTION: The β1 adrenergic receptor blocker metoprolol is often prescribed together with the antiarrhythmic drug propafenone. Both are metabolized by cytochrome P450 2D6 and propafenone is also an inhibitor of this enzyme. We present a pediatric case showing metoprolol and propafenone intoxication in combination. CASE: A 14-year-old girl was admitted to a local emergency department after ingestion of metoprolol (probably 1g) and propafenone (probably 1.5-3g) in a suicide attempt. She developed cardiogenic shock with cardiac arrest and was fully resuscitated. Veno-arterial femorofemoral extracorporeal membrane oxygenation was started immediately. High serum levels of both drugs were detected approximately 10h after ingestion (2630ng/mL metoprolol and 2500ng/mL propafenone). Other serial samples for the monitoring of the levels of metoprolol and its metabolite alfa-hydroxymetoprolol were obtained between days 2 and 4 after admission. The metoprolol/alfa-hydroxymetoprolol ratio on the 2nd day was 36.1, indicative of a poor metabolizer phenotype. The elimination half-life of metoprolol was prolonged to 13.2h and the clearance decreased by about 70%. The patient condition gradually worsened, brain edema and intracerebral hemorrhage occurred, and on the 6th day, the patient died. CONCLUSION: We document a pediatric case report of death due to a mixed drug overdose of metoprolol and propafenone, along with data regarding serum metoprolol, alfa-hydroxymetoprolol, and propafenone levels.
- MeSH
- antagonisté beta-1-adrenergních receptorů krev otrava MeSH
- antiarytmika krev otrava MeSH
- cerebrální krvácení chemicky indukované MeSH
- edém mozku chemicky indukované MeSH
- kardiogenní šok chemicky indukované MeSH
- lékové interakce MeSH
- lidé MeSH
- metoprolol krev otrava MeSH
- mladiství MeSH
- předávkování léky MeSH
- propafenon krev otrava MeSH
- sebevražda * MeSH
- srdeční zástava chemicky indukované MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human facial variation. To address this, we carried out a large genomewide association study and two independent replication studies of Bantu African children and adolescents from Mwanza, Tanzania, a region that is both genetically and environmentally relatively homogeneous. We tested for genetic association of facial shape and size phenotypes derived from 3D imaging and automated landmarking of standard facial morphometric points. SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, we demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq, supporting their involvement in facial morphogenesis. Ten additional loci demonstrated suggestive association with various measures of facial shape. Our findings, which differ from those in previous studies of European-derived whites, augment understanding of the genetic basis of normal facial development, and provide insights relevant to both human disease and forensics.
- MeSH
- cAMP-fosfodiesterasy genetika MeSH
- celogenomová asociační studie * MeSH
- černoši MeSH
- fenotyp MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- maxilofaciální vývoj genetika MeSH
- mladiství MeSH
- morfogeneze genetika MeSH
- myši MeSH
- obličej anatomie a histologie MeSH
- transportní proteiny genetika MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Tanzanie MeSH
... Sequences 472 -- Genes Can Be Cloned in vitro Using PCR 473 -- PCR Is Also Used for Diagnostic and Forensic ... ... Products Can Be Ordered in Pathways by Epistasis -- Analysis 490 -- Mutations Responsible for a Phenotype ...
Sixth edition xxxiv, 1430 stran v různém stránkování : ilustrace (převážně barevné) ; 29 cm
- Konspekt
- Biochemie. Molekulární biologie. Biofyzika
- NLK Obory
- molekulární biologie, molekulární medicína
- NLK Publikační typ
- učebnice vysokých škol
... Acknowledgements xxiii -- Preface xxvi -- Legislation xxxi -- List of Abbreviations xxxiii -- 1 Introduction -- Forensic ... ... Isle of Man 105 -- Channel Islands 105 -- Republic of Ireland 106 -- Concluding comments 110 -- Forensic ... ... health (FMH) services and interventions under criminal and civil law: -- Germany and the USA 11 б -- Forensic ... ... - Cycles in fear and stigmatization: A brief history of secure mental health services Specialist forensic ... ... psychiatry service provision in Scotland -- Health service based forensic psychiatry service provision ...
2nd edition xliv, 991 s. : il. ; 28 cm
- MeSH
- právní vědy MeSH
- psychiatrie zákonodárství a právo MeSH
- soudní psychiatrie MeSH
- Publikační typ
- příručky MeSH
- Konspekt
- Psychiatrie
- NLK Obory
- psychiatrie
- právo, zákonodárství
- NLK Publikační typ
- kolektivní monografie
- učebnice vysokých škol
The IrisPlex system is a DNA-based test system for the prediction of human eye colour from biological samples and consists of a single forensically validated multiplex genotyping assay together with a statistical prediction model that is based on genotypes and phenotypes from thousands of individuals. IrisPlex predicts blue and brown human eye colour with, on average, >94% precision accuracy using six of the currently most eye colour informative single nucleotide polymorphisms (HERC2 rs12913832, OCA2 rs1800407, SLC24A4 rs12896399, SLC45A2 (MATP) rs16891982, TYR rs1393350, and IRF4 rs12203592) according to a previous study, while the accuracy in predicting non-blue and non-brown eye colours is considerably lower. In an effort to vigorously assess the IrisPlex system at the international level, testing was performed by 21 laboratories in the context of a collaborative exercise divided into three tasks and organised by the European DNA Profiling (EDNAP) Group of the International Society of Forensic Genetics (ISFG). Task 1 involved the assessment of 10 blood and saliva samples provided on FTA cards by the organising laboratory together with eye colour phenotypes; 99.4% of the genotypes were correctly reported and 99% of the eye colour phenotypes were correctly predicted. Task 2 involved the assessment of 5 DNA samples extracted by the host laboratory from simulated casework samples, artificially degraded, and provided to the participants in varying DNA concentrations. For this task, 98.7% of the genotypes were correctly determined and 96.2% of eye colour phenotypes were correctly inferred. For Tasks 1 and 2 together, 99.2% (1875) of the 1890 genotypes were correctly generated and of the 15 (0.8%) incorrect genotype calls, only 2 (0.1%) resulted in incorrect eye colour phenotypes. The voluntary Task 3 involved participants choosing their own test subjects for IrisPlex genotyping and eye colour phenotype inference, while eye photographs were provided to the organising laboratory and judged; 96% of the eye colour phenotypes were inferred correctly across 100 samples and 19 laboratories. The high success rates in genotyping and eye colour phenotyping clearly demonstrate the reproducibility and the robustness of the IrisPlex assay as well as the accuracy of the IrisPlex model to predict blue and brown eye colour from DNA. Additionally, this study demonstrates the ease with which the IrisPlex system is implementable and applicable across forensic laboratories around the world with varying pre-existing experiences.
In 168 patients with rheumatoid arthritis we examined the condition of the neuropsychological status by using the methods established in the Institute of the General and Forensic Psychiatry named by V. Serbski. About 63.1% of patients with rheumatoid arthritis had vegetative disorders, 60.7% of patients had asthenic disorders, 30.4% of patients - affective disorders, 18.5% of patients -hypochondriac disorders, 9.5% of patients - hysteric disorders and 4.8% of patients had persistent disorders. The frequency of neurological disorders was depending on the age of the patients, the duration of the disease, the degree of the activity of the process, and the functional insufficiency of joints. The degree neurological disorders was related with the disorders of immunity, the indexes of the inflammation, and the changes of the spectrum of hormones in the blood.
- MeSH
- adrenokortikotropní hormon krev MeSH
- časové faktory MeSH
- deprese MeSH
- dospělí MeSH
- histriónská porucha osobnosti MeSH
- hydrokortison krev MeSH
- hypochondrie MeSH
- klinické laboratorní techniky MeSH
- lidé středního věku MeSH
- lidé MeSH
- měření bolesti MeSH
- mladiství MeSH
- mladý dospělý MeSH
- neurotické poruchy * MeSH
- poruchy nálady MeSH
- poruchy spánku a bdění MeSH
- revmatoidní artritida * krev psychologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- stupeň závažnosti nemoci MeSH
- vápník krev MeSH
- věkové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
