|
|
Juvenile facial morphology from a forensic anthropological perspective: time-series mathematical modeling of 3D facial models
Koudelová, Jana ; Velemínská, Jana (advisor) ; Macek, Milan (referee) ; Macholán, Miloš (referee)
Dealing with increasing number of criminal cases registered on photographs or video recordings, cases of missing persons and long-term wanted offenders, assessment of criminal responsibility or, on the other hand, the necessity of legal protection of minors, requires more precise in facial identification techniques. Forensic facial identification comprises especially of facial age estimation, facial age progression of long-term missing persons or facial reconstruction. All these methods require knowledge of facial development during growth, adolescence and senescence, including variability and sexual dimorphism. The knowledge about facial morphology has been useful also in different biomedical disciplines, as well as in the field of psychosocial sciences or in the study of morphological divergences among human populations. The presented thesis summarizes the results of research on the facial growth and development of juvenile individuals and on the analysis of the influence of senescence changes on facial morphology during aging. The first part is concerned with ontogenetic facial development during childhood and adolescence (7 to 17 years), with regard to puberty, based on longitudinal assessment. The main aims of the study were to describe the morphological variability of the face, analyse the...
|
|
|
Molecular and epidemiological characteristics of Burkholderia cenocepacia strain dominant in cystic fibrosis patients in the Czech Republic
Vilimovská Dědečková, Klára ; Dřevínek, Pavel (advisor) ; Macek, Milan (referee) ; Šmajs, David (referee)
Summary: Bacteria from BurkJwlderia cepacia complex represent the most serious pathogens for patients witb cystic fibrosis. l nc:ir scverity IS caused by their antibiotic resistance and ability to Sllrcad among patients wilh cystic fibrosis. Many cyslic fibrosis cenlrcs around IlIe world, also tbe biggest Czech Cystic Fibrosis Centre in University Hospital in Motol, faeed outbreak. In Ihe 1990's tlle epidernie strain HurMwlderia cenocepacia S1'32 spread in a population of cystic fibrosis patienlS. One of the goals of the tunent thesis was to study epidemiological situation of Blďkholderia cepada oornplex in the popolation of eystie fibrosis pmients allending Cysfie Fibrosis Centre in University Hospilal MOlol almost seventeen years after first cases of infected palients wilh Bec inrection. Otber goals were: to evaloate 3 usefulness of molccular genelie diagnosties of Burkholderia cepacia complex tetl years afier ils implementation in routine diagnosties, to improve surveillal1ee syslem not only by implementalion or simple and specifie tesl for detection of epidemie stmin, bul 3150 by implementation of genolyping melllods thal are able to detennine strain in olher cases of infeetion. The [asI goal was to characterize Ibe epidemie slrain frolll virolence point ofview. Dased oRthe thesis we: confirmed...
|
|
|
The serotonin transporter gene - polymorphism incidence study.
Bílá, Nikola ; Macek, Milan (advisor) ; Goetz, Petr (referee)
Serotonin (5-hydroxytryptamine; 5-HT) is a neurotransmitter in the central and peripheral nervous systems. Serotonin transporter 5-HTT plays an important role in serotogenic transmisssion and the serotonin transporter gene is under investigation in connection with multiple psychiatric disorders. Three polymorphisms, an insertion/deletion and SNP in the promoter region and a variable nucleotide tandem repeat (VNTR) in intron 2, influence expression of the 5-HTT gene. We examined these polymorphisms at the serotonin transporter protein locus (SLC6A4) in three specific and representative cohorts drawn from the Czech population. These cohorts were stratified according to their age: a) randomly selected elderly individuals (over 75 years of age), b) young adults (age ranging between 19- 45 years) and c) newborns, all with balanced gender representation. The two regions were amplified and resolved on a 2% agarose gel and/or analyzed using the capillary electrophoresis in order to discriminate lenght polymorphisms. SNP in intron 2 was examined by RFLP after using MspI restriction. This analysis revealed that elderly individuals were statistically more likely than controls to carry two copies of the L allele of the lenth polymorphism. This may be due to the protective character of L allele, which is associated with...
|
|
|
Optimization of newborn screening for cystic fibrosis in the Czech Republic
Krulišová, Veronika ; Macek, Milan (advisor) ; Vrtěl, Radek (referee) ; Hřebíček, Martin (referee)
Newborn screening for cystic fibrosis allows diagnosing patients with cystic fibrosis during asymptomatic stage of their disease or when the symptoms had not fully developed. Due to early diagnosis, patients with cystic fibrosis have the possibility to be treated prior to the occurrence of irreversible changes in the relevant organs, which leads to significantly improved quality of life and patient survival. Commented version of the doctoral thesis presents issues concerning the selection of a suitable newborn screening programme for cystic fibrosis in neonates born in the Czech Republic and establishes requirements for particular analytical and molecular genetics tiers in the tested screening schemes. The aim of this thesis is to nominate newborn screening protocol for cystic fibrosis that leads to optimal parameters in terms of its high sensitivity and specificity, including acceptable costs in the conditions of the Czech Republic health care system. Powered by TCPDF (www.tcpdf.org)
|
|
|
Molecular genetic diagnostics of cystic fibrosis, hyperhomocysteinemia-related disorders and male infertility: validation and application of high resolution melting
Norambuena Baraquet, Patricia Alejandra Del Pilar ; Macek, Milan (advisor) ; Jirsa, Milan (referee) ; Vrtěl, Radek (referee)
Diagnostic test results are crucial for treatment management and family planning of an individual. Considering that around 80% of medical decisions are based on diagnostic tests and that genotyping is usually concluded only once in a lifetime, it is of a great importance to assure highly accurate test results and provided under high quality standards. Cystic fibrosis (CF) is one of the most common and life-threatening autosomal recessive genetic disease affecting mainly Caucasian populations. CF is caused by mutations in the CFTR gene and until this date, more than 1900 mutations have been detected, while only few of them have frequencies higher than 1% worldwide. Thus, to confirm the diagnosis of cystic fibrosis in patients where only one disease-causing mutation has been found, it is necessary to apply a sensitive test to search for uncommon CFTR gene mutations/variants. In this work, we have successfully used HRM for gene scanning of certain exons of the CFTR gene. We have confirmed the numerous advantages of the HRM method for gene scanning and also detect some limitations that must be considered through an implementation process in a DNA diagnostic laboratory. Hyperhomocysteinemia has been proposed as a risk factor for several diseases such as recurrent pregnancy loss and inherited thrombophilia and...
|
|
|
The prevalence of chosen polymorphisms of luteinizing hormone receptor gene in Czech population and patients with ovarian hyperstimulation syndrome
Chrudimská, Jana ; Macek, Milan (advisor) ; Schierová, Michaela (referee)
Ovarian hyperstimulation syndrome (OHSS) is an iatrogenic potentially life-threatening complication of assisted reproduction techniques (ART). It is caused by an increased sensitivity of ovaries to gonadotropins administered during the controlled ovarian hyperstimulation (COH). Thus, the degree of ovarian response can be gently tuned by genetic polymorphisms of gonadotropins and their receptors. The aim of this study is to ascertain the prevalence of polymorphisms Asn291Ser (rs1470652), Ser312Asn (rs2293275) and insLQ (insertion of leucine and glutamine, rs58356637) in the luteinizing hormone chorionic gonadotropin receptor (LHCGR) gene in 102 Czech fertile men, 149 fertile women and 58 patients with serious grade of OHSS. Detection of the Asn291Ser and Ser312Asn polymorphisms was performed using TaqMan SNP Genotyping Assays. The insLQ variation was detected by the capillary electrophoresis with fluorescence-labeled primers. This study ascertained the prevalence of studied variants in Czech fertile population. Obtained results are in concordance with the majority of data from other European populations. There is no difference in prevalence between control-men and control-women. No relation to the development of OHSS was disclosed. The number of analyzed samples is too small for haplotype analysis. These...
|
|
|
The use of PAPP-A/proMBP complex in early diagnosis and prevention of coronary artery disease and in the improvement of therapeutic and preventive care of patients and their families in risk.
Hájek, Petr ; Macek, Milan (advisor) ; Kalousová, Marta (referee) ; Poledne, Rudolf (referee)
Majority of medical decisions are based on results of diagnostic tests that help to differentiate normal from abnormal. The choice of appropriate test and its intepretation are neccessary steps for correct diagnosis and treatment strategy determination. Rapid prove of acute coronary syndrome (ACS) plays a key role in choice of optimal treatment strategy, because timing of intervention directly influences prognosis of the patient. Pregnancy-associated plasma protein-A (PAPP- A) has been studied as a promising marker of ACS. For PAPP-A evaluation in patients with coronary atherosclerosis, we have chosen commercially available system Kryptor that had been verified in prenatal screening of pregnancies in risk. PAPP-A belongs among metalloproteinases. It is important marker of physiological development of placenta and fetus. The only proven physiological role of PAPP- A is the enabling of bioavailability of insulin-like growth factor (IGF). IGF as a growth factor, plays significant role in atherosclerosis development, but also it might contribute to healing processes connected with tissue injury. Nevertheless, PAPP-A role in plaque destabilization has not been proven yet, although it was found in other metaloproteinases. In our pilot study, we confirmed the use of Kryptor system also for patients with coronary...
|
|
|
Preimplantation genetic haplotyping in genetically risk families
Borgulová, Irena ; Macek, Milan (advisor) ; Trávník, Pavel (referee) ; Veselá, Kateřina (referee)
PREIMPLANTATION GENETIC HAPLOTYPING IN GENETICALLY RISK FAMILIES Abstract of Irena Borgulova's PhD study Page 1/1 ABSTRACT Preimplantation genetic diagnosis (PGD) is at the intersection of assisted reproduction and clinical genetics. PGD precedes prenatal diagnosis because consists in biopsy of a single embryonic cell and its examination excluding genetic risks before embryo transfer back to mother uterus. Methods within PGD can offer all spectrums of possible investigations of a single cell, whether focused on monogenic disorders, chromosomal aberration or abnormality of whole genome. Monogenic diseases in embryos can be detected by direct or indirect linkage analysis. Indirect linkage analysis has the advantage compared to direct analysis that it is able to indentify pertinent aberration of examined chromosome. Indirect linkage analysis is characterised by preimplantation genetic haplotyping (PGH) which is prime and important constituent of PGD cycle. PGH is based on family anamnesis for determination of pathologic/ high-risk (mutation-associated) haplotype and healthy/ low-risk (without mutation) haplotype by comparison with the haplotypes of other family members. PGD cycle requires in vitro fertilisation (IVF). IVF cycle includes hormonal stimulation, biopsy of oocytes and their fertilisation outside...
|
|
|
The increased diagnostic efficiency of QF-PCR for aneuploidy of amniotic fluid
Sedláková, Zdeňka ; Macek, Milan (advisor) ; Daňková, Pavlína (referee)
Quantitative fluorescence polymerase chain reaction (QF-PCR) is a molecular genetic method based on the amplification of microsatellites (Short tandem repeats, STR) and measurement of the peak heights of amplicons in the electropherogram. Currently, the QF-PCR deemed reliable, fast, and inexpensive method that is gradually replacing conventional cytogenetic analysis of aneuploidy (examination of long-term cultures of amniotic fluid). However, in certain cases it is impossible to determine the parental origin and meiotic aneuploidy by QF-PCR. The aim of this work was to verify the new dinucleotide STR markers on chromozomes 13, 16, 18, 21, and 22 and further increase the diagnostic efficiency of QF-PCR retaining other STR markers on chromozome 15, 16, 22 and to determine the population and the analytical characteristics of these markers. For all dinucleotide STR markers stutter occurred in high frequency and therefore there were found not to be suitable for routine diagnostics. STR markers for chromozomes 15, 16 and 22 were tested on 100 patients. We selected four informative markers for both chromozome 16 and 22, and three markers for chromozome 15. Thus, I expanded set of diagnostic STR markers in this thesis.
|
|
| |
guest ::
