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Lactose intolerance
Kašpárková, Týna ; Hubáček, Jaroslav (advisor) ; Trachta, Pavel (referee)
(v AJ) The diploma thesis deals with problém called lactose introlerance. The theoretical part focuses primarily on what lactose, lactase and lactose inttolerance are. Its types, causes and symptoms, occurrence in the population (Czech and worldwide), diagnostic possibilities, both genetic and non-genetic and possible ways of prevention and treatment of this metabolic disorder. Other processed points are nutritional values of milk and dairy products, their importance in the diet, processing of milk and dairy products and their possible alternatives in the form of lactose-free milk preparations and so-called vegetable milk. The aim of the practical part of the thesis was to find out the respondents' awareness of lactose and lactose intolerance. Their consumpiton of milk and dairy products and knowledge and consumption of its plant substitutes. The results were examined by means of questionnaire survey, which was attended by both the ''lay'' public and persons with health education or health care. My result was that most respondents knew about the problem of lactose introlerance and its characteristics, up to 89.5 % of all tested. However, the public is less aware of the importance of milk and dairy products in the diet to prevent certain diseases. keywords: lactose intolerance, lactose, lactase,...
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Lactose intolerance - facts and myths
Staroveská, Natálie ; Hubáček, Jaroslav (advisor) ; Raška, Ivan (referee)
The thesis deals with the lactose intolerance issue and the myths linked with milk consumption. The theoretical part describes milk composition, the most frequently used technologies in the dairy industry, types of milk (animal origin including breast milk) and types of dairy products on the Czech market. The meaning of milk in human nourishment regarding the prophylaxis of many diseases is also included. The terms lactose and lactase are explained. These are connected with the main part of the thesis describing lactose intolerance and its types, symptoms, diagnostics and therapy including lactose free diet. The cow's milk protein allergy is also mentioned as the second most frequent disease connected with milk consumption. In the end of the theoretical part the myths about milk consumption are explained. The practical part finds out the extent of refusing milk and dairy products, its reasons (lactose intolerance vs. myths) and diary replacement of the main nutrients. Final data were gained by questionnaire including 101 people. It shows us that the incidence of refusal of milk consumption is considerable (58%). The main reason for the refusal is lactose intolerance (45%) but the diagnose is frequently based on subjective opinion. Most of the people refusing milk are not interested in an...
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Genetic determination of type 2 diabetes mellitus, analysis of selected genes - THADA, MAEA, JAZF1 and ARAP1
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kaňková, Kateřina (referee)
Introduction: Type 2 diabetes mellitus (T2DM) is a worldwide spread disease of affluence which prevalence has been growing. Although, the probability of its manifestation is being linked above all with environmental factors, genetic susceptibility plays an important role too. The aim of this thesis was to find out the association of four polymorphisms with the risk of T2DM manifestation in Czech population. Polymorphisms rs10203174 THADA, rs6819243 MAEA, rs849135 JAZF1 and rs1552224 ARAP1 (CENTD2) were chosen based on their risk in British population. Methodology: We studied groups of 712 Czech patients with T2DM and 752 healthy controls selected as a random sample of Czech population in the post-MONICA study. For a genotypisation rs10203174 and rs6819243 we used the PCR-RFLP method. For an analysis of genotypes rs849135 and rs1552224 was used the real-time PCR method. The results were analysed via odds ratio (OR) a chi-square test. Results: In case of the rs1552224 variant, the risk was proved with statistical significance (P = 0,01). The value of OR for the risk allele T is 1,37 (95% CI 1,07-1,75). In case of the polymorphisms rs10203174, rs6819243 and rs849135 no significant association with the disease was proved. For rs10203174 the value of OR of the allele C is 1,20 (95% CI 0,91-1,56, P = 0,20), OR of...
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Analysis of selected genetic markers in patients after heart transplant
Petříková, Nikola ; Hubáček, Jaroslav (advisor) ; Vrablík, Michal (referee)
Heart transplantation is performed in patients with end-stage heart failure, in whom all other methods of treatment failed. The most common causes of end-stage heart failure are dilated cardiomyopathy and coronary artery disease. The destiny of these patients is highly variable. Prediction of long term survival in patients after heart transplantation is not satisfactory and up to now has not been found reliable marker. Most of the patients die after heart transplantation due to cardiovascular disease. This thesis is focused on molecular genetics and statistical analysis of four single nucleotide polymorphisms, namely rs17817449 (16q12.2, FTO gene), rs2943634 (2q36.3; intergenic region), rs6922269 (6q25.1; MTHFD1L gene), and rs10757274 (9p21.3; intergenic region). According to genome wide association studies are these SNPs assosiated with cardiovascular diseases. We genotyped DNA samples of 364 heart donors and 364 heart recipients. The results were statistically compared (using OR and Pearson's χ2 test) with the control group, which consisted of samples of individuals from the general population MONICA study. We examined the genotype in patients whose hearts failed due to dilated cardiomyopathy or coronary artery disease and then in patients with cardiac allograft vasculopathy. Furthermore, we focused on...
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Diabetes mellitus, environmental and genetic risk factors
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kovacs, Peter (referee)
Diabetes mellitus (DM) is globally widespread group of diseases characterised by increased blood glucose. There are several types, the most common is type 1 DM and type 2 DM. Multifactorial polygenic inheritance is typical for DM with exeption of couple monogenic forms. Type 1 DM is autoimmune form usually manifesting since childhood. Its manifestation is influenced mostly by HLA system genotype, but also by non-HLA genes together with environmental factors, amongst which nutrition of the children is predominant. Type 2 DM develops usually in adulthood. The development is influenced by obesity and lack of movement, but the individual sensitivity to type 2 DM is also genetically determined. Main genetic factors are variations in genes TCF7L2 and FTO as well as in genes coding cyclin dependent kinases.
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Relationship of apolipoprotein E polymorfism on the functional fitness in the elderly
Šnejdrlová, Michaela ; Češka, Richard (advisor) ; Hubáček, Jaroslav (referee) ; Zadák, Zdeněk (referee)
(EN) Background: The life expectancy is defined by a combination of genotype (25%) and environmental influences, including lifestyle (75%). Nevertheless a stronger genetic influence is expressed in long-living individuals. Epsilon gene for apolipoprotein E (APOE) belongs among the most studied so called "candidate genes of longevity". The association of APOE polymorfism is proved in relation to many diseases (hypercholesterolaemia, cardiovascular disease, Alzheimer disease), thus we tried to evaluate the relation of APOE polymorfism and senior fitness. Methods: In our pilot study we examined a total number of 128 patients (93 women, 35 men), all of them older than 80 years, average age 88.6 ±5.3 years. Examinations: A) detailed examination of functional fitness (ADL, MMSE, Yeassavage's depression scale , MNA, 6-MWT). Based on this complex examination, patients have been sorted to 5 functional categories according to W. Spirdus, these categories objectively express the level of self - sufficiency. B) laboratory examinations C) examintaion of APOE gene polymorphism using DNA restriction analysis, DNA isolated from peripheral leucocytes Results: Our pilot study proved statisticaly significant relation (p = 0,0248) between allele E4 and functional fitness in senior age. According to the results of...
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Role of the FTO gene in the genetic determination of common multifactorial diseases
Dlouhá, Dana ; Hubáček, Jaroslav (advisor) ; Černá, Marie (referee) ; Rossmeislová, Lenka (referee)
Obesity is a risk factor for development of cardiovascular disease, diabetes type 2 and some cancers. Newly detected genetic risk factor for body weight is the FTO gene ("fat mass and obesity associated"). The aim of this thesis was determine 1) whether the presence of risk alleles correlate with BMI in Czech population and to determine 2) whether there is an association between variants in the FTO gene and risk of myocardial infarction/ acute coronary syndrome (MI/ ACS), 3) renal failure (ESRD), or 4) incidence of colorectal cancer (CRC). We analyzed polymorphisms rs17817449 (first intron) and rs17818902 (3rd intron) using by PCR-RFLP and then also RT PCR. We found an association of the first intron variant (but not the 3rd one) and BMI in Czech control population. We have detected an association of 1st intron SNP and BMI changes during the intervention study in obese children, but not in obese females. We found a correlation between the risk allele and increased risk of ACS (OR 1.49) in patients with MI. In patients with ESRD was detected association between the risk allele and the risk of disease (OR 1.37). We didn't confirmed the association between rs17817449 and the development of CRC. Representative selected groups of the Czech populations "MONICA" and "HAPPIE" were used as controls. One...
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Genetic aspects of Crohn's disease
Hradský, Ondřej ; Cinek, Ondřej (advisor) ; Petřek, Martin (referee) ; Hubáček, Jaroslav (referee)
JednosmmJw.ý SOWlrn vanglitrlné Crohn'. _ oe (COl h.. been ohown ..._Ied YIiIh Ihe variant. o, NOD2, ATGI51.! ond IL23R gene. , o, Ihe IB051<>1:...... _ .. o, oIher gene> 0,_ in the irnm..... respoooe_ T"" ~cies <>f Ihe von..l> pro!oundIy <line< _ popuIoIiooo """ 10 doeo the .osoe..ted IN_ Moreo_, II!e """ <>f the IB05 Iocu. _ ClU_ gene .. de",Iopm",,' ol Crohn'. <lise.... h...... .,.,.., c_We e. omined Ihe ~. ol ,onanl> .. the N002, ATGI51.! , 1L2JR, TIIFA _ PTPl/22 gene roI V3t\aI1" in IBOS _ CTLH d"romooomol fegions wiIh ped;atric-on...' and odul-onoet co .. ..., C,ecl> """"",boo. The ge_, phenoly;>o, _ . _ Irequencies '01<= compe<ed between .59 unrelo1ed P'_ wiIh CO 000 HO on<eI3led _ y cootrols_ The strongest oooo<..tion wiIh CD >on found .. NOD2 gene (1fIret> V_I, loIowed by "'" v_nto o, 1B05 1<>1:.... (IGR206Jb_ ' , ,.65960151, _.~'" asoociotion YIiIh vorian1 .. 1L23R ond ATGlfiLl _ , _ "" ~ .osoc:i3tion,.,.. _for the p.R62OW vofi.ant .. the PTPN22 ge"" or forthe 9_2306G>A variant .. the TIIFA gene. We hove rep<lfled . ~h ~t"j ol the minor'" ol trie NODll007fs poIymorpIlism o, "e Czecl> popuIrioo _ . otrong e!leC1 ol """ alele on " e _ .1 diagnoo.ia ond .,.. Iofm ol <Iise,...,_ o..,. OILl<Iy confi'm. the mpoflonce ol IB05 in det""" .....g CO . UK<'ptibMy, ond _"'Ol,," lhal IWO indepe_'"...
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Variability in LPA gene transcription regulatory sequences
Zídková, Kateřina ; Češka, Richard (advisor) ; Hubáček, Jaroslav (referee) ; Freiberger, Tomáš (referee)
Charles University in Prague, The First Faculty of Medicine Thesis: Variability in LPA gene transcription regulatory sequences Name: Mgr. Kateřina Zídková Thesis Adviser: Prof. Richard Češka, M.D., Ph.D. Consulting Thesis Adviser: Assoc. Prof. Milada Kohoutová, M.D., Ph.D. Summury of Doctorate thesis Increased Lp(a) concentration is an independent risk factor for premature atherosclerosis. The Lp(a) concentration is almost entirely genetically determined with an exclusive linkage to a unique locus, the gene for apo(a), so called LPA locus. Nevertheless Lp(a) concentrations varies widely between individuals in all populations studied so far. There is a LPA gene size heterogeneity (KLPAIV type 2 repetition) accounting for 40-60% of the variance. Some of the variance could be additionally related to polymorphic sites either in the coding sequence or in transcription regulatory regions of LPA gene. We had scanned the LPA gene transcription regulatory regions (promoter, DHII, and DHIII enhancers) for variabilty. None of them was revealed to be extremely polymorphic. However significant linkage disequilibrium was detected even between polymorphic sites from far regulatory sequences. We have investigated if certain compound genotypes of apo(a) gene regulatory sequences could be associated with a narrow range of...
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