BACKGROUND AND OBJECTIVES: The aim of the study was to optimize routine non-invasive prenatal detection of fetal RHD gene from plasma of RhD-negative pregnant women (the median of gestational age was 25 weeks, range 10-38) to detect RhD materno-fetal incompatibility and to avoid the redundant immunoprophylaxis. MATERIALS AND METHODS: Initially only one exon of RHD gene (exon 10) was investigated in 281 plasma samples (144 verified after delivery), in the second phase three RHD exons (5, 7, 10) were analyzed in 246 samples of plasma and maternal genomic DNA (204 verified) by real-time PCR method. Detection of Y-chromosomal sequence DYS-14 and five X-chromosomal insertion/deletion polymorphisms was used to confirm the fetal cfDNA detectability in plasma. Specific polymorphisms in RHD gene were detected by sequence-specific primer PCR in nine samples. RESULTS: When only the RHD exon 10 was tested, 2·8% of verified samples were false positive and 3·5% false negative. With three RHD exons (5, 7, 10) and maternal genomic DNA testing, only one case was false negative (0·5%). Nine samples were inconclusive due to RHD-positive results in maternal genomic DNA. These samples were analyzed for specific mutations in RHD gene. Combination of both methods for fetal cfDNA verification succeeded in 75% of tested group. CONCLUSION: Implementation of analysis of three RHD exons and maternal genomic DNA to routine practice lowers dramatically the ratio of false positive and negative results. This method enables more accurate determination of fetal RHD status with the reduction of unnecessary medical care and RhD immunoprophylaxis.
- MeSH
- DNA MeSH
- genotyp MeSH
- kojenec MeSH
- krevní skupiny - systém Rh-Hr * genetika MeSH
- kvantitativní polymerázová řetězová reakce MeSH
- lidé MeSH
- plod MeSH
- prenatální diagnóza * MeSH
- těhotenství MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Rhesus factor polymorphism has been an evolutionary enigma since its discovery in 1939. Carriers of the rarer allele should be eliminated by selection against Rhesus positive children born to Rhesus negative mothers. Here I used an ecologic regression study to test the hypothesis that Rhesus factor polymorphism is stabilized by heterozygote advantage. The study was performed in 65 countries for which the frequencies of RhD phenotypes and specific disease burden data were available. I performed multiple multivariate covariance analysis with five potential confounding variables: GDP, latitude (distance from the equator), humidity, medical care expenditure per capita and frequencies of smokers. The results showed that the burden associated with many diseases correlated with the frequencies of particular Rhesus genotypes in a country and that the direction of the relation was nearly always the opposite for the frequency of Rhesus negative homozygotes and that of Rhesus positive heterozygotes. On the population level, a Rhesus-negativity-associated burden could be compensated for by the heterozygote advantage, but for Rhesus negative subjects this burden represents a serious problem.
- MeSH
- dítě MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci MeSH
- genotyp MeSH
- heterozygot MeSH
- homozygot MeSH
- krevní skupiny - systém Rh-Hr genetika MeSH
- lidé MeSH
- míra přežití MeSH
- polymorfismus genetický * MeSH
- regresní analýza MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Detection and characterization of circulating cell-free fetal DNA (cffDNA) from maternal circulation requires an extremely sensitive and precise method due to very low cffDNA concentration. In our study, droplet digital PCR (ddPCR) was implemented for fetal RHD genotyping from maternal plasma to compare this new quantification alternative with real-time PCR (qPCR) as a golden standard for quantitative analysis of cffDNA. In the first stage of study, a DNA quantification standard was used. Clinical samples, including 10 non-pregnant and 35 pregnant women, were analyzed as a next step. Both methods' performance parameters-standard curve linearity, detection limit and measurement precision-were evaluated. ddPCR in comparison with qPCR has demonstrated sufficient sensitivity for analysing of cffDNA and determination of fetal RhD status from maternal circulation, results of both methods strongly correlated. Despite the more demanding workflow, ddPCR was found to be slightly more precise technology, as evaluated using quantitative standard. Regarding the clinical samples, the precision of both methods equalized with decreasing concentrations of tested DNA samples. In case of cffDNA with very low concentrations, variance parameters of both techniques were comparable. Detected levels of fetal cfDNA in maternal plasma were slightly higher than expected and correlated significantly with gestational age as measured by both methods (ddPCR r = 0.459; qPCR r = 0.438).
- MeSH
- DNA krev genetika MeSH
- genotyp MeSH
- genotypizační techniky metody MeSH
- gestační stáří MeSH
- krevní skupiny - systém Rh-Hr genetika MeSH
- kvantitativní polymerázová řetězová reakce metody MeSH
- lidé MeSH
- odběr vzorku krve metody MeSH
- plod metabolismus MeSH
- polymerázová řetězová reakce metody MeSH
- prenatální diagnóza metody MeSH
- reprodukovatelnost výsledků MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
Rhesus-positive and Rhesus-negative persons differ in the presence-absence of highly immunogenic RhD protein on the erythrocyte membrane. The biological function of the RhD molecule is unknown. Its structure suggests that the molecular complex with RhD protein transports NH3 or CO2 molecules across the erythrocyte cell membrane. Some data indicate that RhD positive and RhD negative subjects differ in their tolerance to certain biological factors, including, Toxoplasma infection, aging and fatique. Present cross sectional study performed on 3,130 subjects) showed that Rhesus negative subjects differed in many indices of their health status, including incidences of many disorders. Rhesus negative subjects reported to have more frequent allergic, digestive, heart, hematological, immunity, mental health, and neurological problems. On the population level, a Rhesus-negativity-associated burden could be compensated for, for example, by the heterozygote advantage, but for Rhesus negative subjects this burden represents a serious problem.
- MeSH
- dítě MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- incidence MeSH
- krevní skupiny - systém Rh-Hr genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- polymorfismus genetický MeSH
- průřezové studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- věkové rozložení MeSH
- zdravotní stav MeSH
- Check Tag
- dítě MeSH
- 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
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: Past research linked Toxoplasma gondii (TG) infection in humans with neurological and mental disorders (e.g., schizophrenia, Alzheimer's disease and attention disorders), irregularities of the dopaminergic and testosterone system, and increased likelihood of being involved in traffic accidents. METHODOLOGY/PRINCIPAL FINDINGS: We test for an association between TG infection and financial decision-making (DM) using a case-control design in a sample of female Czech students (n = 79). We estimate each subject's risk attitude and loss aversion using an experimental economic task involving real monetary incentives. We find no significant evidence that either measure of decision-making is associated with TG infection. CONCLUSION: We were unable to find evidence of an association between TG infection and financial decision-making in females.
- MeSH
- dospělí MeSH
- finanční řízení * MeSH
- krevní skupiny - systém Rh-Hr genetika imunologie MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- riskování * MeSH
- rozhodování MeSH
- sexuální faktory MeSH
- studie případů a kontrol MeSH
- toxoplazmóza komplikace diagnóza MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Latent toxoplasmosis is probably the most common protistan parasitic disease with many indirect negative impacts on human health. One of the important impacts is impaired psychomotor function leading to reduced driving efficiency in Toxoplasma-seropositive subjects. Numerous case-control studies have established a positive relation between the seroprevalence of Toxoplasma gondii (Nicolle et Manceaux, 1908) and probability of traffic accidents in study populations. The prevalence of toxoplasmosis varies between populations according to local geographical conditions, hygienic practices and kitchen habits. Similarly, we see a striking variation in the incidence of traffic accidents across countries. Hence, we compiled the largest ever data set on the seroprevalence of toxoplasmosis and tried to understand its role in traffic accident-related deaths and disabilities across 87 countries. Simple non-parametric analysis showed a positive and strong relation of T. gondii seroprevalence and traffic accident related disabilities. Further, we conducted multivariate analysis to control for confounding factors. After controlling for wealth, geographical latitude, health of population, length of roads and number of vehicles, the correlation disappeared. When the frequency of RhD negativity and its interaction with toxoplasmosis were included into the model, the effects of toxoplasmosis seemingly returned. However, the analysed data suffered from the problem of multicollinearity. When a proper method of analysis, ridge regression, was applied, the effects of toxoplasmosis prevalence and RhD negativity frequency disappeared again. The existence of a strong correlation between the prevalence of toxoplasmosis and health of population in particular countries, which was the probable cause of multicollinearity and possible reason for the negative result of the present study, suggests that 'asymptomatic' latent toxoplasmosis could have a large impact on public health.
- MeSH
- celosvětové zdraví MeSH
- doprava MeSH
- dopravní nehody statistika a číselné údaje MeSH
- krevní skupiny - systém Rh-Hr * genetika MeSH
- lidé MeSH
- rizikové faktory MeSH
- séroepidemiologické studie MeSH
- toxoplazmóza epidemiologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Cíl studie: Cílem tohoto přehledu je dát ucelený pohled na erytrocytární aloimunizaci těhotných žen, klinický význam a laboratorní diagnostiku. Typ studie: Přehledová práce. Název a sídlo pracoviště: Fakultní nemocnice Olomouc, Lékařská fakulta Univerzity Palackého v Olomouci, Transfuzní oddělení, Porodnicko-gynekologická klinika, Ústav lékařské genetiky a fetální medicíny. Předmět a metodika studie: Na základě analýzy publikací vyhledaných v databázích PubMed, Google Scholar, Ovid zaměřené na jednotlivé erytrocytární aloprotilátky, klinický význam a laboratorní diagnostiku byl sestaven současný přehled znalostí. Závěr: Erytrocytární aloimunizace anti-D aloprotilátkou klesá v souvislosti se zavedením anti-D imunoprofylaxe. Imunizace non RhD protilátkami s ohledem na nemožnost podání profylaxe zůstává stále klinickým problémem.
Objective: The aim of this review is to give comprehensive summary of erythrocyte alloimunization of pregnant women, laboratory dignostics and clinical importance. Design: Review. Setting: University Hospital Olomouc, Transfusion Department, Department of Obstetrics and Gynecology. Subject and method: Based on literature analysis using database search engines PubMed, Google Scholar, Ovid in field of erythrocyte antibodies, laboratory diagnostics and clinical importance up-to-date knowledge. Conclusion: Erythrocyte alloimunization anti-D antibodies decreases in connection with the introduction of immunoprofylaxis. Immunization of non RhD antibodies with impossibility using of immunoprofylaxis remains still clinical problem.
- Klíčová slova
- RhD protilátky, anti-D antibodies,
- MeSH
- ABO systém krevních skupin MeSH
- antigeny krevních skupin genetika imunologie genetika imunologie MeSH
- erytrocyty imunologie MeSH
- hemolytická nemoc plodu a novorozence diagnóza prevence a kontrola MeSH
- incidence MeSH
- komplikace těhotenství * diagnóza genetika imunologie MeSH
- krevní skupiny - systém Kell genetika imunologie MeSH
- krevní skupiny - systém MNSs imunologie MeSH
- krevní skupiny - systém Rh-Hr genetika imunologie MeSH
- lidé MeSH
- prenatální diagnóza * MeSH
- první trimestr těhotenství MeSH
- Rh izoimunizace * diagnóza genetika imunologie MeSH
- těhotenství * MeSH
- transfuze erytrocytů škodlivé účinky MeSH
- Check Tag
- lidé MeSH
- těhotenství * MeSH
- ženské pohlaví * MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
BACKGROUND: Rhesus-positive and rhesus-negative persons differ in the presence-absence of highly immunogenic RhD protein on the erythrocyte membrane. This protein is a component of NH(3) or CO(2) pump whose physiological role is unknown. Several recent studies have shown that RhD positivity protects against effects of latent toxoplasmosis on motor performance and personality. It is not known, however, whether the RhD phenotype modifies exclusively the response of the body to toxoplasmosis or whether it also influences effects of other factors. METHODOLOGY/PRINCIPAL FINDINGS: In the present cohort study, we searched for the effects of age and smoking on performance, intelligence, personality and self-estimated health and wellness in about 3800 draftees. We found that the positive effect of age on performance and intelligence was stronger in RhD-positive soldiers, while the negative effect of smoking on performance and intelligence was of similar size regardless of the RhD phenotype. The effect of age on four Cattell's personality factors, i.e., dominance (E), radicalism (Q(1)), self-sentiment integration (Q(3)), and ergic tension (Q(4)), and on Cloninger's factor reward dependency (RD) was stronger for RhD-negative than RhD-positive subjects, while the effect of smoking on the number of viral and bacterial diseases was about three times stronger for RhD-negative than RhD-positive subjects. CONCLUSIONS: RhD phenotype modulates the influence not only of latent toxoplasmosis, but also of at least two other potentially detrimental factors, age and smoking, on human behavior and physiology. The negative effect of smoking on health (estimated on the basis of the self-rated number of common viral and bacterial diseases in the past year) was much stronger in RhD-negative than RhD-positive subjects. It is critically needed to confirm the differences in health response to smoking between RhD-positive and RhD-negative subjects by objective medical examination in future studies.
- MeSH
- dospělí MeSH
- fenotyp MeSH
- inteligence genetika MeSH
- kouření genetika MeSH
- krevní skupiny - systém Rh-Hr genetika metabolismus MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- osobnost genetika MeSH
- ozbrojené síly * MeSH
- psychomotorický výkon * MeSH
- toxoplazmóza genetika MeSH
- věkové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Osoby s pozitivním Rh faktorem jsou více chráněny vůči patogenním vlivům zevního prostředí včetně poruch navozených latentní infekcí Toxoplasma gondii, stárnutím a patrně i únavou. Studie se zaměřila na podíl Rh faktoru na modifikaci klinického obrazu schizofrenie. V populaci 186 schizofrenních pacientů, účastníků denního stacionáře, jsme zjištiovali, zda RhD fenotyp ovlivňuje klinický obraz onemocnění u pacientu se schizofrenií vyšetřených na sérologickou přítomnost toxoplazmové infekce. Zjistili jsme, že RhD fenotyp vykazoval signifikantní vliv na obraz onemocnění u schizofrenních pacientů, zejména u žen. RhD-negativní ženy vykazovaly více pozitivních příznaků schizofrenie a větší míru zkreslení reality v PANSS škále než RhD-pozitivní ženy. U mužů ovlivňoval RhD fenotyp průběh onemocnění podstatně méně a obvykle opač¬ ným způsobem než u žen. Délka hospitalizace v počtu dní byla signifikantně delší u RhD-negativních žen oproti RhD-pozitivním ženám a byly jim ordinovány i vyšší dávky antipsychotik. Efekt RhD fenotypu na průběh schizofrenie nesouvisel s obdobným, již dříve popsaným efektem toxoplasmózy, tj. uplatňoval se jak u infikovaných, tak neinfikovaných pacientů. RhD-pozitivní fenotyp můžeme považovat za nadějný protektivní faktor zmírňující klinické projevy schizofrenie.
Rh-positive factor subjects are better protected against pathogenic environmental factors including impairment associated with latent infec- tion of Toxoplasma gondii , aging and possibly also tiredness. Our study was focused on contribution of Rh factor to schizophrenia clinical picture modification. In the population of 186 schizophrenia patients who attended day-treatment structured programme we investigated w hether RhD phenotype has any clinical impact on clinical manifestation of schizophrenia patients who were tested for seropositivity to Toxoplasma infection. We found out that RhD phenotype was linked with significant impact on clinical presentation in schizophrenia patients es pecially in women. RhD-negative women showed more severe positive symptoms of schizophrenia and more pronounced reality distorsion dimension in PANSS scale in comparison to RhD-positive women. The course of the illness was substantially less influenced by RhD phenotype in men. Length of hospi- tal stay measured by number of days was significantly incr eased in RhD-negative women and they we re prescribed also high er dose s of anti-psychotics. The effect of RhD phenotype was independent on similar, already described, effect of toxoplasma infection, as it was o bserved both in Toxoplasma -infected and Toxoplasma -free patients. RhD-positive phenotype can be considered as a promising protective factor moderating cli- nical picture of schizophrenia.
- Klíčová slova
- protektivní faktory, latentní toxoplazmóza,
- MeSH
- antipsychotika terapeutické užití MeSH
- délka pobytu MeSH
- dospělí MeSH
- fenotyp MeSH
- financování organizované MeSH
- hospitalizovaní pacienti statistika a číselné údaje MeSH
- kohortové studie MeSH
- krevní skupiny - systém Rh-Hr genetika imunologie krev MeSH
- latence viru MeSH
- lidé MeSH
- psychiatrické posuzovací škály MeSH
- schizofrenie krev parazitologie MeSH
- sexuální faktory MeSH
- statistika jako téma MeSH
- toxoplazmóza diagnóza imunologie parazitologie MeSH
- věk při počátku nemoci MeSH
- vztah mezi dávkou a účinkem léčiva MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
