Biomedical subjects

J Horácek

Publications and source records attributed to J Horácek.

At least 19 recordsLinked to original sources

PubMed2006

[Resting energy expenditure during hemodialysis].

Very few studies have so far reported about resting energy expenditure (REE) in chronic renal failure and there is no information available on REE during hemodialysis (HD). Hypothetically, we can expect an increase in REE during HD procedure (due to the inflammatory response to extracorporeal blood circuit). However, such increase in REE could be modified by thermal balance of the procedure. In our study, REE was measured by indirect calorimetry (Deltatrac Datex) in a group of 13 HD patients (7 males and 6 females, mean age 59.8 +/- 13.5 years). In each patient, REE was assessed during two HD sessions: one isothermic and one thermoneutral. All other HD parameters were kept constant. The control group consisted of 14 healthy subjects (4 males and 10 females, mean age 41.3 +/- 20.5 years) with normal renal function. There was a significant difference in thermal balance between the two HD settings: -199 kJ/HD in isothermic and -4kJ/HD in thermoneutral HD sessions (p < 0.01). Measured REE values obtained in HD patients before HD session (7 316 +/- 919 kJ/day/1.73 m2) did not differ significantly from those of the healthy controls (7 264 +/- 1 016 kJ/day/1.73 m2). Similarly, there was no significant difference in calculated EE values (Harris-Benedict equation). In the 10th minute of the HD session, there was a slight, transitory decrease in REE (mean decrease by 3.2% during isothermic and by 2.8% during thermoneutral HD session, ns). In the 70th minute, REE returned to pre-dialysis values. After a light meal in the 110th minute REE increased by 8% during isothermic and by 6.3% during thermoneutral HD session. At the end of the HD session (i.e. in the 215th minute) REE again returned to pre-dialysis values. Intra-dialysis changes in REE were similar in both isothermic and thermoneutral HD sessions. The results of our study did not confirm the expected influence of HD procedure on REE in the two different thermal HD settings. We conclude that there is no significant difference between REE in HD patients and healthy controls and that REE values are not significantly influenced by hemodialysis procedure.

Calorimetry, Indirect↗

PubMed2006

[Prenatal diagnostics of birth defects in the Czech Republic--gestational week at the time of diagnosis].

UNLABELLED: AIM AND TYPE OF STUDY: A retrospective study and analysis of data on gestational week at the time of the birth defect diagnoses of both invasive and non-invasive type as well as on gestational week at the time of pregnancy termination in the Czech Republic over the 1996-2003 period. METHODOLOGY: Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data were collected for both birth defects as a total as well as for selected particular types: anencephaly, spina bifida, omfalocele, gastroschisis and Down syndrome. An analysis on gestational weeks at the time of diagnosis and/or pregnancy termination was performed. RESULTS: Mean gestational week at the time of diagnosis was 19.49 for total birth defects and 20.02 for pregnancy termination. Corresponding values (diagnosis x termination) in gestational weeks were as follows: Anencephaly 17.01 and 17.69, spina bifida 19.41 and 19.68, omfalocele 17.64 and 17.99, gastroschisis 17.63 and 1836, Down syndrome 19.81 and 20.43. CONCLUSIONS: Results of aggregate data analysis contribute to a better knowledge of different methods of prenatal diagnosis during different gestational periods. All values of mean gestational week at the time of diagnosis/pregnancy termination slightly decreased during the time of the study in all presented types of birth defects.

Congenital Abnormalities↗

PubMed2006

[Birth defects' occurrence in offspring of mothers taking 1st trimester medication in the Czech Republic in 1996-2004].

OBJECTIVE: An analysis of birth defects incidence in offspring of mothers taking 1st trimester medication in the Czech Republic in 1996-2004. TYPE OF STUDY: A retrospective demographical-epidemiological analysis of data from a National Register of Congenital Anomalies of the Czech Republic. METHODOLOGY: Data on birth defects in the Czech Republic from the Institute of Health Information and Statistics--National Register of Congenital Anomalies from the 1996-2004 period and a control group data on healthy children born to mothers taking medications from the same time period. Data on medication were analyzed in relation to particular defects and were also used in international databases. RESULTS: There were 1,125 children born with a birth defect to mothers taking 1st trimester medication making a total of 1,456 particular birth defects. A control group covered 1,321 exposed women giving birth to a child without any birth defect. Some types of congenital heart defects, cleft lip with cleft palate and limb reduction defects. A significantly higher risk was found also in following 5 types of drugs: anticoagulants, antihypertensives, peripheral vasodilatants, urologics and antiepileptics. CONCLUSIONS: A significantly higher risk was found for the following defects: anencephaly, spina bifida, congenital hydrocephalus, anophthalmia/microphthalmia and auricular and limb reduction defects. Although the results are not always unambiguous and are probably influenced by both information and recall bias, they complement data on adverse effects of drugs in pregnancy in the Czech Republic. They also stress the need for a high preliminary caution in drug prescription and for a complex and individual risk assessement by a clinical geneticist.

Abnormalities, Drug-Induced↗

PubMed2006

[Birth defects occurrence and their role in perinatal mortality in the Czech Republic in 2004].

OBJECTIVE: An analysis of birth defects occurrence in the Czech Republic in 2004 and a comparison to data from 1996-2003. TYPE OF STUDY: A retrospective analysis of data from a National Register of Congenital Anomalies of the Czech Republic. METHODOLOGY: Data on birth defects in the Czech Republic from the Institute of Health Information and Statistics--National Register of Congenital Anomalies from the 1996-2004 period were used. An analysis of incidence of selected type of birth defects was performed along with their contribution to perinatal mortality according to particular types of defects. RESULTS: There were 29 186 children born with a birth defect, out of it were 17,063 boys and 12,116 girls, an undetermined sex was reported in 7 cases. A mean incidence of birth defects 2004 in was 367.9/10,000 live births. Corresponding data from years 2003, 2002 and 2001 were 405.2, 4043 and 407.9/10,000 live births. CONCLUSIONS: Current data on birth defects in 2004 in the Czech Republic are presented with a comparison to a 8-year period. An analysis of temporal and demographic changes in birth defects incidence is given along with data on birth defects contribution to perinatal mortality in selected types of defects.

Congenital Abnormalities↗

PubMed2006

[A role of prenatal diagnostics in birth defects occurrence in the Czech Republic in 2004].

OBJECTIVE: An analysis of prenatal diagnostics of birth defects in the Czech Republic in 2004 and a comparison to data from 1996 - 2003. TYPE OF STUDY: A retrospective analysis of data from a Register of Prenatal Diagnostics of the Czech Republic. METHODOLOGY: Data on birth defects in the Czech Republic from particular departments of medical genetics and prenatal diagnostics from 1996 to 2004 time period was used. An analysis of data on prenatal diagnostics of selected type of birth defects was performed. RESULTS: During 1996 to 2004 period, a total of 4,126 prenatally diagnosed and terminated cases were reported. In 2004, 597 cases were reported, which presents 61.1 cases per 10 000 live births. (The mean rate from the total period under the study was 49.8 per 10 000 live births.) CONCLUSIONS: Current data on birth defects in a 9-year period in the Czech Republic are presented. The role of prenatal diagnostics in decrease of some severe types of birth defects is underlined.

Abortion, Eugenic↗

PubMed2006

[Infant mortality due to birth defects in the Czech Republic in 1994-2004].

UNLABELLED: AIM AND TYPE OF STUDY: A retrospective data study with an analysis of pre- and postnatal occurrence of selected types of birth defects in the Czech Republic during 1994 to 2004 period. An analysis of infant mortality rate in children with selected types of birth defects during their first year of life is described. METHODOLOGY: Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data on birth defects incidences were obtained from National Health registers - Institute of Health Information and Statistics (National Register of Congenital Anomalies and National Newborns Register) from the 1996-2004 period were used. A case analysis of incidences of 14 types of pre- and postnatally diagnosed birth defects was performed for the period 1994-2004. In postnatally diagnosed cases, an analysis of survival and extinction of particular types of defects during the first year of life was also performed. RESULTS: During 1994-2004, there were 1 030 069 children born in the Czech Republic. Including prenatally diagnosed cases, we registered 305 cases of anencephaly, 454 spina bifida, 156 encephalocele, 528 cases of congenital hydrocephalus, 304 omphalocele and 302 cases of gastroschisis, 241 oesophageal defects, 302 anorectal malformations, 312 cases of diaphragmatic hernia, 518 renal agenesis/hypoplasia cases, 529 cases of cystic kidneys and 1764 Down syndrome cases. Secondary prevention rate was high in neural tube defects (61-100%), abdominal wall defects (60-79%) and Down syndrome (63%). In operable defects, a first-year survival was lowest in congenital hydrocephalus (63%) and neural tube defects -excluding anencephaly - (82%). In abdominal wall defects, diaphragmatic hernia, oesophageal and anorectal malformations, the survival rate was, however, 76-91% of children. CONCLUSIONS: Birth defects present a major contribution to infant mortality and morbidity. Prematurity in a combination with a birth defect prolongs inpatient days and increases a need of a total parenteral feeding in a newborn and it also makes a worse prognosis for the infants with birth defects. An improvement of prenatal diagnostics with an early detection of the most severe types along with the associate ones could decrease incidences of such cases. A progress in surgical techniques and a special neonatal and infant intensive health care would also contribute an improvement of survival.

Congenital Abnormalities↗

PubMed2005

Experimental and theoretical evidence for long-lived molecular hydrogen anions H2- and D2-.

The existence of (metastable) molecular hydrogen anions H2(-), D2(-), and H3(-) is demonstrated. These anion species were produced by sputtering of TiH2 and TiD2 targets with Cs+ ions and were identified by accelerator mass spectrometry. From the respective flight times through the spectrometer, lifetimes for H2(-) and D2(-) of at least 3 micros and 4 micros, respectively, can be inferred. Theoretical calculations within the nonlocal resonance model predict the existence of highly rotationally excited anions with lifetimes in the micros range. It is proposed that in sputtering molecular hydrogen species with high rotational and vibrational excitation are formed that are stable on the time scale of the experiment.

Journal Article↗

PubMed2005

Relation of sex and estrous phase to deficits in prepulse inhibition of the startle response induced by ecstasy (MDMA).

Sensorimotor gating is the ability of a weak sensory event to inhibit the motor response to an intense stimulus. Drugs that act as serotonin releasers, such as MDMA (3,4-methylenedioxymethamphetamine), impair sensorimotor gating, which is measured as a prepulse inhibition (PPI) of the acoustic startle response. The first objective of the present study was to compare the effect of different doses of MDMA on PPI and the acoustic startle response (ASR) in male and female Wistar rats. The second objective was to examine the effect of MDMA on PPI across the estrous cycle in female rats. MDMA was administered in doses of 2.5, 5 and 10 mg/kg s.c. 15 min before the start of the experiment. The controls received saline in equivalent volumes. MDMA dose-dependently decreased PPI in both the male and female rats and produced higher levels of ASR in the male rats compared to the females. In addition, we found that female rats in the diestrous and metestrous phases are more sensitive to MDMA and showed higher deficits in PPI than female rats in the proestrous and estrous phases. Our result showed that female rats in the proestrous and estrous phases were less sensitive to the disruption of PPI by MDMA.

Acoustic Stimulation↗

PubMed2005

The influence of low-frequency left prefrontal repetitive transcranial magnetic stimulation on memory for words but not for faces.

Brain imaging studies suggest localization of verbal working memory in the left dorsolateral prefrontal cortex (DLPFC) while face processing and memory is localized in the inferior temporal cortex and other brain areas. The goal of this study was to assess the effect of left DLPFC low-frequency repetitive transcranial magnetic stimulation (rTMS) on verbal recall and face recognition. The study revealed a significant decrease of free recall in word encoding under rTMS (110% of motor threshold, 0.9 Hz) in comparison with sham stimulation (p=0.03), while no significant difference was found with facial memory tests. Our findings support the essential role of the left DLPFC in word but not facial memory and confirm the content specific arrangement of cortical areas involved in semantic memory. As a non-invasive tool, rTMS is useful for cognitive brain mapping and the functional localization of the category specific memory system.

Adult↗

PubMed2005

The effect of tryptophan depletion on brain activation measured by functional magnetic resonance imaging during the Stroop test in healthy subjects.

We investigated the role of serotonin in cognitive activation of the frontal cortex. The serotonergic system was affected by the administration of an amino acids mixture without tryptophan (tryptophan depletion). In a placebo-controlled double-blind cross-over study with 20 healthy volunteers, we tested the hypothesis that a tryptophan (serotonin) decrease affects the activation of prefrontal cortex by the Stroop test. Cognitive brain activation was evaluated by functional magnetic resonance imaging (fMRI). Tryptophan depletion decreased the plasma tryptophan level up to 90 % for five hours after the tryptophan-free drink had been consumed when compared with the same mixture with tryptophan (p?0.0001). Tryptophan depletion did not affect the Stroop test performance. We compared fMRI activation in both conditions (tryptophan depletion and placebo) with plasma tryptophan levels as the covariates. The tryptophan depletion increased the activation (fMRI signal) in the bilateral mediofrontal cortex, anterior cingulate and left dorsolateral prefrontal cortex. The present findings allow the postulate that serotonergic medial forebrain and cingulum bundle pathways play a role in the activity of cortical structures involved in Stroop test processing.

Adult↗

PubMed2005

[Birth defects in the Czech Republic--expected incidence in the coming years].

OBJECTIVE: The study was aimed to analyze expected incidence of birth defects as a whole and some selected types of birth defects on the basis of the mean values over the period of 1983-2002 in the Czech Republic. A possible incidence of birth defects in the Czech Republic in the coming years was evaluated. DESIGN: A statistical estimate and analysis of the expected incidence based on retrospective values of incidence of birth defects from the data of the Institute of the Care of Mother and Child (UPMD) and the Institute of Medical Information and Statistics of the Czech Republic (UZIS). METHODS: The estimate of incidence of birth defects as a whole as well as according to individual selected types with the application of exponential adjustment of time series with the time-weighted parameter for individual years of the retrospective period of time. RESULTS AND CONCLUSIONS: The statistical estimate indicates that 1,244,767 children should be born in the Czech Republic over the period of 2003-2015. In this period of time there should be 50,706-67,628 prenatally and postnatally diagnosed cases of birth defects in this republic. These our results represent an estimate of birth defects in the Czech Republic in the coming years and draw attention to the importance of registry of birth defects in the Czech Republic. The epidemiology of birth defects actually represents a multidisciplinary branch, which is primarily aimed at and providing data for the evaluation of quality of prenatal and postnatal care in the Czech Republic.

Congenital Abnormalities↗

PubMed2004

Importance of guided fine needle aspiration cytology (FNAC) for the diagnostics of thyroid nodules - own experience.

UNLABELLED: The aim of our study was to assess the accuracy and limitations of ultrasound guided fine-needle aspiration cytology (FNAC) of thyroid nodules. METHODS: The usg-FNAC results of 245 patients with thyroid nodules, who afterwards underwent thyroid surgery or who died, and autopsies were carried out, and compared retrospectively with cytologic results. Patients with malignant cytologic conclusion without histological confirmation after surgery or autopsy were excluded from the study (9 persons). The usg-FNAC results were divided as follows: group 1: diagnosis of malignancy (n = 30), group 2: suspicion of malignancy (n = 28), group 3: benign (n = 126), group 4: inconclusive (n = 29). RESULTS: Assuming the cytologic results of group 1 and group 2 were interpreted as being malignant and those of group 3 as being benign, the sensitivity, specificity and accuracy of usg-FNAC were 90 %, 85 % and 86 % respectively. Comparing the cytologic conclusions between a group of patients with follicular lesions and a subgroup of other lesions a statistically significant difference (p < 0,01) between both subgroups using Fisher's test was found. Sensitivity, specificity and diagnostic accuracy in subgroup of follicular lesions were low (71 %, 63 %, 67 %), while in the subgroup of other lesions were high (94 %, 86 %, 88 %). FNAC can specify the nature of focal lesion with high sensitivity, specificity and diagnostic accuracy in the cases of non-follicular lesions. Histological evaluation is required to specification of the nature in cases in which cytology is indicative of follicular proliferation.

Adolescent↗

PubMed2004

[Disagreement between findings of 99mTc-MIBI and 99mTc-pertechnetate scintigraphy scans in patients with primary hyperparathyroidism].

Sixty-two-year-old man was admitted to hospital for increased serum level of calcium (3.85 mmol/l) and incipient renal failure (urea 7.2 mmol/l, kreatinin 117 mumol/l). The reason of hypercalcaemia was intensive explored. Serum level of intact PTH was 383.6 pg/ml. We performed two-dimensional early and delayed (2 hours) scintigram after intravenous administration of 750 MBq 99mTc-sestamibi, i.e. double-phase technique. There was detected focus (diameter 20 mm) of increased sestamibi uptake with slow wash-out in distal part right thyroid lobe. Planar scintigraphy obtained after intravenous administration of 185 MBq 99mTc-pertechnetate detected focus of increased 99mTc-pertechnetate uptake in the same point too. Patient underwent right thyroid lobectomy. There was colloid nodular goiter. Under right thyroid lobe was detected spherical particle. This particle was ablated (diameter 20 mm, weight 4 gram). It was parathyroid adenoma. One month after ablation of parathyroid adenoma serum level of PTH was 23.1 pg/ml and serum level of calcium was 2.52 mmol/l. There was overlap of scintigraphy image of parathyroid adenoma under distal part of right thyroid lobe on 99mTc-sestamibi two-dimensional scintigram and scintigraphy image of hyperplastic node with increased activity in distal part of right thyroid lobe on 99mTc-pertechnetate two-dimensional scintigram.

Adenoma↗

PubMed2004

[Incidence and survival in children with selected types of congenital defects in the Czech Republic from 1994 to 2001. (Part 1)].

OBJECTIVE: Analysis of prenatal and postnatal incidence of selected types of birth defects in the Czech Republic in the period of 1994-2001. In the postnatally diagnosed cases the survival in the course of the first year of life was analyzed. Selected birth defects--anencephaly, spina bifida, encephalocele, neural tube defects, congenital hydrocephalus, Down syndrome, were investigated. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the UZIS Czech Republic in the period of 1994-2001. METHOD: The authors analyzed frequency of prenatally and postnatally diagnosed cases of 6 selected types of birth defects in the period of 1994-2001 in the Czech Republic. In cases where the diagnosis was established after birth, analysis of survival and death rate during the first year of life was performed for selected birth defects. RESULTS: In the period of 1994-2001, 745,410 children were born in the Czech Republic. There were 3,572 children with one or more birth defects diagnosed in this cohort during the first year of life. The mean incidence of all cases in this period of observation was 304.52 per 10,000 live born children. The percentage of prenatally diagnosed cases, ended for this diagnosis in the above mentioned period of observation, was on the average 72.5% in neural tube and the highest in anencephaly--more than 96%. In cases of congenital hydrocephalus it was higher than 45% and in Down syndrome it represented 56.5%. The survival in children with neural tube defects was 82.5% on the average, being obviously zero in anencephaly. The children with congenital hydrocephalus survive in more than 75% and those with Down syndrome survive in almost 95%. CONCLUSION: Incidence of these types of birth defects in newborns in the Czech Republic is presently lower than in previous years particularly due to successful prenatal diagnostics. Cases, where the diagnosis is established after delivery, represent an important part of perinatal, neonatal and post-neonatal mortality and morbidity.

Czech Republic↗

PubMed2004

[History of registration of prenatally and postnatally diagnosed congenital defects in the Czech Republic].

OBJECTIVE: Analysis of incidence of birth defects in general and the proportion of individual types of birth defects within the framework of registration of inborn defects in the period of 1961-2000 in the Czech Republic. DESIGN: A retrospective analysis based on registered birth defects from the material of Institute of Care for Mother and Child and IHIS from the period of 1961-2000. METHODS: The authors compared the real frequency of birth defects in the eighties and nineties with expected frequency calculated on the basis of mean values from the sixties and seventies. RESULTS AND CONCLUSIONS: The results between the expected and estimated values of the overall frequency of birth defects are based on two reasons. First of all there are changes in registration as such--increased numbers of registered types of birth defects, prolonged period of reporting the inborn defects up to 15 years old children, decreased levels of foetus viability and other factors. There is also the change of frequency caused by all-population changes (eradication of some infections, vaccination rate in the population, improved nutrition of the population, year-around availability of vitamins), the development of diagnostic methods (ultrasonographic methods) and, especially, the role of prenatal screening and prenatal diagnostic methods in practice.

Congenital Abnormalities↗

PubMed2004

[Occurrence and survival in children with selected types of congenital defects in the Czech Republic 1994-2001. Part 2].

OBJECTIVE: Analysis of prenatal and postnatal incidence of selected types of birth defects in the Czech Republic in the period of 1994-2001. In the postnatally diagnosed cases the survival in the course of the first year of life was analyzed. Selected birth defects--omphalocele, gastroschisis, abdominal wall defects, renal agenesis and hypoplasie, cystic kidney disease, diaphragm hernia. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the Institute of Health Information and Statistie of the Czech Republic in the period of 1994-2001. METHOD: The authors analyzed frequency of prenatally and postnatally diagnosed cases of 6 selected types of birth defects in the period of 1994-2001 in the Czech Republic. In cases where the diagnosis was established after birth, analysis of survival and death rate during the first year of life was performed for selected birth defects. RESULTS: In the period of 1994-2001, 745,410 children were born in the Czech Republic. There were 22,711 children with one or more birth defects diagnosed in this cohort during the first year of life. The mean incidence of all cases in this period of observation was 304.52 per 10,000 live born children. The percentage of prenatally diagnosed cases, ended for this diagnosis in the above mentioned period of observation, was 66% in abdominal wall defects, 55% in omphalocele and 77% in gastroschisis. In cases where the diagnosis was established after birth, 93.55% of children survived the first year of life. In cases of birth cystic kidney 25% were diagnosed prenatally and ended for renal agenesis and hypoplasie of the kidneys and 27% due to cystic kidney. In cases of diaphragmatic hernia, 31% of cases were diagnosed an ended prematurely after positive prenatal diagnosis, and about one third of affected children died during the first year of life. CONCLUSION: Incidence of these types of birth defects in newborns in the Czech Republic is presently lower than in previous years particularly due to successful prenatal diagnostics. Cases where the diagnosis is established after delivery represent an important part of perinatal, neonatal and post-neonatal mortality and morbility.

Congenital Abnormalities↗

PubMed2004

Immunohistochemical detection of the hMLH1 and hMSH2 proteins in hereditary non-polyposis colon cancer and sporadic colon cancer.

Defects in DNA mismatch repair system are involved in carcinogenesis of sporadic and inherited human cancers. We assessed the feasibility of using immunohistochemistry to detect tumors with DNA mismatch repair deficiency. We analyzed 81 samples (74 colon cancers (CC), 1 colon dysplasia and 6 extracolonic cancers) for hMLH1 and hMSH2 protein expression, microsatellite instability (MSI) and/or mutational analysis. A meta-analysis of the published data on immunohistochemistry of hMLH1/hMSH2 proteins was performed. Sensitivity and specificity of the method was calculated. Twenty four of 29 tumors from hMLH1/hMSH2 mutation carriers and 10 of 13 sporadic high frequency MSI tumors lost one of the proteins. None of the 42 tumors with stable microsatellites or low frequency MSI lost the proteins. Based on literature review of 49 publications on colorectal cancer, hMLH1 immunohistochemistry was able to detect 136 of 154 tumors from hMLH1 germline mutation carriers (the sensitivity of 88.3% [95%CI, 85.8-90.8%]), hMSH2 immunohistochemistry detected 99 of 109 tumors from hMSH2 mutation carriers (the sensitivity of 90.8% [95%CI, 88.5-93.1%]), and hMLH1/hMSH2 immunohistochemistry identified 1262 of 1382 tumors with high-frequency microsatellite instability not correlated with mutational analysis (the sensitivity of 91.3% [95%CI, 90.4-92.2%]). The specificity of the method was 99.4% (95%CI, 99.2-99.6%). In conclusion, immunohistochemistry of hMLH1 and hMSH2 proteins is a useful method to predict the presence of mismatch repair deficiency, although its sensitivity is lower than that of MSI analysis.

Adaptor Proteins, Signal Transducing↗

PubMed2004

[The incidence of birth defects in Czech Republic in 2002].

OBJECTIVE: Analysis of incidence of birth defects prenatally and postnatally diagnosed in the Czech Republic during 2002 and a comparison with the years 1996-2001. TYPE OF STUDY: Retrospective demographic-epidemiologic study. METHODS: Analysis of incidence of birth defects (BD) in live- and still-born children and the number of prenatally diagnosed cases of birth defects and chromosomal aberrations in the Czech Republic in 2002. The incidence data of BD were obtained from those registered in statistical reports, birth defect of foetus or child, which have been registered in the Institute for Medical Information and Statistics of Czech Republic. Those data, which became available to the authors by the end of October 2003, were processed. Supplementary data on prenatally diagnosed cases were obtained from individual workplaces of medical genetics in the Czech Republic. RESULTS: A total of 93,047 children were born in 2002 in the Czech Republic. There were reports on 3673 children with BD detected up to one year of life. There were 2131 boys ad 1542 girls affected with BD. The representation for 10,000 live-born children was 395.9 in comparison with 418.3 in the year 2000 and 405.0 in the year 2001. CONCLUSION: The total numbers of BD have not changed in the last three years, while the increase in 1998-2000 came to a halt in 2001 and 2002. The prenatal diagnostics for severe congenital defects in the Czech Republic prove to be at high level, which is comparable with advanced countries of the world.

Congenital Abnormalities↗