David Stejskal - Academia.edu (original) (raw)
Papers by David Stejskal
Ultrasound in Obstetrics & Gynecology, 2014
Electronic poster abstracts stored ultrasound images were blinded evaluated by an expert operator... more Electronic poster abstracts stored ultrasound images were blinded evaluated by an expert operator and results were compared. Results: 254 women were performed. 265 fetuses were examined (10 twin pregnancies). Average wg was 12,4 ± 0,4. Visualization of CRL, NT, NB , CC, AC, Upper and Lower Bones, falx cerebri, thalamus, lens, jaw, bone palate, stomach, lungs, upper and lower limb bones, bladder, umbilical arteries, cardiac four chambers (4Cw) and great vessels sections (3Vw) was above 98%(confirmed by expert operators). Discordant % of visualization was found for iNT (95 vs 90), Cerebellum (88%vs72%) brain stem (97%vs88%) Lens (100%vs95%) Diaphragm (99%vs92%) Thymus (14%vs11%). Kidneys (99%vs95%) renal arteries (92%vs55%) TR (96%vs90%) aortic arch (96%vs79%) DV (97%vs88%). Complete concordance between normal and abnormal evaluation was assessed. Conclusions: Ultrasound screening for fetal malformations at 11-13 + 6 wg is feasible even if performed after a brief training. Pitfalls in the visualization of kidneys, ductus venosus flow ant tricuspid regurgitation are frequent.
Vnitr̆ní lékar̆ství
Leptin is protein produced by mature adipocytes into the system circulation and gives information... more Leptin is protein produced by mature adipocytes into the system circulation and gives information to hypothalamic centers about fat amount in the organism. Leptin is supposed to play a causal role in energy output of the organism and influences the appetite (antiobese effect). Obese individuals were proved to have frequently hyperleptinemia. This disease is caused by a postreceptor disorder (however, several obese families had also normoleptinemia or even hypoleptinemia which is caused by polymorphism of Ob-gene). It was also found that leptin administration in animals leads to reduced appetite and decreased body weight. Interpretation of leptinemia in human is very complicated because leptinemia is influenced by many independent regulations (hormones, stress, food intake, motor activity atc.). Obesity is often associated with hyperinsulinemia and insulin resistance (a frequent cause of human mortality) so that correlations between insulin and leptin are intensively studied. Experimental models and animal studies revealed the existence of adipoinsular axis and it was found that insulin and leptin are contrahormones. In human studies, the majority of authors did not find correlation between leptinemia and markers of insulin secretion. Similar conclusions were drawn out in our previous paper [118]. This may be due to complex regulations of leptinemia in the organism and the use of biochemical markers with limited validity (insulin, C-peptide in fasting state and after stimulation). Therefore we decided to study correlation between leptinemia and intact proinsulin in the serum which is now considered to be the most valid marker of insulin secretion and provides information about an average "daily" insulinemia. This study was stimulated by the fact that increased leptinemia is found also in persons with prolonged hyperinsulinemia (a short-term hyperinsulinemia does not affect leptin concentration so that no available marker of insulin secretion is valid). We examined the group of 31 probands, patients of the Metabolic and Diabetologic Center at the hospital in Sternberk. They were diabetic patients of type 2 who were treated by peroral antidiabetics and insulin and who met criteria of good compensation. However, no correlation between leptinemia and proinsulinemia was found. We suppose that this failure was due to complicated fine regulations affecting leptinemia and also to the fact that intact proinsulin is not an "ideal" marker of a long-term hyperinsulinemia (correlation between insulin and leptin at euglycemic clamp indicates that there exist correlation between these parameters in human).
Vnitr̆ní lékar̆ství
Obesity is a disease with distinct genetic determination and its phenotype is defined by the stil... more Obesity is a disease with distinct genetic determination and its phenotype is defined by the still unknown number of genes whose expression can be influenced by environmental factors. Several years ago, "obesity gene" was isolated in animals. This gene, coding protein which consists of 165 amino acids, is called leptin. Leptin is supposed to be a key substance controlling homeostasis of body weight and energy balance; it is produced by adipocytes and its value correlates highly significantly with anthropometric parameters that characterize physical constitution and amount of subcutaneous fatty tissue. The obese individuals often display hyperleptinemia which is frequently caused by a postreceptor disorder; sporadically, a different leptin structure or hypoleptinemia (caused by genetic anomaly) are reported. It is supposed that either absolute or relative leptin deficiency in obese persons are associated with causal obesity (e.g. appetite stimulation). Leptinemia values correlate with percentage of subcutaneous fatty tissue, insulinemia and sometimes with glycemia. In our study we examined 200 probands, patients of the Metabolic and Diabetologic Out-Patient Department, Hospital in Sternberk. A very close correlation between the amount of subcutaneous fatty tissue (measured by a caliper in 10 skinfolds) and the leptine serum concentration was found. The values of leptinemia in men of normal constitution ranged within 1-11 ng/ml, non-obese women had 3-4 times higher values. Leptinemia in some obese individuals reached up to 70 ng/ml. However, the currently calculated and reported parameters of physical constitution (BMI, WHR, Grant index) did not correlate significantly with leptinemia. Similarly, biochemical parameters considered as general markers of insulin resistance (often associated with obesity) did not correlate significantly with leptinemia. This finding indicates that some calculated parameters, quantifying and gualifying physical constitution, may be ambiguous and leptinemia was found to give more detailed information about the amount of subcutaneous fatty tissue than WHR or BMI. An accidental finding was an important positive correlation between myoglobin concentration and creatinemia. At monitoring the effect of hypolipidemic agents we use the myoglobin examination and therefore we consider this correlation to be very important and every physician performing this analysis should be informed about it. The present study thus confirmed that a more accurate quantification of subcutaneous fatty tissue is required. On the other hand, we believe that examination of leptinemia can contribute significantly to stratification of patients into risk groups (with respect to clinical, economic and time differentiation) and subsequently to the treatment of these patients. In future, criteria for quantification of leptinemia and leptine resistance should be defined precisely.
Vnitr̆ní lékar̆ství
Hyperleptinemia is considered to be one of predictors of early atherosklerosis complications. Thi... more Hyperleptinemia is considered to be one of predictors of early atherosklerosis complications. This stimulated us to investigate differences between leptinemia in persons with accelerated atherosclerosis and leptinemia in probands without atherosclerosis complications. The study also verified whether leptinemia and its relationship to other anthropometric and biochemical parameters can differ in hypolipemic-treated probands and hypolipemic-untreated individuals. We examined 89 probands with accelerated atherosclerosis. The controls were 20 persons without any signs of accelerated atherosclerosis. Probands with accelerated atherosclerosis had a slight hyperglycemia and were slightly obese, but they did not meet criteria of metabolic cardiovascular syndrome. No significant differences between both groups under study were found in terms of anthropometric and biochemical parameters (BMI, % body fat, glycemia, insulin, C-peptide, intact proinsulin, total proinsulin cholesterol, HDL, triglycerides, LDL, homeostatic model of insulin secretion and resistance). Leptin concentration was not different as well. Stratification into males and females showed that women had a significantly higher leptinemia and fat tissue mass. Other biochemical parameters were similar in both groups. We suppose that in individuals without signs of metabolic syndrome, leptinemia does not belong among predictors of accelerated atherosclerosis. The accelerated atherosclerosis persons were then divided into subgroups according to medication (28 probands--pravastatin Lipostat 20, 15 probands--phenofibrate Lipanthyl 200M, 9 probands--simvastatin Zocor 20, 47 probands--no hypolipemic medication). No significant differences between the groups were found in terms of the analysed anthropometric and biochemical parameters, except leptinemia. The pravastatin-medicated probands had a significantly lower leptinemia (significant at 99% significance level) which was evidently sex-related than other patients. The pravastatin-administered persons showed no correlation between leptinemia and body fat mass (in contrast to other groups where such a correlation was highly statistically significant). These findings can be explained by a still unclear effect of pravastatin on insulin metabolism and on other factors involved in leptin synthesis and elimination. Thus, a new therapeutic effect of pravastatin can be supposed. This may account for a highly favourable effect of pravastatin on reduced manifestations of atherosclerosis complications event at a low LDL cholesterol decrease (particularly in persons with metabolic cardiovascular syndrome).
Acta Universitatis Palackianae Olomucensis Facultatis Medicae
Vnitr̆ní lékar̆ství
The purpose of the study was to verify whether the currently reported relationship between leptin... more The purpose of the study was to verify whether the currently reported relationship between leptinemia and adipose tissue mass can be applied to cases of acute coronary attack. An increased number of cytokines has been reported in severe acute myocardial infarctions so that correlation between cytokines and leptin was investigated. Correlation between standard coronary markers and leptinemia was also studied. We examined 48 probands, patients of the Coronary Unit, Hospital, Sternberk, who were hospitalized for acute myocardial infarction (AMI--16 probands) or for unstable angina pectoris (UAP--22 probands). The persons with AMI had leptinemia and a higher concentration of interleukine-6 (Il-6) and of cardial troponine-I (cTn-I) than individuals without coronary accident (UAP). Early after the acute coronary lesion, leptinemia in persons with AMI displayed a statistically significant positive correlation with concentration of interleukine-6 and subsequently of markers of coronary lesion severity (cTnI). No correlation between leptinemia and body weight was found in those probands. This study proved that leptinemia in the AMI individuals is influenced directly by concentration of cytokines which leads to leptin superproduction by fat cells and leptin resistance.
Vnitr̆ní lékar̆ství
Leptin is a small protein produced mainly by adipocytes. Recently, its relationship to obesity ha... more Leptin is a small protein produced mainly by adipocytes. Recently, its relationship to obesity has been studied extensively. It was proved that obese individuals have either relative or absolute leptin deficiency. Several years ago, leptin was found to be produced also by the placenta. This stimulated us to study relationship between leptinemia and placental hormones in 85 women in the second gravidity trimester. Within the prenatal screening, these pregnant women were subjected to analysis of AFP, hCG, SP-1 glycoprotein and leptin and the results obtained were processed statistically. The control group consisted of 20 nonpregnant women with tetany. Women in the second gravidity trimester were found to have a significantly higher leptinemia than nongravid women (even with respect to body weight). This may be due to a larger amount of adipose tissue during gravidity and also leptin-resistance. Moreover, we recorded a negative correlation between leptinemia related to body weight and concentration of SP-1 glycoprotein. This finding supports the presumption that mother's leptinemia correlated negatively in the second gravidity trimester with quality and quantity of the placental syncytiotrophoblast. Our findings can be explained as follows: the biological effect of leptin is metabolically unfavourable for the growth of the foetus and the placenta. An increased leptinemia with advancing gravidity can be caused by a larger fatty mass and an increased activity of adipocytes when leptin presence increases in system circulation but the organism begins to be leptin-resistant and an "unfavourable" metabolic effect fort the gravid woman and the foetus is not distinct. These findings thus support the hypothesis postulating the nonsignificance of leptin production in human placenta and on the contrary the necessity of leptin-resistance for foetus development from the metabolic point of view. Thus, a decreased leptinemia immediately before and after the delivery could be caused by the still unclear regulators of leptin sensitivity. This is again a metabolically highly favourable state (reduced appetite, decreased body weight, increased energy output and others).
Vnitr̆ní lékar̆ství
During the last decade several papers were published where obesity in included among the building... more During the last decade several papers were published where obesity in included among the building stones of the so-called metabolic cardiovascular syndrome (along with hypertension, dyslipidaemia, impaired glucose tolerance and hyperinsulinaemia). Several months ago it was also revealed that some patients with the metabolic syndrome suffer from hyperleptinaemia. Leptinaemia is considered by some authors as independent indicator of the risk of accelerated atherosclerosis. The cause of these hypothesis were (in addition to the known conclusions on the occurrence frequent incidence of leptin resistance and insulin resistance) in particular the results of experimental studies where evidence was provided that infusion induced hyperleptinaemia leads in animals to hypertension due to its direct effect on sympathicotonia and peripheral vascular resistance. The authors of these hypothesis assume that hyperleptinaemia (in particular in subjects with metabolic syndrome) in one of the basic causes of hypertension which is frequently encountered in these patients. To assess the relations between leptinaemia and the blood pressure reading (actual and mean values) and leptinaemia and the classification of hypertension according to WHO. The authors examined 35 hypertensive subject and 10 subject with tetanies (without hypertension). The blood pressure was assessed under standard conditions (rest, semi-recumbent position, three readings). The mean blood pressure readings during the last three months were obtained from case records. Leptin was assessed by the ELISA method of Bio Vendor Co. The group of hypertonic can be classified as subjects with mild obesity (BMI 30.1). The values of leptin were elevated but did not differ significantly from those of the normal population. No correlations were found between leptinaemia (incl. values calculated for BMI) and the actual and mean blood pressure readings. No correlations were found between leptinaemia (incl. BP calculated with regard to BMI) and the stage of hypertension according to WHO. Hypertonic subject do not differ significantly as to the serum leptin concentration from the general population. Leptinaemia does not correlate with the actual or mean blood pressure reading nor with stage of hypertension according to the WHO classification. Thus the authors did not confirm the hypothesis on the fundamental effect of leptinaemia on the genesis and development of hypertension. It is probable that leptin is only one of the many factors which have an impact on blood pressure.
Vnitr̆ní lékar̆ství
According to contemporary estimates diabetes is present in 120 million subjects. This disease is ... more According to contemporary estimates diabetes is present in 120 million subjects. This disease is associated with the incidence of a number of very serious organ complications and very frequently is diagnosed late (several years after its development). Because despite increased diagnostic and therapeutic efforts the number of diabetic patients is increasing, new diagnostic and therapeutic means are sought. Evidence was provided that some complications of diabetes develop not only in case of poor compensation but also in hyperinsulinaemia (hypertension, ischaemic heart and coronary artery disease etc.). In clinical practice it is however possible to assess hyperinsulinaemia or incipient insulin resistance only with difficulty because classical examinations (insulin and C-peptide on fasting) have a very low specificity and sensitivity. Therefore for estimation of insulin resistance loading tests are used (e.g. examination of insulin after stimulation with glucose, or C-peptide after stimulation with glucagon, insulin tolerance and suppression tests, or in research projects so-called minimal models or clamp techniques). Any loading test is however demanding from the aspect of time, money, technical aspects and staff and therefore possibilities are sought how to estimate the degree of insulin resistance and sensitivity in a specimen of biological material under basal conditions. OBJECTIVE OF INVESTIGATION: Because in the literature only sporadically assessment of intact proinsulin is mentioned as the ideal marker of insulin resistance under basal conditions, the authors decided to assess the relations between intact proinsulin (PI) and other biochemical parameters in patients with type 2 diabetes and dyslipidaemia (200 probands) and to assess whether PI correlates with the results of loading tests (modified oGTT with calculation of the sum and delta-insulin--120 probands). It was revealed that PI (contrary to insulin, C-peptide and total proinsulin) correlates with the results of the loading test characterizing insulin resistance (sum and delta insulin, correlation coefficient 0.84) (n=120 subjects). It was furthermore found that probands (n=200 subjects) who are followed up on account of type 2 diabetes or dyslipidaemia (or both) differ from the control group (n=20 subjects) as regards biochemical parameters only in the PI concentration (dispensarized patients have higher levels, p>0.99), whereby in other standard basal characteristics of insulin secretion and resistance the groups did not differ. The differences were correlated with HOMA models of insulin secretion and resistance and no correlations were found. The PI concentration in this group correlated significantly with the cholesterol, fibrinogen and triacylglycerol concentration. No relations were found between the values of intact proinsulin with C-peptide and insulin. Based on the results of their study the authors assume that examination of intact proinsulin is a valid "basal" indicator of insulin resistance. From the results ensues also that intact proinsulin is probably a very good predictor as regards the risk of development of cardiovascular disease.
Vnitr̆ní lékar̆ství
Leptin is a protein, determined by the ob-gene which influences in a fundamental way the energy m... more Leptin is a protein, determined by the ob-gene which influences in a fundamental way the energy metabolism of the organism. A significant effect of leptin on the haematopoietic, immunological and endocrinological system cannot be ruled out nor its effect on the course of pregnancy and maturation of the organism. In humans leptinaemia correlates with the amount of subcutaneous fat which is due to a receptor or post-receptor disorder, obese subjects suffer frequently from hyperleptinaemia. To assess the mean leptinaemia of the general population, seek relations between leptinaemia and anthropological indicators and age. Using the method of random sampling the authors examined a group of 538 probands (252 males, 286 females) incl. 12% healthy students of the Faculty of Physical Culture in Olomouc, 37% subjects without acute or chronic complications feeling in good health and 37% patients of the metabolic and diabetological ambulance of the hospital in Sternberk. In each patient a detailed case-history was recorded, an anthropological examination was made and a venous blood sample was taken for leptin analysis (serum, ELISA-sandwich method of BIOVENDOR Co.) Spectrum of patients, whose condition and age distribution in our group corresponded to the general population of the Czech Republic. The mean age of the probands was 51 years (18 to 82 years), the examined group can be characterized as subjects lacking signs of obesity. Leptinaemia was on average about 10 ng/ml (minimum 0, maximum 97.9 ng/ml), whereby men had values round 6 and women round 14 ng/ml (women had also a greater adipose tissue mass). Non-obese subjects (BMI<26) had a mean leptinaemia of 5 (women cca 6, men cca 2 ng/ml), obese subjects (BMI>30) have a leptinaemia of cca 19 ng/ml (women about 26, men about 13 ng/ml). With advancing age the leptinaemia in adults rises up to the age of 70, in subjects above 70 years it does not change (in women it declines significantly). The dynamics of leptinaemia imitate the changes of BMI and percentage of adipose tissue (in men also a rise in WHR). Leptinaemia is associated with the BMI (correlation coefficient 0.55), with the percentage of body fat (correlation coefficient 0.75), and in men with the WHR (correlation coefficient 0.82). The association between ageand leptinaemia is only indicated (correlation coefficient 0.29) and is not very close. According to the authors results subcutaneous body fat is responsible for cca 60% of the variability of leptinaemia (in women as much as 74%), BMI for 23%, age and sex for cca 9% of the vriability of leptinaemia. In men the WHR is responsible for 66% of the variability of leptinaemia. With an increase of subcutaneous adipose tissue by 1% the leptinaemia increases by some 0.54 ng/ml (in men by 0.22 ng/ml, in women by 0.84 ng/ml), with increasing BMI leptinaemia rises by 0.44 ng/ml/u (in men by 1.3 ng/ml, in women by 1.72 ng/ml), with advancing age leptin rises by 0.24 ng/ml/year (in men by 0.16 ng/ml, in women by 0.28 ng/ml), changes of leptinaemia imitate changes of BMI and the percentage of body fat. With increasing WHR in men the leptinaemia rises by 2.6 ng/ml/0.1 WHR. Standards of leptinaemia for the general population of the Czech Republic were elaborated. Leptinaemia correlates most closely of all anthropometric indicators with subcutaneous fat and in men with the WHR index. With advancing age between 20 and 70 years leptunaemia rises and then decliunes insignificantly (in women the changes are however significant). The primary cause of the mentioned differencesare probably changes of the bodily constitution.
Casopís lékar̆ů c̆eských
Adiponectin is a fat tissue protein that plays a role in maintaining the homeostasis of glucose a... more Adiponectin is a fat tissue protein that plays a role in maintaining the homeostasis of glucose and lipids, along with counteracting a number of risk factors associated with atherosclerosis and obesity. In addition, adiponectin has an effect on insulin sensitivity. The aim of this work was to assess concentrations of adiponectin in predefined groups of individuals and to analyse the associations between adiponectin and other metabolic parameters. The studied population comprised four groups of individuals, A-D. A--healthy controls, B--patients with impaired lipid metabolism, C--the obese, and D--patients with metabolic syndrome. When comparing the levels of adiponectin in groups of patients with impaired lipid metabolism (B), the obese (C), and patients with metabolic syndrome (D) with healthy controls (A), no statistically significant difference was observed between groups B and C and healthy individuals. In contrast, statistically significant difference was found when concentrations of adiponectin in patients with metabolic syndrome (D) were compared to those in healthy controls. Individuals with metabolic syndrome had the lowest levels of adiponectin - 5.3 mg/1 (men) and 5.6 mg/1 (women). The correlation coefficient for the association between adiponectin and HDL was R=0.57, for adiponectin and triglycerides R=-0.46, for adiponectin and BMI R=-0.37, for adiponectin and glycemia R=-0.34, for adiponectin and insulinemia R=-0.39, and for adiponectin and the QUICKI index R=0.44. One possible method of the complex evaluation of the metabolic syndrome development and its metabolic consequences is the assessment of adiponectin levels. Low levels of adiponectin indicate the development of insulin resistance.
Clinical Autonomic Research, 2015
An association between the CSF chromogranin A (CgA) and orthostatic blood pressure changes was in... more An association between the CSF chromogranin A (CgA) and orthostatic blood pressure changes was investigated in 20 patients in the early stage of Parkinson disease (PD). There was a positive correlation between the CSF CgA and diastolic blood pressure change, when CSF CgA levels were lower in patients with orthostatic hypotension (OH). Decreased CSF CgA may be useful in predicting OH in the early stage of PD.
Ceskoslovenská gynekologie
Ceska gynekologie / Ceska lekarska spolecnost J. Ev. Purkyne
Analysis of data from prenatal cytogenetic studies performed during 10 years. Retrospective analy... more Analysis of data from prenatal cytogenetic studies performed during 10 years. Retrospective analysis of cytogenetic results. Cytogenetic laboratory, Department of Clinical Genetics GENNET, Prague. Cytogenetic analysis of cultivated amniotic cells. 180 chromosomal pathologies, including 110 numerical and 70 structural, were diagnosed in 5743 samples of amniotic fluid. Relatively high number of structural aberrations was found also in groups of patients examined because of increased maternal age, abnormal values of biochemical markers and abnormal ultrasound findings. Chromosomal abnormalities in individual groups of patients, risk figures for de novo balanced structural aberrations, additional marker chromosomes and some mosaic findings as the management following the prenatal diagnosis of this abnormalities are discussed. On the basis of the great number of familiar structural aberrations in our material is recommended to pay attention to the detection of such anomalies also in groups of patients where numerical chromosomal changes are namely expected.
Sbornik lekarsky
Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cor... more Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cordocentesis FBS) have been used in Perinatal Centre of Central Bohemia. The chromosomal abnormalities in a group of 3,098 patients have been detected in 1.4% of fetuses. The inherited disorders were diagnosed using DNA analysis and biochemical examination of amniotic fluid. X-linked diseases in a group of 68 patients in 30.8% of fetuses have been diagnosed and inborn error of metabolism in a group of 29 indicated patients in 17.2% of fetuses were diagnosed. The incidence of fetal losses before 28th week of gestation was 0.4%.
Ceska gynekologie / Ceska lekarska spolecnost J. Ev. Purkyne
Objective: Informative review of possible causes and therapy of habitual pregnancy loss and infer... more Objective: Informative review of possible causes and therapy of habitual pregnancy loss and infertility. Design: Review. Settings: Department of Gynecology and Obstetrics, General Faculty Hospital of Charles University, Prague. Subject and method: The repeated (habitual) loss of pregnancy is defined by three or more spontaneous abortions. Approximately 0,4 to 1% of women are affected. The pregnancy loss is more frequent in women younger than 20 and older than 35 years. The frequency of spontaneous abortions parallels the number of previous pregnancies. The causative treatment of women with recurring abortions is not available, however, it is recommended that such women are evaluated by available methods to eliminate etiological causes of repeated pregnancy losses. Conlusions: Effective therapy is possible when the diagnostic reason for repeated abortions is determined. Nevertheless, the causes leading to repeated pregnancy losses are identified only in approximately 12% of women. Ho...
European Journal of Medical Genetics, 2015
Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystroph... more Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD gene. Typical WWS brain anomalies, such as cobblestone lissencephaly, hydrocephalus and cerebellar malformations, can be prenatally detected through routine ultrasound examinations. Here, we report two karyotypically normal foetuses with multiple brain anomalies that corresponded to WWS symptoms. Using a SNP-array examination on the amniotic fluid DNA, a homozygous microdeletion was identified at 7p21.2p21.1 within the ISPD gene. Published data and our findings led us to the conclusion that a homozygous segmental intragenic deletion of the ISPD gene causes the most severe phenotype of Walker-Warburg syndrome. Our results also clearly supports the use of chromosomal microarray analysis as a first-line diagnostic test in patients with a foetus with one or more major structural abnormalities identified on ultrasonographic examination.
Ultrasound in Obstetrics & Gynecology, 2011
Conclusions: CO performed ≤ 18 weeks were associated with a higher rate of complications but with... more Conclusions: CO performed ≤ 18 weeks were associated with a higher rate of complications but with a similar survival rate and a trend for a lower rate of preterm birth < 32 weeks and higher birthweight which should be confirmed in larger series.
Biomarkers in medicine, 2014
A-FABP is a promising link between metabolic syndrome and atherosclerosis. It is not well known w... more A-FABP is a promising link between metabolic syndrome and atherosclerosis. It is not well known whether level of A-FABP predicts results of SPECT. In 82 subjects (53 males) with a median age of 54 years, who were first-degree relatives of patients with cardiovascular disease, the following tests and examinations were performed: A-FABP, calcium score (CS) and SPECT. Subjects with positive and negative SPECT results differed significantly in the noncategorized CS (p = 0.001), uric acid (p = 0.025) and the total cholesterol:high-density lipoprotein ratio (p = 0.043), but not in other parameters (including A-FABP). To predict SPECT results, the best model proved to be a logistic regression model with gender and noncategorized CS as predictors, with an area under the receiver operating characteristic curve of 0.89 (the sensitivity and specificity based on a CS cutoff of 11.1 were 77.78 and 75.34%, respectively). The serum level of A-FABP is not a predictor of a positive SPECT result.
Ultrasound in Obstetrics & Gynecology, 2014
Electronic poster abstracts stored ultrasound images were blinded evaluated by an expert operator... more Electronic poster abstracts stored ultrasound images were blinded evaluated by an expert operator and results were compared. Results: 254 women were performed. 265 fetuses were examined (10 twin pregnancies). Average wg was 12,4 ± 0,4. Visualization of CRL, NT, NB , CC, AC, Upper and Lower Bones, falx cerebri, thalamus, lens, jaw, bone palate, stomach, lungs, upper and lower limb bones, bladder, umbilical arteries, cardiac four chambers (4Cw) and great vessels sections (3Vw) was above 98%(confirmed by expert operators). Discordant % of visualization was found for iNT (95 vs 90), Cerebellum (88%vs72%) brain stem (97%vs88%) Lens (100%vs95%) Diaphragm (99%vs92%) Thymus (14%vs11%). Kidneys (99%vs95%) renal arteries (92%vs55%) TR (96%vs90%) aortic arch (96%vs79%) DV (97%vs88%). Complete concordance between normal and abnormal evaluation was assessed. Conclusions: Ultrasound screening for fetal malformations at 11-13 + 6 wg is feasible even if performed after a brief training. Pitfalls in the visualization of kidneys, ductus venosus flow ant tricuspid regurgitation are frequent.
Vnitr̆ní lékar̆ství
Leptin is protein produced by mature adipocytes into the system circulation and gives information... more Leptin is protein produced by mature adipocytes into the system circulation and gives information to hypothalamic centers about fat amount in the organism. Leptin is supposed to play a causal role in energy output of the organism and influences the appetite (antiobese effect). Obese individuals were proved to have frequently hyperleptinemia. This disease is caused by a postreceptor disorder (however, several obese families had also normoleptinemia or even hypoleptinemia which is caused by polymorphism of Ob-gene). It was also found that leptin administration in animals leads to reduced appetite and decreased body weight. Interpretation of leptinemia in human is very complicated because leptinemia is influenced by many independent regulations (hormones, stress, food intake, motor activity atc.). Obesity is often associated with hyperinsulinemia and insulin resistance (a frequent cause of human mortality) so that correlations between insulin and leptin are intensively studied. Experimental models and animal studies revealed the existence of adipoinsular axis and it was found that insulin and leptin are contrahormones. In human studies, the majority of authors did not find correlation between leptinemia and markers of insulin secretion. Similar conclusions were drawn out in our previous paper [118]. This may be due to complex regulations of leptinemia in the organism and the use of biochemical markers with limited validity (insulin, C-peptide in fasting state and after stimulation). Therefore we decided to study correlation between leptinemia and intact proinsulin in the serum which is now considered to be the most valid marker of insulin secretion and provides information about an average "daily" insulinemia. This study was stimulated by the fact that increased leptinemia is found also in persons with prolonged hyperinsulinemia (a short-term hyperinsulinemia does not affect leptin concentration so that no available marker of insulin secretion is valid). We examined the group of 31 probands, patients of the Metabolic and Diabetologic Center at the hospital in Sternberk. They were diabetic patients of type 2 who were treated by peroral antidiabetics and insulin and who met criteria of good compensation. However, no correlation between leptinemia and proinsulinemia was found. We suppose that this failure was due to complicated fine regulations affecting leptinemia and also to the fact that intact proinsulin is not an "ideal" marker of a long-term hyperinsulinemia (correlation between insulin and leptin at euglycemic clamp indicates that there exist correlation between these parameters in human).
Vnitr̆ní lékar̆ství
Obesity is a disease with distinct genetic determination and its phenotype is defined by the stil... more Obesity is a disease with distinct genetic determination and its phenotype is defined by the still unknown number of genes whose expression can be influenced by environmental factors. Several years ago, "obesity gene" was isolated in animals. This gene, coding protein which consists of 165 amino acids, is called leptin. Leptin is supposed to be a key substance controlling homeostasis of body weight and energy balance; it is produced by adipocytes and its value correlates highly significantly with anthropometric parameters that characterize physical constitution and amount of subcutaneous fatty tissue. The obese individuals often display hyperleptinemia which is frequently caused by a postreceptor disorder; sporadically, a different leptin structure or hypoleptinemia (caused by genetic anomaly) are reported. It is supposed that either absolute or relative leptin deficiency in obese persons are associated with causal obesity (e.g. appetite stimulation). Leptinemia values correlate with percentage of subcutaneous fatty tissue, insulinemia and sometimes with glycemia. In our study we examined 200 probands, patients of the Metabolic and Diabetologic Out-Patient Department, Hospital in Sternberk. A very close correlation between the amount of subcutaneous fatty tissue (measured by a caliper in 10 skinfolds) and the leptine serum concentration was found. The values of leptinemia in men of normal constitution ranged within 1-11 ng/ml, non-obese women had 3-4 times higher values. Leptinemia in some obese individuals reached up to 70 ng/ml. However, the currently calculated and reported parameters of physical constitution (BMI, WHR, Grant index) did not correlate significantly with leptinemia. Similarly, biochemical parameters considered as general markers of insulin resistance (often associated with obesity) did not correlate significantly with leptinemia. This finding indicates that some calculated parameters, quantifying and gualifying physical constitution, may be ambiguous and leptinemia was found to give more detailed information about the amount of subcutaneous fatty tissue than WHR or BMI. An accidental finding was an important positive correlation between myoglobin concentration and creatinemia. At monitoring the effect of hypolipidemic agents we use the myoglobin examination and therefore we consider this correlation to be very important and every physician performing this analysis should be informed about it. The present study thus confirmed that a more accurate quantification of subcutaneous fatty tissue is required. On the other hand, we believe that examination of leptinemia can contribute significantly to stratification of patients into risk groups (with respect to clinical, economic and time differentiation) and subsequently to the treatment of these patients. In future, criteria for quantification of leptinemia and leptine resistance should be defined precisely.
Vnitr̆ní lékar̆ství
Hyperleptinemia is considered to be one of predictors of early atherosklerosis complications. Thi... more Hyperleptinemia is considered to be one of predictors of early atherosklerosis complications. This stimulated us to investigate differences between leptinemia in persons with accelerated atherosclerosis and leptinemia in probands without atherosclerosis complications. The study also verified whether leptinemia and its relationship to other anthropometric and biochemical parameters can differ in hypolipemic-treated probands and hypolipemic-untreated individuals. We examined 89 probands with accelerated atherosclerosis. The controls were 20 persons without any signs of accelerated atherosclerosis. Probands with accelerated atherosclerosis had a slight hyperglycemia and were slightly obese, but they did not meet criteria of metabolic cardiovascular syndrome. No significant differences between both groups under study were found in terms of anthropometric and biochemical parameters (BMI, % body fat, glycemia, insulin, C-peptide, intact proinsulin, total proinsulin cholesterol, HDL, triglycerides, LDL, homeostatic model of insulin secretion and resistance). Leptin concentration was not different as well. Stratification into males and females showed that women had a significantly higher leptinemia and fat tissue mass. Other biochemical parameters were similar in both groups. We suppose that in individuals without signs of metabolic syndrome, leptinemia does not belong among predictors of accelerated atherosclerosis. The accelerated atherosclerosis persons were then divided into subgroups according to medication (28 probands--pravastatin Lipostat 20, 15 probands--phenofibrate Lipanthyl 200M, 9 probands--simvastatin Zocor 20, 47 probands--no hypolipemic medication). No significant differences between the groups were found in terms of the analysed anthropometric and biochemical parameters, except leptinemia. The pravastatin-medicated probands had a significantly lower leptinemia (significant at 99% significance level) which was evidently sex-related than other patients. The pravastatin-administered persons showed no correlation between leptinemia and body fat mass (in contrast to other groups where such a correlation was highly statistically significant). These findings can be explained by a still unclear effect of pravastatin on insulin metabolism and on other factors involved in leptin synthesis and elimination. Thus, a new therapeutic effect of pravastatin can be supposed. This may account for a highly favourable effect of pravastatin on reduced manifestations of atherosclerosis complications event at a low LDL cholesterol decrease (particularly in persons with metabolic cardiovascular syndrome).
Acta Universitatis Palackianae Olomucensis Facultatis Medicae
Vnitr̆ní lékar̆ství
The purpose of the study was to verify whether the currently reported relationship between leptin... more The purpose of the study was to verify whether the currently reported relationship between leptinemia and adipose tissue mass can be applied to cases of acute coronary attack. An increased number of cytokines has been reported in severe acute myocardial infarctions so that correlation between cytokines and leptin was investigated. Correlation between standard coronary markers and leptinemia was also studied. We examined 48 probands, patients of the Coronary Unit, Hospital, Sternberk, who were hospitalized for acute myocardial infarction (AMI--16 probands) or for unstable angina pectoris (UAP--22 probands). The persons with AMI had leptinemia and a higher concentration of interleukine-6 (Il-6) and of cardial troponine-I (cTn-I) than individuals without coronary accident (UAP). Early after the acute coronary lesion, leptinemia in persons with AMI displayed a statistically significant positive correlation with concentration of interleukine-6 and subsequently of markers of coronary lesion severity (cTnI). No correlation between leptinemia and body weight was found in those probands. This study proved that leptinemia in the AMI individuals is influenced directly by concentration of cytokines which leads to leptin superproduction by fat cells and leptin resistance.
Vnitr̆ní lékar̆ství
Leptin is a small protein produced mainly by adipocytes. Recently, its relationship to obesity ha... more Leptin is a small protein produced mainly by adipocytes. Recently, its relationship to obesity has been studied extensively. It was proved that obese individuals have either relative or absolute leptin deficiency. Several years ago, leptin was found to be produced also by the placenta. This stimulated us to study relationship between leptinemia and placental hormones in 85 women in the second gravidity trimester. Within the prenatal screening, these pregnant women were subjected to analysis of AFP, hCG, SP-1 glycoprotein and leptin and the results obtained were processed statistically. The control group consisted of 20 nonpregnant women with tetany. Women in the second gravidity trimester were found to have a significantly higher leptinemia than nongravid women (even with respect to body weight). This may be due to a larger amount of adipose tissue during gravidity and also leptin-resistance. Moreover, we recorded a negative correlation between leptinemia related to body weight and concentration of SP-1 glycoprotein. This finding supports the presumption that mother's leptinemia correlated negatively in the second gravidity trimester with quality and quantity of the placental syncytiotrophoblast. Our findings can be explained as follows: the biological effect of leptin is metabolically unfavourable for the growth of the foetus and the placenta. An increased leptinemia with advancing gravidity can be caused by a larger fatty mass and an increased activity of adipocytes when leptin presence increases in system circulation but the organism begins to be leptin-resistant and an "unfavourable" metabolic effect fort the gravid woman and the foetus is not distinct. These findings thus support the hypothesis postulating the nonsignificance of leptin production in human placenta and on the contrary the necessity of leptin-resistance for foetus development from the metabolic point of view. Thus, a decreased leptinemia immediately before and after the delivery could be caused by the still unclear regulators of leptin sensitivity. This is again a metabolically highly favourable state (reduced appetite, decreased body weight, increased energy output and others).
Vnitr̆ní lékar̆ství
During the last decade several papers were published where obesity in included among the building... more During the last decade several papers were published where obesity in included among the building stones of the so-called metabolic cardiovascular syndrome (along with hypertension, dyslipidaemia, impaired glucose tolerance and hyperinsulinaemia). Several months ago it was also revealed that some patients with the metabolic syndrome suffer from hyperleptinaemia. Leptinaemia is considered by some authors as independent indicator of the risk of accelerated atherosclerosis. The cause of these hypothesis were (in addition to the known conclusions on the occurrence frequent incidence of leptin resistance and insulin resistance) in particular the results of experimental studies where evidence was provided that infusion induced hyperleptinaemia leads in animals to hypertension due to its direct effect on sympathicotonia and peripheral vascular resistance. The authors of these hypothesis assume that hyperleptinaemia (in particular in subjects with metabolic syndrome) in one of the basic causes of hypertension which is frequently encountered in these patients. To assess the relations between leptinaemia and the blood pressure reading (actual and mean values) and leptinaemia and the classification of hypertension according to WHO. The authors examined 35 hypertensive subject and 10 subject with tetanies (without hypertension). The blood pressure was assessed under standard conditions (rest, semi-recumbent position, three readings). The mean blood pressure readings during the last three months were obtained from case records. Leptin was assessed by the ELISA method of Bio Vendor Co. The group of hypertonic can be classified as subjects with mild obesity (BMI 30.1). The values of leptin were elevated but did not differ significantly from those of the normal population. No correlations were found between leptinaemia (incl. values calculated for BMI) and the actual and mean blood pressure readings. No correlations were found between leptinaemia (incl. BP calculated with regard to BMI) and the stage of hypertension according to WHO. Hypertonic subject do not differ significantly as to the serum leptin concentration from the general population. Leptinaemia does not correlate with the actual or mean blood pressure reading nor with stage of hypertension according to the WHO classification. Thus the authors did not confirm the hypothesis on the fundamental effect of leptinaemia on the genesis and development of hypertension. It is probable that leptin is only one of the many factors which have an impact on blood pressure.
Vnitr̆ní lékar̆ství
According to contemporary estimates diabetes is present in 120 million subjects. This disease is ... more According to contemporary estimates diabetes is present in 120 million subjects. This disease is associated with the incidence of a number of very serious organ complications and very frequently is diagnosed late (several years after its development). Because despite increased diagnostic and therapeutic efforts the number of diabetic patients is increasing, new diagnostic and therapeutic means are sought. Evidence was provided that some complications of diabetes develop not only in case of poor compensation but also in hyperinsulinaemia (hypertension, ischaemic heart and coronary artery disease etc.). In clinical practice it is however possible to assess hyperinsulinaemia or incipient insulin resistance only with difficulty because classical examinations (insulin and C-peptide on fasting) have a very low specificity and sensitivity. Therefore for estimation of insulin resistance loading tests are used (e.g. examination of insulin after stimulation with glucose, or C-peptide after stimulation with glucagon, insulin tolerance and suppression tests, or in research projects so-called minimal models or clamp techniques). Any loading test is however demanding from the aspect of time, money, technical aspects and staff and therefore possibilities are sought how to estimate the degree of insulin resistance and sensitivity in a specimen of biological material under basal conditions. OBJECTIVE OF INVESTIGATION: Because in the literature only sporadically assessment of intact proinsulin is mentioned as the ideal marker of insulin resistance under basal conditions, the authors decided to assess the relations between intact proinsulin (PI) and other biochemical parameters in patients with type 2 diabetes and dyslipidaemia (200 probands) and to assess whether PI correlates with the results of loading tests (modified oGTT with calculation of the sum and delta-insulin--120 probands). It was revealed that PI (contrary to insulin, C-peptide and total proinsulin) correlates with the results of the loading test characterizing insulin resistance (sum and delta insulin, correlation coefficient 0.84) (n=120 subjects). It was furthermore found that probands (n=200 subjects) who are followed up on account of type 2 diabetes or dyslipidaemia (or both) differ from the control group (n=20 subjects) as regards biochemical parameters only in the PI concentration (dispensarized patients have higher levels, p>0.99), whereby in other standard basal characteristics of insulin secretion and resistance the groups did not differ. The differences were correlated with HOMA models of insulin secretion and resistance and no correlations were found. The PI concentration in this group correlated significantly with the cholesterol, fibrinogen and triacylglycerol concentration. No relations were found between the values of intact proinsulin with C-peptide and insulin. Based on the results of their study the authors assume that examination of intact proinsulin is a valid "basal" indicator of insulin resistance. From the results ensues also that intact proinsulin is probably a very good predictor as regards the risk of development of cardiovascular disease.
Vnitr̆ní lékar̆ství
Leptin is a protein, determined by the ob-gene which influences in a fundamental way the energy m... more Leptin is a protein, determined by the ob-gene which influences in a fundamental way the energy metabolism of the organism. A significant effect of leptin on the haematopoietic, immunological and endocrinological system cannot be ruled out nor its effect on the course of pregnancy and maturation of the organism. In humans leptinaemia correlates with the amount of subcutaneous fat which is due to a receptor or post-receptor disorder, obese subjects suffer frequently from hyperleptinaemia. To assess the mean leptinaemia of the general population, seek relations between leptinaemia and anthropological indicators and age. Using the method of random sampling the authors examined a group of 538 probands (252 males, 286 females) incl. 12% healthy students of the Faculty of Physical Culture in Olomouc, 37% subjects without acute or chronic complications feeling in good health and 37% patients of the metabolic and diabetological ambulance of the hospital in Sternberk. In each patient a detailed case-history was recorded, an anthropological examination was made and a venous blood sample was taken for leptin analysis (serum, ELISA-sandwich method of BIOVENDOR Co.) Spectrum of patients, whose condition and age distribution in our group corresponded to the general population of the Czech Republic. The mean age of the probands was 51 years (18 to 82 years), the examined group can be characterized as subjects lacking signs of obesity. Leptinaemia was on average about 10 ng/ml (minimum 0, maximum 97.9 ng/ml), whereby men had values round 6 and women round 14 ng/ml (women had also a greater adipose tissue mass). Non-obese subjects (BMI<26) had a mean leptinaemia of 5 (women cca 6, men cca 2 ng/ml), obese subjects (BMI>30) have a leptinaemia of cca 19 ng/ml (women about 26, men about 13 ng/ml). With advancing age the leptinaemia in adults rises up to the age of 70, in subjects above 70 years it does not change (in women it declines significantly). The dynamics of leptinaemia imitate the changes of BMI and percentage of adipose tissue (in men also a rise in WHR). Leptinaemia is associated with the BMI (correlation coefficient 0.55), with the percentage of body fat (correlation coefficient 0.75), and in men with the WHR (correlation coefficient 0.82). The association between ageand leptinaemia is only indicated (correlation coefficient 0.29) and is not very close. According to the authors results subcutaneous body fat is responsible for cca 60% of the variability of leptinaemia (in women as much as 74%), BMI for 23%, age and sex for cca 9% of the vriability of leptinaemia. In men the WHR is responsible for 66% of the variability of leptinaemia. With an increase of subcutaneous adipose tissue by 1% the leptinaemia increases by some 0.54 ng/ml (in men by 0.22 ng/ml, in women by 0.84 ng/ml), with increasing BMI leptinaemia rises by 0.44 ng/ml/u (in men by 1.3 ng/ml, in women by 1.72 ng/ml), with advancing age leptin rises by 0.24 ng/ml/year (in men by 0.16 ng/ml, in women by 0.28 ng/ml), changes of leptinaemia imitate changes of BMI and the percentage of body fat. With increasing WHR in men the leptinaemia rises by 2.6 ng/ml/0.1 WHR. Standards of leptinaemia for the general population of the Czech Republic were elaborated. Leptinaemia correlates most closely of all anthropometric indicators with subcutaneous fat and in men with the WHR index. With advancing age between 20 and 70 years leptunaemia rises and then decliunes insignificantly (in women the changes are however significant). The primary cause of the mentioned differencesare probably changes of the bodily constitution.
Casopís lékar̆ů c̆eských
Adiponectin is a fat tissue protein that plays a role in maintaining the homeostasis of glucose a... more Adiponectin is a fat tissue protein that plays a role in maintaining the homeostasis of glucose and lipids, along with counteracting a number of risk factors associated with atherosclerosis and obesity. In addition, adiponectin has an effect on insulin sensitivity. The aim of this work was to assess concentrations of adiponectin in predefined groups of individuals and to analyse the associations between adiponectin and other metabolic parameters. The studied population comprised four groups of individuals, A-D. A--healthy controls, B--patients with impaired lipid metabolism, C--the obese, and D--patients with metabolic syndrome. When comparing the levels of adiponectin in groups of patients with impaired lipid metabolism (B), the obese (C), and patients with metabolic syndrome (D) with healthy controls (A), no statistically significant difference was observed between groups B and C and healthy individuals. In contrast, statistically significant difference was found when concentrations of adiponectin in patients with metabolic syndrome (D) were compared to those in healthy controls. Individuals with metabolic syndrome had the lowest levels of adiponectin - 5.3 mg/1 (men) and 5.6 mg/1 (women). The correlation coefficient for the association between adiponectin and HDL was R=0.57, for adiponectin and triglycerides R=-0.46, for adiponectin and BMI R=-0.37, for adiponectin and glycemia R=-0.34, for adiponectin and insulinemia R=-0.39, and for adiponectin and the QUICKI index R=0.44. One possible method of the complex evaluation of the metabolic syndrome development and its metabolic consequences is the assessment of adiponectin levels. Low levels of adiponectin indicate the development of insulin resistance.
Clinical Autonomic Research, 2015
An association between the CSF chromogranin A (CgA) and orthostatic blood pressure changes was in... more An association between the CSF chromogranin A (CgA) and orthostatic blood pressure changes was investigated in 20 patients in the early stage of Parkinson disease (PD). There was a positive correlation between the CSF CgA and diastolic blood pressure change, when CSF CgA levels were lower in patients with orthostatic hypotension (OH). Decreased CSF CgA may be useful in predicting OH in the early stage of PD.
Ceskoslovenská gynekologie
Ceska gynekologie / Ceska lekarska spolecnost J. Ev. Purkyne
Analysis of data from prenatal cytogenetic studies performed during 10 years. Retrospective analy... more Analysis of data from prenatal cytogenetic studies performed during 10 years. Retrospective analysis of cytogenetic results. Cytogenetic laboratory, Department of Clinical Genetics GENNET, Prague. Cytogenetic analysis of cultivated amniotic cells. 180 chromosomal pathologies, including 110 numerical and 70 structural, were diagnosed in 5743 samples of amniotic fluid. Relatively high number of structural aberrations was found also in groups of patients examined because of increased maternal age, abnormal values of biochemical markers and abnormal ultrasound findings. Chromosomal abnormalities in individual groups of patients, risk figures for de novo balanced structural aberrations, additional marker chromosomes and some mosaic findings as the management following the prenatal diagnosis of this abnormalities are discussed. On the basis of the great number of familiar structural aberrations in our material is recommended to pay attention to the detection of such anomalies also in groups of patients where numerical chromosomal changes are namely expected.
Sbornik lekarsky
Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cor... more Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cordocentesis FBS) have been used in Perinatal Centre of Central Bohemia. The chromosomal abnormalities in a group of 3,098 patients have been detected in 1.4% of fetuses. The inherited disorders were diagnosed using DNA analysis and biochemical examination of amniotic fluid. X-linked diseases in a group of 68 patients in 30.8% of fetuses have been diagnosed and inborn error of metabolism in a group of 29 indicated patients in 17.2% of fetuses were diagnosed. The incidence of fetal losses before 28th week of gestation was 0.4%.
Ceska gynekologie / Ceska lekarska spolecnost J. Ev. Purkyne
Objective: Informative review of possible causes and therapy of habitual pregnancy loss and infer... more Objective: Informative review of possible causes and therapy of habitual pregnancy loss and infertility. Design: Review. Settings: Department of Gynecology and Obstetrics, General Faculty Hospital of Charles University, Prague. Subject and method: The repeated (habitual) loss of pregnancy is defined by three or more spontaneous abortions. Approximately 0,4 to 1% of women are affected. The pregnancy loss is more frequent in women younger than 20 and older than 35 years. The frequency of spontaneous abortions parallels the number of previous pregnancies. The causative treatment of women with recurring abortions is not available, however, it is recommended that such women are evaluated by available methods to eliminate etiological causes of repeated pregnancy losses. Conlusions: Effective therapy is possible when the diagnostic reason for repeated abortions is determined. Nevertheless, the causes leading to repeated pregnancy losses are identified only in approximately 12% of women. Ho...
European Journal of Medical Genetics, 2015
Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystroph... more Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD gene. Typical WWS brain anomalies, such as cobblestone lissencephaly, hydrocephalus and cerebellar malformations, can be prenatally detected through routine ultrasound examinations. Here, we report two karyotypically normal foetuses with multiple brain anomalies that corresponded to WWS symptoms. Using a SNP-array examination on the amniotic fluid DNA, a homozygous microdeletion was identified at 7p21.2p21.1 within the ISPD gene. Published data and our findings led us to the conclusion that a homozygous segmental intragenic deletion of the ISPD gene causes the most severe phenotype of Walker-Warburg syndrome. Our results also clearly supports the use of chromosomal microarray analysis as a first-line diagnostic test in patients with a foetus with one or more major structural abnormalities identified on ultrasonographic examination.
Ultrasound in Obstetrics & Gynecology, 2011
Conclusions: CO performed ≤ 18 weeks were associated with a higher rate of complications but with... more Conclusions: CO performed ≤ 18 weeks were associated with a higher rate of complications but with a similar survival rate and a trend for a lower rate of preterm birth < 32 weeks and higher birthweight which should be confirmed in larger series.
Biomarkers in medicine, 2014
A-FABP is a promising link between metabolic syndrome and atherosclerosis. It is not well known w... more A-FABP is a promising link between metabolic syndrome and atherosclerosis. It is not well known whether level of A-FABP predicts results of SPECT. In 82 subjects (53 males) with a median age of 54 years, who were first-degree relatives of patients with cardiovascular disease, the following tests and examinations were performed: A-FABP, calcium score (CS) and SPECT. Subjects with positive and negative SPECT results differed significantly in the noncategorized CS (p = 0.001), uric acid (p = 0.025) and the total cholesterol:high-density lipoprotein ratio (p = 0.043), but not in other parameters (including A-FABP). To predict SPECT results, the best model proved to be a logistic regression model with gender and noncategorized CS as predictors, with an area under the receiver operating characteristic curve of 0.89 (the sensitivity and specificity based on a CS cutoff of 11.1 were 77.78 and 75.34%, respectively). The serum level of A-FABP is not a predictor of a positive SPECT result.