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Zoltán Papp

Publications and source records attributed to Zoltán Papp.

At least 19 recordsLinked to original sources
PubMed2007

Correlation of prenatal sonographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21.

OBJECTIVE: The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21. METHODS: Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal autopsy were compared by organ system, and their correlation was assigned to 1 of 3 categories. RESULTS: In total, 83.1% of the 184 fetuses that constituted the final study group had 1 or more abnormal structural findings at postabortion pathologic examination, whereas in 16.9% of the cases, fetal pathologic examination did not reveal any defects in fetal anatomy. Among major structural defects, the agreement between sonographic and autopsy findings was greater than 60% of all abnormalities of these systems: central nervous system (65.4%), heart (67.4%), fetal hydrops (100%), and cystic hygroma (93.3%), whereas the concordance rate was lower in these organ systems: abdominal abnormalities (46.2%), renal anomalies (50%), facial abnormalities (1.2%), and extremities (4.4%). The rate of additional major findings at autopsy was 34.2%. These mainly involved 3 organ systems: heart, head, and abdominal anomalies. Some sonographic findings (n = 16) were not verified at autopsy. The concordances between sonographic and autopsy findings regarding soft markers were considerably high in these markers: increased nuchal fold thickness (72%), short femur/humerus (75%), and pyelectasis (51.9%). CONCLUSIONS: Examining the correlation between sonography and pathologic findings may indicate possible directions of further development in sonographic screening for trisomy 21. In addition to obstetricians, pediatricians, and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations.

Abortion, Eugenic↗
PubMed2006

Rate of tension redevelopment is not modulated by sarcomere length in permeabilized human, murine, and porcine cardiomyocytes.

The increase in Ca(2+) sensitivity of isometric force development along with sarcomere length (SL) is considered as the basis of the Frank-Starling law of the heart, possibly involving the regulation of cross-bridge turnover kinetics. Therefore, the Ca(2+) dependencies of isometric force production and of the cross-bridge-sensitive rate constant of force redevelopment (k(tr)) were determined at different SLs (1.9 and 2.3 mum) in isolated human, murine, and porcine permeabilized cardiomyocytes. k(tr) was also determined in the presence of 10 mM inorganic phosphate (P(i)), which interfered with the force-generating cross-bridge transitions. The increases in Ca(2+) sensitivities of force with SL were very similar in human, murine, and porcine cardiomyocytes (DeltapCa(50): approximately 0.11). k(tr) was higher (P < 0.05) in mice than in humans or pigs at all Ca(2+) concentrations ([Ca(2+)]) [maximum k(tr) (k(tr,max)) at a SL of 1.9 mum and pCa 4.75: 1.33 +/- 0.11, 7.44 +/- 0.15, and 1.02 +/- 0.05 s(-1), in humans, mice, and pigs, respectively] but k(tr) did not depend on SL in any species. Moreover, when the k(tr) values for each species were expressed relative to their respective maxima, similar Ca(2+) dependencies were obtained. Ten millimolar P(i) decreased force to approximately 60-65% and left DeltapCa(50) unaltered in all three species. P(i) increased k(tr,max) by a factor of approximately 1.6 in humans and pigs and by a factor of approximately 3 in mice, independent of SL. In conclusion, species differences exert a major influence on k(tr), but SL does not appear to modulate the cross-bridge turnover rates in human, murine, and porcine hearts.

Adult↗
PubMed2006

[The role of ultrasonography in second trimester screening for fetal chromosome aberrations].

UNLABELLED: The role of ultrasound examination in second trimester screening for fetal aneuploidies. OBJECTIVE: Authors sought to determine the frequency of ultrasound findings in major chromosomal defects. They also tried to evaluate possible patterns of ultrasound signs of fetal chromosomal defects. METHODS: Through the time period of 15 years (1999-2004) 22,150 fetal karyotypings were done, and 514 abnormal karyotypes (2.3%, 514/22,150) were diagnosed prenatally. Congenital anomalies of these fetuses, detected by second trimester sonography, were analyzed in this study. RESULTS: Of the 514 chromosome aberrations, 207 fetuses with trisomy 21 (40.3%), 70 fetuses with trisomy 18 (13.6%), 28 fetuses with trisomy 13 (5.4%), 69 fetuses with Turner syndrome (13.4%) and 12 fetuses with triploidy (2.3%) were detected. The incidences of major structural defects and minor anomalies were evaluated then ultrasound signs with the highest incidences were established in each of the major chromosomal defects. CONCLUSION: This study may help to select the "optimal components" of the genetic sonogram that would assist the counseling of women for the risk of a chromosomal abnormality. Other advantages of such approach could be the standardization of the contents of ultrasound examination among different health care providers and institutions, and a decrease in false-positive rates.

Adult↗
PubMed2006

Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute.

This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, between July 1, 1990 and June 30, 2005. The observed period was analyzed in two parts. The pre- and postnatal examinations verified CDH in 100 cases, 71% of which were associated with other malformations. In 52% (37/71) CDH was diagnosed before the 24th week of gestation. The rate of early diagnosed cases doubled in the second period. Ten percent (7/71) of cases were verified postnatally. Between 1990 and 1997, the percentage of right-sided hernia was 6% (2/34) while in the second period it was 19% (7/37). The association with cardiovascular, chest, and craniofacial anomalies doubled in the second period, while association of central nervous system anomalies halved. Chromosome anomalies were verified in four cases. Pregnancy was terminated in 53% (34/64) and 13% (4/30) of newborn infants survived the perinatal period. Intrauterine or intrapartum death occurred in 8% (5/64) of cases. The prevalence of cardiovascular, pulmonary, and craniofacial anomalies doubled, while that of central nervous system malformations decreased. The prevalence of other associated malformations has not changed significantly between the two periods. The improvement of technical facilities and accumulated experience make it possible to identify a higher number of associated malformations before the 24th week of gestation.

Abnormalities, Multiple↗
PubMed2006

Quality control of prenatal sonography in detecting trisomy 18. The value of perinatal autopsy.

AIMS: This study was designed to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 18. STUDY DESIGN: Of 22,150 fetal chromosome analyses, 70 fetuses with trisomy 18 were diagnosed between 1990 and 2004. Sonographic and perinatal autopsy findings were compared by organ system and their correlation was assigned to 1 of 3 categories. RESULTS: There were 164 separate major structural abnormalities found on autopsy. Of them, sonography detected 72 (43.9%). Among major defects the agreement was more than 75% of all abnormalities of these systems: central nervous system (80%), abdominal abnormalities (87.5%) and cystic hygroma (100%). Whereas, the sensitivity of sonography was lower in these organ systems: cardiac system (66.6%), facial abnormalities (26.3%), urinary system (27.3%) and extremities (8.7%). The rate of additional findings at autopsy was 56.1% and involved mainly 2 organ systems: face (including ear) and extremities (including hands and feet). Some ultrasound findings (n=15) were not confirmed at autopsy in our series. CONCLUSIONS: This study confirms that perinatal autopsy provides additional information in many fetuses with trisomy 18. Besides obstetricians, pediatricians and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations. In addition, examining the correlation between sonography and pathologic findings may indicate potential markers for sonographic screening of trisomy 18.

Adolescent↗
PubMed2006

Factor V Leiden and apolipoprotein E genotypes in severe femoropopliteal atherosclerosis with restenosis.

BACKGROUND: The role of factor V (Leiden) mutation, thrombophilia, and apolipoprotein E (apoE) alleles in the pathogenesis of accelerated atherosclerosis and restenosis was studied in patients requiring reoperation within five years after femoropopliteal angioplasty with artificial grafts. METHODS: One hundred ninety-eight consecutive patients with femoropopliteal atherosclerotic disease, reoperated for restenosis were contacted by phone and 100 of them returned for laboratory and clinical work-up. In addition to clinical evaluation and routine laboratory investigations, parameters of lipoprotein metabolism, factor V (Leiden) mutation and apolipoprotein E (apoE) allele were studied by PCR amplification of DNA and endonuclease digestion techniques. RESULTS: A significantly higher incidence of factor V (Leiden) mutation was found in patients with atherosclerosis and restenosis, compared to 445 healthy blood donors (13/200, 6.5% vs. 34/890, 3.8%, p=0.0379). Distribution of the alleles of the apolipoprotein E (apoE) gene was different, when the patients were compared to 372 controls; however, the difference only approached the level of statistical significance (25/200, 12.5% vs. 56/744, 7.5%, p=0.0515). Comparing the two groups, the number of epsilon4 allele carriers was significantly higher among patients with restenosis (25/100, 25% vs. 53/272, 14%, p=0.0147). CONCLUSION: Factor V (Leiden) mutation may influence the progression of atherosclerosis and the development of restenosis after revascularization in patients with accelerated femoropopliteal atherosclerosis. Further investigation is needed whether long-term anticoagulation has an impact or not on the course of disease in such cases. ApoE epsilon4 allele should be screened in patients with femoropopliteal atherosclerosis, because it indicates a faster progression of atherosclerosis and may predict restenosis after revascularization procedure.

Adult↗
PubMed2006

Prenatal sonographic findings in 207 fetuses with trisomy 21.

OBJECTIVE: The objective was to evaluate the contribution of second trimester ultrasound examination to the prenatal diagnosis of trisomy 21 in 207 fetuses with this aneuploidy. The type and frequency of abnormal sonographic findings were determined. Possible multiple malformation patterns, characteristic of trisomy 21 were sought. STUDY DESIGN: Singleton fetuses that had prenatal sonography during the second trimester, then underwent cytogenetic evaluation in our institution, made up the study population. The sonographic findings of 207 fetuses with trisomy 21 were analyzed. RESULTS: Between 1990 and 2004, fetal karyotyping was performed in 22,150 patients for different indications. An abnormal karyotype was diagnosed in 514 cases (2.3%); among them 207 fetuses with trisomy 21 were detected (40.3%). Abnormal sonography was seen in 63.8% of the cases. Structural anomalies were detected in 28.5% of the trisomy 21 fetuses, among them cardiac defects (15.9%), central nervous system anomalies (14.5%), and cystic hygromas (6.8%) were the most common. Of the minor markers, increased nuchal translucency (28%), pyelectasis (20.3%), and shorter extremities (8.7%) were common findings. CONCLUSIONS: Appropriate diagnosis of structural anomalies, looking for relatively easily detectable minor markers and incorporating fetal echocardiography into the second trimester sonographic protocol, may increase the contribution of mid-trimester ultrasound examination to diagnosing trisomy 21.

Down Syndrome↗
PubMed2006

[Congenital absence of the ductus venosus associated with severe congenital heart malformation--case report and review of the literature].

Congenital absence of the ductus venosus is a rare anomaly. The authors have found 57 cases in the literature. Their case was associated with a complex congenital heart disease, what occurs only in 10% of absent ductus venosus cases. In cases, where the umbilical vein connects directly to the right atrium, the volume overloading causes dilatation of the right atrium and ventricle, development of polyhydramnios and fetal hydrops. The diagnosed an umbilical vein directly connected to the right atrium, extreme systemic congestion, but no hydrops. In some fetuses this condition did not result hydrops, because there is compensation by the rich compliance of intrahepatic vascular beds. This case is an illustration that mild sonographic signs such a transient bradycardia in the early second trimester could be a sign of a heart malformation and can draw attention of the sonographer to other associated severe congenital heart disease.

Female↗
PubMed2006

Use of routinely collected amniotic fluid for whole-genome expression analysis of polygenic disorders.

BACKGROUND: Neural tube defects related to polygenic disorders are the second most common birth defects in the world, but no molecular biologic tests are available to analyze the genes involved in the pathomechanism of these disorders. We explored the use of routinely collected amniotic fluid to characterize the differential gene expression profiles of polygenic disorders. METHODS: We used oligonucleotide microarrays to analyze amniotic fluid samples obtained from pregnant women carrying fetuses with neural tube defects diagnosed during ultrasound examination. The control samples were obtained from pregnant women who underwent routine genetic amniocentesis because of advanced maternal age (>35 years). We also investigated specific folate-related genes because maternal periconceptional folic acid supplementation has been found to have a protective effect with respect to neural tube defects. RESULTS: Fetal mRNA from amniocytes was successfully isolated, amplified, labeled, and hybridized to whole-genome transcript arrays. We detected differential gene expression profiles between cases and controls. Highlighted genes such as SLA, LST1, and BENE might be important in the development of neural tube defects. None of the specific folate-related genes were in the top 100 associated transcripts. CONCLUSIONS: This pilot study demonstrated that a routinely collected amount of amniotic fluid (as small as 6 mL) can provide sufficient RNA to successfully hybridize to expression arrays. Analysis of the differences in fetal gene expressions might help us decipher the complex genetic background of polygenic disorders.

Amniotic Fluid↗
PubMed2006

Detection of DeltaF508del using quantitative real-time PCR, comparison of the results obtained by fluorescent PCR.

OBJECTIVE: Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del. METHODS: One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. Fluorescent PCR with DNA fragment analysis and quantitative real-time PCR with melting curve analysis were performed on the DNA samples for the detection of DeltaF508del. RESULTS: Sixty-five healthy normal samples, 43 heterozygous samples, 6 DeltaF508del homozygous samples and 2 DeltaF508C homozygous samples were detected by using quantitative real-time PCR combined with melting curve analysis. The fluorescent PCR method did not detect the DeltaF508C mutation and these two samples were diagnosed as normal healthy ones. CONCLUSIONS: The quantitative real-time PCR with melting curve analysis is a reliable and fast method for the detection of DeltaF508del. The results are ready in 1 h following the DNA isolation. The applied primer-probe set with melting curve analysis gives additional information for the presence of other mutations in the DeltaF508del region.

Cystic Fibrosis↗
PubMed2006

Follow-up analysis of pregnancies complicated by HELLP syndrome.

AIM: In this study, we investigated the course of subsequent pregnancies in patients with HELLP syndrome and the development of chronic maternal diseases. RESULTS: The study population consisted of 50 patients who were treated for HELLP syndrome at 1(st) Department of Obstetrics and Gynecology, Semmelweis University between January 1, 1995 and December 31, 2004. There were 35 subsequent pregnancies in 25 patients. Of these there were seven miscarriages, one mid-trimester loss. The incidence of premature birth was 40.7%, and neonatal mortality 7.4%. Preeclampsia recurred in twelve pregnancies; it was mild in eight and severe in four cases. HELLP syndrome re-occurred four times in three patients (14.28%). Recurrent hypertension was observed in 24% of the pregnancies. CONCLUSIONS: Pregnancies after a previous pregnancy complicated by HELLP syndrome carry not only an increased chance for HELLP syndrome but also the development of other pathological obstetric conditions and chronic maternal diseases. Hypertension was found to be a maternal disease of increased incidence (24%) in subsequent pregnancies.

Adult↗
PubMed2006

[Fetal ischaemic brain injury in the second trimester of pregnancy].

Based on clinical, epidemiologic, and experimental studies, the aetiology of white matter damage, specially periventricular leukomalacia (PVL), is multifactorial and involves pre- and perinatal factors. Each of these factors is supposed to be a major precursor for neurological and intellectual impairment, and cerebral palsy (CP) in later life. Antenatal rather than intrapartum factors are now emerging as the major determinants of cerebral palsy. In this case report maternal trauma, benign tumour, severe anaemia and fetal cerebral vascular malformation are supposed as causative factors in intrauterine periventricular leukomalacia resulting from hypoxic-ischaemic injury.

Adult↗
PubMed2006

[Use of biochemical markers to predict the outcome of pregnancies conceived by in vitro fertilization].

BACKGROUND: Pregnancies obtained after in vitro fertilization and embryo transfer are at increased risk for an adverse outcome compared with women who conceive naturally. Multiple gestations also occur more frequently after in vitro fertilization. Therefore, there is a need for markers that accurately detect the establishment of pregnancy and predict its outcome as early as possible, allowing for modification of monitoring and treatment if required. Ultrasound examination is part of the routine follow-up after in vitro fertilization, but a gestational sac is not reliably visible until 33-37 days after ovulation induction. As a result, there is an ongoing effort to find endocrine markers that can earlier detect the establishment of pregnancy and forecast its outcome. OBJECTIVE: The authors' aim was to assess the predictive value of the following potential serum markers, measured in the second week after embryo transfer in samples collected prospectively during the past ten years at the Division of Assisted Reproduction of their department: total beta-hCG (theoretical post-embryo transfer day 11 values, calculated from levels in two samples collected with a difference of two days, based on the mathematical model describing its exponential increase in early pregnancy), inhibin A, and CA-125. METHODS: Data of patients undergoing IVF or intracytoplasmic sperm injection and embryo transfer between 1995 and 2001 were analyzed. Establishment of pregnancy was assessed by measuring total beta-hCG concentrations in two serum samples collected between 8 and 16 days after ET with a difference of two days. Measurement of inhibin A and CA-125 levels was performed in the same samples. Logistic regression analyses were used to study the association of these serum markers and the number of retrieved oocytes and transferred embryos with pregnancy outcome. Receiver-operating characteristic (ROC) curves were constructed to identify optimal cutoff levels for outcomes and to assess overall predictive accuracy. RESULTS AND CONCLUSIONS: (1) Day 11 total beta-hCG can be used to compare hCG levels in samples from different sampling days and to predict early pregnancy losses and multiple ongoing pregnancies with high sensitivity and specificity. (2) Inhibin A concentrations are more accurate than day 11 hCG levels for predicting preclinical abortion after IVF but they have no advantage in forecasting ongoing or multiple ongoing pregnancies. (3) Prognostic accuracy of CA-125 measurements for the prediction of pregnancy as well as its outcome is inferior to that achieved with inhibin A.

Abortion, Spontaneous↗
PubMed2006

[The rate of maternal complications in 107 pregnancies complicated with HELLP syndrome].

INTRODUCTION: HELLP syndrome (Haemolysis, Elevated Liver enzymes, Low platelet count) is a grave, life threatening form of preeclampsia, which was named by Weinstein in 1982, on the basis of characteristic changes in laboratory findings (haemolysis, elevated level of liver enzymes and thrombocytopenia). OBJECTIVE OF THE STUDY: To assess the rate of maternal complications in HELLP syndrome. MATERIAL AND METHODS: In the past ten years, 107 patients were treated for HELLP syndrome at the Intensive Care Unit (ICU) of the 1st Department of Obstetrics and Gynaecology, Semmelweis University. The authors summed up about their experience with the treatment of patients, with special regard to the typical symptoms of HELLP syndrome, the course of the disease, postpartum maternal complications. RESULTS: The frequency of HELLP syndrome in live births was found to be 0.37%. In 96% of the patients the pregnancy was terminated via Caesarean section. Pulmonary oedema was the most common cardiopulmonary complication (11%) and developed in Mississippi Group I in the majority of the cases (21%). Transfusions had to be given quite frequently; 62% of the patients in the study were transfused using erythrocyte preparations. In persistent or progressive cases in the postpartum period, the elimination (uterine curettage and lavage) of factors responsible for the persistence of the disease (toxic and vasoactive agents in the endometrium) resulted in the recovery of one third of the patients. Maternal thromboembolic complications developed in 11% of the patients, each of them was affected in Mississippi Group I, with the lowest platelet count. CONCLUSIONS: The immediate termination of a pregnancy in which HELLP syndrome emerges may save the patient's life. It is recommended to try and lift foci applying uterine curettage and lavage as the first step, if the mothers' condition persists or progresses after delivery. Its development is accompanied by a significant increase in maternal and fetal morbidity and mortality alike, therefore it is essential for the obstetricians to be familiar with the disease.

Adult↗
PubMed2006

[Changes in the perinatal management of congenital diaphragmatic hernia in the last 15 years' experience of our institute].

AIM: Review of perinatally diagnosed congenital diaphragmatic hernia cases with regard to time of diagnosis, side of hernia, mode of delivery, organs herniated into the thorax, main group of associated malformations and the outcome. MATERIAL AND METHOD: The authors analysed the data of 104 cases from records of I. Department of Obstetrics and Gynecology Semmelweis University Budapest between July 1, 1990 and June 30, 2005. The observed period was analysed in two parts. RESULTS: Prenatal ultrasound was performed in 93 cases. In 6 cases (6.5%) the prenatally diagnosed congenital diaphragmatic hernia postnatally proved to be a different non-cardiac thoracic malformation. 50.4% of the pre- and postnatally verified 87 congenital diaphragmatic hernia cases were diagnosed before the 24th week of gestation. 11 hernias were identified postnatally. From the diagnosed 98 cases 69 (70.4%) occurred as a part of multiple anomalies. The hernia was left-sided in 86.7%, and both-sided in 4 cases. In 1990-1997, the percentage of right-sided hernia was 4% while in the second period it was 13%. Delivery was performed in 51 cases, with prenatal diagnosis in 40 cases. From the 51 newborns 14 were alive, thus the survival rate was 27.5%. The survival rate of the newborns delivered by cesarean section was three times higher than that of the vaginally delivered ones. There was termination in 38 cases, 6 of which were isolated malformation. Intrauterine or subpartu death occurred in 5 cases. We have no data about the outcome of the pregnancy in four cases. The liver, spleen and stomach thoracic herniation was twice as high in the second period as it was in the first period, but their correlation did not change. CONCLUSION: According to the analysis of the 15 years' data the herniated organs, the multiplex malformations as well as the mode of delivery influence the survival in a large number of cases. Early diagnosis portends a large hernia, a higher malformation rate, and the worse prognosis.

Abnormalities, Multiple↗
PubMed2006

High-fat diet-induced reduction in nitric oxide-dependent arteriolar dilation in rats: role of xanthine oxidase-derived superoxide anion.

Obesity frequently leads to the development of hypertension. We hypothesized that high-fat diet (HFD)-induced obesity impairs the endothelium-dependent dilation of arterioles. Male Wistar rats were fed with normal (control) or HFD (60% of saturated fat, for 10 wk). In rats with HFD, body weight, mean arterial blood pressure, and serum insulin, cholesterol, and glucose were elevated. In isolated gracilis muscle arterioles (diameter: approximately 160 microm) of HFD, rat dilations to ACh (at 1 microM, maximum: 83 +/- 3%) and histamine (at 10 microM, maximum: 16 +/- 4%) were significantly (P < 0.05) decreased compared with those of control responses (maximum: 90 +/- 2 and 46 +/- 4%, respectively). Dilations to the NO donor sodium nitroprusside were similar in the two groups. Inhibition of NO synthesis by N(omega)-nitro-l-arginine methyl ester reduced ACh- and histamine-induced dilations in control arterioles but had no effect on microvessels of HFD rats. The superoxide dismutase mimetic Tiron or xanthine oxidase inhibitor allopurinol enhanced ACh (maximum: 90 +/- 2 and 93 +/- 2%, respectively)- and histamine (maximum: 30 +/- 7 and 37 +/- 8%, respectively)-induced dilations in HFD arterioles, whereas the NAD(P)H oxidase inhibitor apocynin had no significant effect. Correspondingly, in carotid arteries of HFD rats, an enhanced superoxide production was shown by lucigenin-enhanced chemiluminescence, in association with an increased xanthine oxidase, but not NAD(P)H oxidase activity. In addition, a marked xanthine oxidase immunostaining was detected in the endothelial layer of the gracilis arterioles of HFD, but not in control rats. These findings suggest that, in obese rats, NO mediation of endothelium-dependent dilation of skeletal muscle arterioles is reduced because of an enhanced xanthine oxidase-derived superoxide production. These alterations demonstrate substantial dysregulation of arteriolar tone by the endothelium in HFD-induced obesity, which may contribute to disturbed tissue blood flow and development of increased peripheral resistance.

Acetylcholine↗
PubMed2006

[Detection of deltaF508 deletion causing cystic fibrosis, using quantitative real-time PCR].

INTRODUCTION: Cystic fibrosis is the most common autosomal recessive lethal genetic disorder in the Caucasian population. There are about 1400 mutation in the cystic fibrosis transmembrane regulator gene, which makes the molecular diagnosis difficult, while luckily in Hungary the cause is the deltaF508del in almost 60% of the cases. METHOD: The authors introduced the quantitative real-time PCR and melting curve analysis method for the detection of deltaF508del. They studied 94 samples (70 blood, 16 chorionic villi, 8 amniotic fluids). RESULTS: They found 52 healthy normal, 36 heterozygotic and 5 homozygotic samples and one deltaF508C homozygotic sample. DISCUSSION: The quantitative real-time PCR and melting curve analysis is a reliable and fast method for detection of deltaF508del. The results are available in one hour following the DNA isolation. The primer-probe set makes available the deltaF508Cdel detection too.

Adult↗