Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyzed using PCR. A total of 297 Hungarian patients with 21-hydroxylase deficiency are registered in the 2nd Department of Pediatrics, Budapest, Hungary, and their clinical status was evaluated. Blood samples for CYP21 genotype determination could be obtained from 167 patients (representing 306 unrelated chromosomes and 56.2% of the total group of patients). Eight of the most common mutations were screened [In2 (intron 2 splice mutation), I172N, Del (Del: apparents large gene conversion), Q318X, R356W, 1761Tins, ClusterE6, V281L] using allele-specific amplification. The most frequent mutation in the Hungarian CAH population was found to be In2. Our results have shown a good genotype/phenotype correlation in case of most mutations; the In2 mutation is associated mostly with the severe form of the disease, whereas I172N was expressed in a wide spectrum of phenotypes

Analysis and Comparison of Rapid Methods for the Determination of Ochratoxin A Levels in Organs and Body Fluids Obtained from Exposed Mice

Mycotoxins are bioaccumulative contaminants impacting animals and humans. The simultaneous detection of frequent active exposures and accumulated mycotoxin level (s) in exposed organisms would be the most ideal to enable appropriate actions. However, few methods are available for the purpose, and there is a demand for dedicated, sensitive, reliable, and practical assays. To demonstrate the issue, mice were exposed to a relevant agent Ochratoxin A (OTA), and accumulated OTA was measured by fine-tuned commercial assays. Quantitative high-performance liquid chromatography with fluorescence detection, enzyme-linked immunosorbent assay, and flow cytometry assays have been developed/modified using reagents available as commercial products when appropriate. Assays were performed on excised samples, and results were compared. Accumulated OTA could be detected and quantified; positive correlations (between applied doses of exposure and accumulated OTA levels and the results from assays) were found. Dedicated assays could be developed, which provided comparable results. The presence and accumulation of OTA following even a short exposure could be quantitatively detected. The assays performed similarly, but HPLC had the greatest sensitivity. Blood contained higher levels of OTA than liver and kidney. We demonstrate that specific but flexible and practical assays should be used for specific/local purposes, to measure the exposure itself and accumulation in blood or organs

Algebrai logika; relativitáselmélet logikai struktúrájának vizsgálata = Algebraic logic; investigating the logical structure of relativity theory

Gödel, Einstein és Tarski hagyományait kívánjuk folytatni, elmélyítve a Gödel-Einstein együttműködés eredményeit is, és folytatva Tarski tudományegyesítési programmját. Ismert, hogy a logika és a matematika modern megalapozása Gödel és Tarski úttörő munkásságára vezethető vissza. Kevésbbé ismert, hogy Gödel 1948-tól majdnem élete végéig Einsteinnel szorosan együttműködve relativitáselméleten dolgozott, ahol ugyanolyan meghökkentő új horizontokat tárt fel mint logikában, és hogy Gödel relativitáselméleti gondolatai folytatásaként fogható fel a forgó fekete lyukak mai elmélete. Ezen előzmények folytatása a jelen projektum, mely Tarskival és munkatársaival való személyes együttműködés (pl. közös könyv) keretében kezdődött. Az alapgondolat a logika, algebra, geometria, téridőelmélet és relativitáselmélet egységben való művelése. Eredményeinkből egy példa: Nagy, lassan forgó fekete lyukakról bizonyítottuk, hogy a belsejében létrejövő un. zárt időszerű görbe (időhurok) létrejöttére vonatkozó szokásos irodalmi magyarázatok tévesek. Nem az un. drag effect (mozgó anyag magával vonszolja a téridőt) okozza a zárt görbéket, hanem egy egészen más jellegű hatás: a fénykúpok kinyílása a forgással ellentétes irányban. Az eredmény a General Relativity and Gravitation című folyóiratban jelenik meg. | The reported project intends to continue traditions of Gödel, Einstein and Tarski continuing the spirit of the Gödel-Einstein collaboration and pursuing Tarski's programme for unifying science. Modern logic and meta-mathematics was created (basically) by Gödel and Tarski. It is less well known that beginning with 1948 Gödel spent much time with Einstein and worked on relativity theory. Of course, he remained a logician in spirit. Gödel obtained fundamental breakthroughs in relativity like his ones in logic and foundations. The theory of general relativistic spacetimes not admitting a global Time was initiated by Gödel, and came to full blossom during the renaissance of black hole physics during the last 25 years. The present project was originally started in personal cooperation with Tarski and his collaborators. The idea is to study logic, algebra, geometry, spacetime theory and relativity in a strong unity. A sample result of ours: We proved about big, slowly rotating black holes that the usual explanation in the literature of why such black holes contain a closed timelike curve (CTC) is flawed. Namely, it is not the gravitational frame dragging effect which creates CTCs, instead, there is a completely different kind of effect in action there: light cones open up in the direction opposite to that of the rotation of the source and this goes on to such an extreme extent that CTCs are created. Our paper on this appears in the journal General Relativity and Gravitation

Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyzed using PCR. A total of 297 Hungarian patients with 21-hydroxylase deficiency are registered in the 2nd Department of Pediatrics, Budapest, Hungary, and their clinical status was evaluated. Blood samples for CYP21 genotype determination could be obtained from 167 patients (representing 306 unrelated chromosomes and 56.2% of the total group of patients). Eight of the most common mutations were screened [In2 (intron 2 splice mutation), I172N, Del (Del: apparents large gene conversion), Q318X, R356W, 1761Tins, ClusterE6, V281L] using allele-specific amplification. The most frequent mutation in the Hungarian CAH population was found to be In2. Our results have shown a good genotype/phenotype correlation in case of most mutations; the In2 mutation is associated mostly with the severe form of the disease, whereas I172N was expressed in a wide spectrum of phenotypes. 1999

Fumonisin B1 exposure increases Hsp70 expression in the lung and kidney of rats without inducing significant oxidative stress

The objective of this experiment was to determine whether fumonisin B1 (FB1) added to the diet of rats in a dose of 50 mg/kg changes the production of heat shock protein 70 (Hsp70) in the lungs and kidney of rats. We also studied the effect of this mycotoxin on the antioxidant system of the body. Mature (8 weeks old) male Wistar Crl:WI BR rats (n = 6/group) were fed the toxin-containing diet for 5 days. FB1 resulted in a 7% body weight reduction without significantly changing the feed intake. Western blot analysis of the lungs and kidney demonstrated a substantial (1.4-fold and 1.8-fold, respectively) increase in Hsp70 expression. Alterations could not be detected in the clinical chemical parameters (total protein, albumin, total cholesterol, glucose, creatinine and urea concentrations, and aspartate aminotransferase activity). There was no statistically significant change in malondialdehyde concentrations and the measured antioxidant parameters (the amount of reduced glutathione, GSH and glutathione peroxidase activity, GPx) in the blood plasma, lung and kidney tissue. Thus, it can be concluded that FB1 did not induce oxidative stress in the lungs and kidney, but increased Hsp70 production

Magyar Tanítóképző 45 (1932) 6

Magyar Tanítóképző A Tanítóképző-intézeti Tanárok Országos Egyesületének folyóirata 45. évfolyam, 6. szám Budapest, 1932. júniu