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

Vadon előforduló Vitis taxonok élőhelyi és morfológiai jellemzői a Kárpát-medence és a Közép-Balkán régió kapcsolatában.

Vizsgálatunk célja a közép-magyarországi Vitis sylvestris élőhelyek állapotfelmérése, összehasonlításban, a balkáni régióban található ligeti szőlő élőhelyekkel. 17 hazai valamint 17 bulgáriai egyedet hasonlítottunk össze élőhelyi jellemzők és hajtás morfológia alapján. Utóbbi esetben 20 bélyeget vettünk figyelembe a Nemzetközi Szőlészeti és Borászati Szervezet számkulcsos rendszeréből (OIV, 2001). Az élőhelyek vizsgálata során összehasonlítottunk középhegységi valamint ártéri állományokat is. A bulgáriai élőhelyek inváziós fertőzöttsége általánosan alacsony volt. Ezzel szemben a hazai állományokban, így az Akalacsi erdő összetételében többnyire hibrid jellegű egyedeket találtunk. Legnagyobb számban a Budai hegységben a Hármashatár hegyen, valamint a Gödi sziget területén fordultak elő morfológiailag még Vitis sylvestris - ként azonosítható és ezáltal védendő egyedek. Eredményeink rámutattak arra, hogy azokon az élőhelyeken, ahol a Vitis riparia megjelenik a V. sylvestris egyedek száma fokozatosan csökken, helyette legfeljebb a V. ripariával létrejött hibridek találhatók meg. Az introgresszió során, a génanyag eróziója a védett faj végleges eltűnéséhez vezethet

Peculiarities of ball-milling induced crystalline-amorphous transformation in Cu-Zr-Al-Ni-Ti alloys

An amorphization process in (Cu49Zr45-xAl6+x)100-y-zNiyTiz (x = 1, y, z = 0; 5; 10) induced by ball-milling is reported in the present work. The aim was investigation of the effect of Ni and Ti addition to Cu49Zr45Al6 and Cu49Zr44Al7 based alloys as well as type of initial phases on the amorphization processes. Also the milling time sufficient for obtaining fully amorphous state was determined. The entire milling process lasted 25 h. Drastic structural changes were observed in each alloy after first 5 h of milling. In most cases, after 15 h of milling the powders had fully amorphous structure according to XRD except for those ones, where TEM revealed a few nanosized crystalline particles in the amorphous matrix. In (Cu49Zr45Al6)80Ni10Ti10 alloy the amorphization process took place after 12 h of milling and the amorphous state was stable up to 25 h of milling. In the case of (Cu49Zr44Al7)80Ni10Ti10 alloy the powders have fully amorphous structure between 12 h and 15 h of milling. © 2015 Elsevier Ltd. All rights reserved

Microstructure evolution in CuZrAl alloys during ball-milling

Abstract The microstructure evolution during mechanical milling was studied in the CuZrAl system. The compositions lay on the two liquidus surfaces indicating different solidification processes in the three alloys. Cu(55 − x)Zr(35 + x)Al10 (x = 0; 5; 10 at.%) master alloys were produced by arc melting. After identification of the phases, the master alloys were milled for 25 h and amorphous/crystalline powders were synthesized. The master alloys contained Al21Cu28Zr51, AlCu2Zr, CuZr and traces of Cu10Zr7 phases in different volume fractions. The optimal milling time was determined to be 15 h based on the results of X-ray diffractometry (XRD) and differential scanning calorimetry (DSC) examinations. The 5 h milled powder contained CuZr and Al21Cu28Zr51 phases, which diminished due to further milling resulting in amorphous matrix composite with nanosized Al21Cu28Zr51 phase. The thermal stability of the samples was investigated by DSC. The peak temperatures of the first crystallization process of the as-milled powders shifted as function of milling time and polynomial curves were fitted to the measured points

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

Magyar Tanítóképző 45 (1932) 6

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

Microglia control the spread of neurotropic virus infection via P2Y12 signalling and recruit monocytes through P2Y12-independent mechanisms

Neurotropic herpesviruses can establish lifelong infection in humans and contribute to severe diseases including encephalitis and neurodegeneration. However, the mechanisms through which the brain's immune system recognizes and controls viral infections propagating across synaptically linked neuronal circuits have remained unclear. Using a well-established model of alphaherpesvirus infection that reaches the brain exclusively via retrograde transsynaptic spread from the periphery, and in vivo two-photon imaging combined with high resolution microscopy, we show that microglia are recruited to and isolate infected neurons within hours. Selective elimination of microglia results in a marked increase in the spread of infection and egress of viral particles into the brain parenchyma, which are associated with diverse neurological symptoms. Microglia recruitment and clearance of infected cells require cell-autonomous P2Y12 signalling in microglia, triggered by nucleotides released from affected neurons. In turn, we identify microglia as key contributors to monocyte recruitment into the inflamed brain, which process is largely independent of P2Y12. P2Y12-positive microglia are also recruited to infected neurons in the human brain during viral encephalitis and both microglial responses and leukocyte numbers correlate with the severity of infection. Thus, our data identify a key role for microglial P2Y12 in defence against neurotropic viruses, whilst P2Y12-independent actions of microglia may contribute to neuroinflammation by facilitating monocyte recruitment to the sites of infection

Microglia control the spread of neurotropic virus infection via P2Y12 signalling and recruit monocytes through P2Y12-independent mechanisms

Neurotropic herpesviruses can establish lifelong infection in humans and contribute to severe diseases including encephalitis and neurodegeneration. However, the mechanisms through which the brain's immune system recognizes and controls viral infections propagating across synaptically linked neuronal circuits have remained unclear. Using a well-established model of alphaherpesvirus infection that reaches the brain exclusively via retrograde transsynaptic spread from the periphery, and in vivo two-photon imaging combined with high resolution microscopy, we show that microglia are recruited to and isolate infected neurons within hours. Selective elimination of microglia results in a marked increase in the spread of infection and egress of viral particles into the brain parenchyma, which are associated with diverse neurological symptoms. Microglia recruitment and clearance of infected cells require cell-autonomous P2Y12 signalling in microglia, triggered by nucleotides released from affected neurons. In turn, we identify microglia as key contributors to monocyte recruitment into the inflamed brain, which process is largely independent of P2Y12. P2Y12-positive microglia are also recruited to infected neurons in the human brain during viral encephalitis and both microglial responses and leukocyte numbers correlate with the severity of infection. Thus, our data identify a key role for microglial P2Y12 in defence against neurotropic viruses, whilst P2Y12-independent actions of microglia may contribute to neuroinflammation by facilitating monocyte recruitment to the sites of infection

Komplex fogyókúrás program hatékonyságának követése célskála segítségével

Dolgozatomban a Klinikán működő fogyókúrás program hatékonyságát vizsgáltam célskála segítségével. Kutatásom úttörőnek számít, mert nem végeztek még hasonló vizsgálatot ebben a témában.A hat fokozatú célskála mellett a VAS és WOMAC skálákat alkalmaztam. A célskála alkalmazásával hatékonyabbá tehetők a fogyókúrás programok, a résztvevő páciensek is elégedettebbek.MSc/MAkomplex rehabilitációmagyarlevelezőg