5 research outputs found
A Fizikai Int茅zet Ra-Be neutronforr谩s谩nak felhaszn谩l谩sa 茅s eltemet茅se
A 44 茅ven 谩t oktat谩si c茅lra haszn谩lt laborat贸riumi r谩dium-226-berillium neutronforr谩s felhaszn谩l谩si ideje lej谩rt, eltemet茅se sz眉ks茅gess茅 v谩lt. A forr谩s sz茅tszerel茅se, temet茅sre el艖k茅sz铆t茅se egyed眉l谩ll贸, szakmailag komoly feladatot jelentett. A cikkben besz谩molunk a feladat el艖铆r谩sok szerinti v茅grehajt谩s谩r贸l. A m茅r茅si eredm茅nyek alapj谩n a radioakt铆v hullad茅ktemet艖nek egy s茅rtetlen, teljesen z谩rt izot贸pot adtunk 谩t
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Background: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear. Objective: To investigate and describe nine patients with CMCD in Eastern and Central Europe, to assess the biochemical impact of STAT1 mutations, to determine cytokines in supernatants of Candida-exposed blood cells, to determine IL-17-producing T cell subsets and to determine STAT1 haplotypes in a family with the c.820C>T (R274W) mutation. Results: The novel c.537C>A (N179K) STAT1 mutation was gain-of-function (GOF) for 纬-activated factor (GAF)-dependent cellular responses. In a Russian patient, the cause of CMCD was the newly identified c.854 A>G (Q285R) STAT1 mutation, which was also GOF for GAF-dependent responses. The c.1154C>T (T385M) mutation affecting the DNA-binding domain (DBD) resulted in a gain of STAT1 phosphorylation in a Ukrainian patient. Impaired Candida-induced IL-17A and IL-22 secretion by leucocytes and lower levels of intracellular IL-17 and IL-22 production by T cells were found in several patients. Haplotype studies indicated that the c.820C>T (R274W) mutation was recurrent due to a hotspot rather than a founder effect. Severe clinical phenotypes, including intracranial aneurysm, are presented. Conclusions: The c.537C>A and c.854A>G mutations affecting the CCD and the c.1154C>T mutation affecting the DBD of STAT1 are GOF. The c.820C>T mutation of STAT1 in patients with CMCD is recurrent due to a hotspot. Patients carrying GOF mutations of STAT1 may develop multiple intracranial aneurysms by hitherto unknown mechanisms
Lant谩n-bentonit el艖谩ll铆t谩sa
Munk谩m sor谩n Istenmezei Ca-bentonitb贸l lant谩n-bentonitot 谩ll铆tottam el艖 k眉l枚nb枚z艖 h艖m茅rs茅kleten, majd megvizsg谩ltam, hogy a h艖m茅rs茅klet hogyan befoly谩solja a kationcsere m茅rt茅k茅t.BSc/BAvegy茅szm茅rn枚kg