A laboratóriumi diagnosztika eredményei az elmúlt 20 évben kórismézett 155 phaeochromocytoma/paraganglioma szindrómás beteg adatainak elemzése alapján.

INTRODUCTION: Laboratory diagnosis of pheochromocytoma-paraganglioma syndrome has been markedly improved during the past two decades. AIM: Retrospective assessment of diagnostic utility of urinary catecholamines and their metabolites as well as serum chromogranin A in 155 patients diagnosed at the 2nd Department of Medicine, Semmelweis University. METHOD: Urinary catecholamines and metabolites were measured using high-performance liquid chromatography with electrochemical detection in 155 patients with pheochromocytoma-paraganglioma (of whom 28.4% had hereditary background) and in 170 non-pheochromocytoma patients used as controls. Serum chromogranin A was measured by immunoradiometry. RESULTS: Sensitivity (93.2%) and specificity (87.0%) of urinary fractionated metanephrines were higher than those of urinary catecholamines (90.9% vs. 85.7%, respectively) and serum chromogranin A (88.7% and 77.5%, respectively). Urinary normetanephrine and serum chromogranin A correlated positively with tumor size (r = 0.552, p<0.0001 and r = 0.618, p<0.0001, respectively). CONCLUSIONS: These data confirm the diagnostic utility of urinary catecholamines and their metabolites. Urinary normetanephrine and serum chromogranin A may help to estimate tumour mass and probably tumour progression. Orv. Hetil., 2015, 156(16), 626-635

Fractional flow reserve in below the knee arteries with critical limb ischemia and validation against gold-standard morphologic, functional measures and long term clinical outcomes.

INTRODUCTION: The aim of this study was to assess the applicability of fractional flow reserve measurement (FFR) in below-the-knee (BTK) arteries and to evaluate its correlation with non-invasive functional parameters before and after angioplasty. METHODS: We enrolled 39 patients with severe BTK arterial lesions. Inclusion criteria were critical limb ischemia (Rutherford 4-6) and angiographically proven arterial stenosis of the distal lower limb (percent diameter stenosis >/=70%). Exclusion criteria were chronic total occlusion, diabetic foot syndrome and non-viable distal lower limb. The transstenotic distal/proximal pressure ratio was measured under resting (Pd/Pa) and hyperemic (FFR) conditions induced by 40mg intra-arterial Papaverin and was compared with quantitative angiography-, laser Doppler- and duplex ultrasound-derived measurements before and after percutaneous angioplasty (PTA). RESULTS: Comparing measurements before and after PTA, we found significant improvements in the resting Pd/Pa values (0.79 [0.67-0.90] vs 0.90 [0.85-0.97]; p<0.001) and FFR values (0.60+/-0.19 vs 0.76+/-0.15; p<0.001), respectively. At baseline, Pd/Pa ratio and FFR were significantly albeit weakly correlated with % area stenosis (r:-0.31, p=0.05 and r:-0.31, p=0.05, respectively). After PTA, neither Pd/Pa nor FFR remained correlated with % area stenosis. Similarly, prior PTA, Pd/Pa ratio and FFR were significantly correlated with TcO2% and perfusion unit change (r:0.48, p<0.01 and r:0.34, p<0.05, respectively), but after intervention, these significant correlations vanished. Pd/Pa and FFR values did not show correlation with duplex ultrasound-derived measurements. At 1year, major adverse events (MAEs) and major adverse cardiovascular and cerebrovascular (MACCEs) were observed in 7 (17.9%) and in 9 (23.1%) patients, respectively. CONCLUSION: CLI due to severe BTK arterial disease was associated with several impediments of baseline pressure measurements which were significantly improved after successful PTA and stenting. Significant relationships between pressure data and functional and imaging parameters existed prior intervention but vanished after. Further studies are required to determine the clinical value of pre- and post-PTA pressure measurements in BTK arterial disease

Az indvidualizált farmakoterápia lehetőségének kidolgozása - súlyos bőrgyógyászati mellékhatásokkal is járó adverz gyógyszerreakciók farmakogenomikai és etiológiai vizsgálata, genetikai megelőzése, preventív rendszerek, tesztek fejlesztése = Working towards the realization of personalized medicine - pahrmacogenomic and etiological study of adverse drug reactions with severe cutan involvement, developing preventive systems and assays

Pharmacogenomika: 80 lamotrigint vagy carbamazepint szedő beteg- súlyos cután gyógyszermellékhatással vagy a nélkül adatait és DNS-ét archiváltuk. A DNS mintákat CYP2D6 és CYP2C19 polymorphismusra Amplichip CYP450 IVD kittel Affymetrix Gene Chip Fluidics Station 450-en és/vagy Affymetrix Drug Metabolizing Enzymes and Transporters (DMET+) rendszerben vizsgáltuk. 4 technikai probléma- prolongált vizsgálat: 1, Az első mérések elavult software-t jeleztek, cseréltük 2. Ez új 7G reading chip rendszert igényelt. A 4 állomásból 3 működik 3, A két Roche teszt-chip lejárt kóddal érkezett 4, Előzetes génvizsgálatokat kezdtük az Affymetrix Genotyping Console software-rel, DMET chipeken, de a releváns eredmények PCR re-tesztelése most zajlik. További vizsgálatok Állati eredetű anabolikus steroidok és fokozott aminosav bevitele volt a kiváltó faktor eosinophil fasciitises testépítő betegünkben,akiben a készítmények alkalmazását követően új, állati eredetű mycoplasma arginini fertőzést igazoltunk. Súlyos gyógyszermellékhatásban szenvedő betegeinket teszteltünk társuló mycoplasma infekciókat PCR-rel és szerológiai módszerekkel. Bevezettük az epicutan gyógyszertesztelést tünetmentes betegeinkben. Atomerőműben szűrtünk bőrdaganatokat- szabadidős UV expozíció hatását igazoltuk- (fényérzékenyítő gyógyszereket nem szedtek). Két magyar összefoglaló tanulmány: 1, Toxicodermákban végzett LTT tesztek eredményéről 2, Erythema multiformében a gyógyszermellékhatásgyakoriságáról. | Pharmacogenomics: data and DNA from 80 patients under lamotrigine or carbamazepine therapy with or without severe cutaneous adverse effects were collected. DNAs were analyzed for CYP2D6 and CYP2C19 polymorphisms by Amplichip CYP450 IVD kit on an Affymetrix Gene Chip Fluidics Station 450 and by Affymetrix Drug Metabolizing Enzymes and Transporters (DMET + Solution) chip. 4 problems - study prolongation. 1, Uncertain data indicated an old software system, the change needed new 7G reading chips in our Affymetrix Station. 2,Still, one out of 4 stations is not working currently 3, Two Roche test chips arrived by expired codes 4, Preliminary genetic studies were also performed by an Affymetrix Genotyping Console software on a DMET chip and relevant genes and polymorphisms are currently under PCR re-testing. Further studies In a patient with eosinophil fasciitis induced by anabolic steroid and aminoacid intake from uncontrolled animal sources we identified a new animal mycoplasma arginini infection. In patients severe drug adverse reactions associated mycoplasma infections were studied by PCR and immunology. We introduced the patch testing for drug sensitivity. In a Hungarian nuclear power plant screened for cutaneous malignancies the role of outdoor UV was identified - without drug induced photosensitivity. Hungarian papers on lymphocyte transformation drug testing and erythema multiforme also related to drug sensitivity were published