Alkalmazott algoritmusok nagyméretű feladatokra = Applied algorithms for large-scale problems

Alap és alkalmazott kutatást végeztünk a következő fő területeken: - Formális matematikai módszerek adatbányászatban és optimalizálásban; - Nagyméretű adatok elemzése és modellezése, hálózatokkal kapcsolatos üzleti intelligencia alkalmazásokban; - Felhasználó és tartalom összerendelése, keresés, ajánlás. A projekt résztvevői zárt láncban a teljes innovációs láncot lefedik az oktatástól (ELTE és BME algoritmusok, adatbányászat, Web információ-keresés előadások) az elméleti kutatásokon át az alkalmazásokig. A kutatáshoz kapcsolódó legfontosabb két ipari partnerünk a Magyar Telekom és az AEGON, amelyek számára egyedi kereső megoldásokat fejlesztettünk, naplóelemzési és ügyfél-elemzési feladatokat oldottunk meg. Európai kapcsolataink segítségével a jelen kutatási eredményekre épülő Digitális Könyvtárak és Biztonság témájú projektben veszünk részt. A kutatásunk nemzetközi elismertségét jelzi, hogy felkértek a legjelentősebb európai adatbányászati verseny, az ECML/PKDD Discovery Challenge szervezésére, illetve a legrangosabb World Wide Web konferencián Workshop Chair, a WSDM (Web Search and Data Mining) konferencián szenior, további kapcsolódó témájú konferencián és workshopon (ICALP, AIRWeb, ESA stb) programbizottági tagot adunk. Legfontosabb eredményeink: - Előrelépést a véges testek feletti polinomfelbontás algoritmusaiban; - Díjnyertes megoldás a KDD Cup 2009 feladaton; - Új Web Spam szűrő módszerek; - Tartalom alapú képkereső eljárások. | Our results cover a wide range of areas of theory and application: -Formal mathematical methods in data mining and optimization; -Analysis and modeling very large scale data with applications in the areas of network related business intelligence; -User-content interaction, optimization. The project team covers full innovation chain from Education (Technical University and Eötvös University courses in algorithms, data mining, Web information retrieval), Pure, Applied Research and Innovation. Our industrial exploitation include the Hungarian Telecom Group and AEGON Hungary where we developed custom search engines and conducted log mining and business intelligence projects. Based on the reported results, we participated in several Digital Libraries and Security ICT projects. Our results are acknowledged by being the main organizer of the major European data mining contest, the ECML/PKDD Discovery Challenge 2010 and the invitation to serve as Workshop Chair at the highest prestige World Wide Web conference, senoir program committee member at the Web Search and Data Mining conferences, and PC member of other related conferences and workshops (ICALP, AIRWeb, ESA etc). Our most important research results include -Breakthrough algorithms in factorization of polynomials over finite fields; -Prize winner solution at KDD Cup 2009, in a telco classification task; -New methodologies in Web Spam filtering; -Content-based multimedia indexing methods

Inflammation and oxidative stress caused by nitric oxide synthase uncoupling might lead to left ventricular diastolic and systolic dysfunction in patients with hypertension

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Broadening the phenotype of the TWNK gene associated Perrault syndrome

Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A).This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome

Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására

INTRODUCTION: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. AIM: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. METHOD: We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. RESULTS: Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. CONCLUSION: Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69

Does dermatitis herpetiformis result in bone loss as coeliac disease does? A cross sectional study

Introduction and objectives: coeliac disease (CD) and its cutaneous manifestation, dermatitis herpetiformis are both (DH) gluten-sensitive diseases. Metabolic bone disease is common among patients with CD, even in asymptomatic forms. Data are scarce about bone density in patients with dermatitis herpetiformis. The aim of our study was to compare bone mineral density (BMD) of celiac and dermatitis herpetiformis patients. Methods: 34 coeliac patients, 53 with dermatitis herpetiformis and 42 healthy controls were studied. The mean age was 38.0 ± 12.1, 32.18 ± 14.95, 35.33 ± 10.41 years in CD, dermatitis herpetiformis, and healthy controls, respectively. Bone mineral density of the lumbar spine, the left femoral neck and radius were measured by dual-energy X-ray absorptiometry. Low bone density, osteopenia and osteoporosis were defined as a body mass density (BMD) T-score between 0 and -1, between -1 and -2.5, and under -2.5, respectively. Results: at lumbar region, consisting of dominantly trabecular compartment, a decreased BMD was detected in 49 % (n = 26) patients with dermatitis herpetiformis, 62 % (n = 21) of CD patients, and 29 % (n = 12) of healthy controls, respectively. Lower BMD were measured at the lumbar region in dermatitis herpetiformis and CD compared to healthy subjects (0.993 ± 0.136 g/cm² and 0.880 ± 0.155 g/cm² vs. 1.056 ± 0.126 g/cm²; p < 0.01). Density of bones consisting of dominantly cortical compartment (femoral neck) did not differ in dermatitis herpetiformis and healthy subjects. Conclusions: our results show that a low bone mass is also frequent among patients with dermatitis herpetiformis. Bone mineral content in these patients is significantly lower in those parts of the skeleton which contain more trabecular than cortical bone

Genetic predisposition in patients with hypertension and normal ejection fraction to oxidative stress

The role of oxidative stress (OXS) due to myocardial nitric oxide synthase (NOS) uncoupling related to oxidative depletion of its cofactor tetrahydrobiopterin (BH4) emerged in the pathogenesis of heart failure with preserved ejection fraction (HFPEF). We determined the prevalence of 6 single nucleotide polymorphisms (SNPs) of genes encoding enzymes related to OXS, BH4 metabolism and NOS function in >60-year-old 94 patients with hypertension and 18 age-matched controls with normal EF. Using echocardiography 56/94(60%) patients with hypertension had left ventricular (LV) diastolic dysfunction (HTDD+ group), 38/94(40%) patients had normal LV diastolic function (HTDD- group). Four SNPs (rs841, rs3783641, rs10483639, rs807267) of guanosine triphosphate cyclohydrolase-1, the rate limiting enzyme in BH4 synthesis, 1 (rs4880) of manganese superoxide dismutase, and 1 (rs1799983) of endothelial NOS genes were genotyped using real time PCR method and Taqman probes. Protein carbonylation (PC), BH4 and total biopterin levels were measured from plasma samples. No between-groups difference in minor allele frequency (MAF) of SNPs was found. We calculated a genetic score indicating risk for OXS based on the MAFs of the SNPs. A high genetic risk for OXS was significantly associated with HTDD+ even after adjustment for confounding variables [OR(95%CI):4.79(1.12-20.54); p=0.035]. In both patient groups PC (p<0.05 for both), plasma BH4 (p<0.01 for both) and in the HTDD+ group total biopterin (p<0.05) increased vs. controls. In conclusion, in patients with hypertension and normal EF, a potential precursor of HFPEF, a partly genetically determined increased OXS seems to be associated with the presence of LV diastolic dysfunction