Q52150785
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Závěrečná zpráva o řešení grantu Interní grantové agentury MZ ČR
49 s. : il.
Cílem je zjistit výskyt infekcí Helicobacter pylori /Hp/ u dětí bez příznaků a s různými formami onemocnění žaludku a duodena, srovnat antigeny Hp pro jejich využití v nepřímé diagnostice a vypracovat farmakoterapii infekce Hp.
- Konspekt
- Buněčná biologie. Cytologie
- NLK Obory
- parazitologie
- infekční lékařství
- NLK Publikační typ
- závěrečné zprávy o řešení grantu IGA MZ ČR
BACKGROUND AND AIMS: Epiretinal membrane (ERM) refers to a semi-translucent tissue layer found on the inner surface of the retina especially in older people. Surgical treatment remains controversial, optimal timing for such treatment is difficult to determine and data on the natural evolution of this disorder are limited. In this study we evaluated the natural course of idiopathic epimacular membrane in 49 patients (53 eyes). MATERIALS AND METHODS: Retrospective evaluation of a group of 49 patients (53 eyes) with idiopathic epimacular membrane confirmed by biomicroscopy, photography and optical coherence tomography (OCT). RESULTS: Patient age ranged from 51-85 years (median 72). The average follow-up was 21.3 months (± 14). Between the initial and final best corrected visual acuity (BCVA) there was no statistically significant difference although there was a significant tendency to decrease in BCVA (Spearman P=0.05) during the follow-up. Initial BCVA correlated with initial central retinal thickness (CRT), final CRT, final volume, and age. The final BCVA significantly correlated with all parameters measured. CONCLUSION: BCVA during follow-up tended to decrease: difference of starting BCVA and final BCVA values depending on the time of monitoring is significant. This we attribute to a slow gradual progression of macular changes. But, initial and final BCVA measurements were not substantially different at the end. Thus, in the absence of any clear signs of ERM progression, we can safely postpone the decision whether to perform PPV.
- MeSH
- akustická mikroskopie MeSH
- epiretinální membrána etiologie patologie chirurgie MeSH
- fotografování metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- optická koherentní tomografie MeSH
- pooperační péče MeSH
- poruchy zraku etiologie MeSH
- předoperační péče MeSH
- retrospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- zraková ostrost fyziologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
Diffuse astrocytomas and oligodendrogliomas (WHO grade II) are the most common histological subtypes of low-grade gliomas (LGGs). Several molecular and epigenetic markers have been identified that predict tumor progression. Our aim was in detail to investigate the genetic and epigenetic background of LGGs and to identify new markers that might play a role in tumor behavior. Twenty-three patients with oligodendroglioma or oligoastrocytoma (LGO) and 22 patients with diffuse astrocytoma (LGA) were investigated using several molecular-cytogenetic and molecular methods to assess their copy number variations, mutational status and level of promoter methylation. The most frequent findings were a 1p/19q codeletion in 83% of LGO and copy-neutral loss of heterozygosity (CN-LOH) of 17p in 72% of LGA. Somatic mutations in the isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) genes were detected in 96% of LGO and 91% of LGA. The O-6-methylguanine-DNA-methyltransferase (MGMT) promoter was methylated in 83% of LGO and 59% of LGA. MutL homolog 3 (MLH3) promoter methylation was observed in 61% of LGO and 27% of LGA. Methylation of the MGMT promoter, 1p/19q codeletion, mutated IDH1, and CN-LOH of 17p were the most frequent genetic aberrations in LGGs. The findings were more diverse in LGA than in LGO. To the best of our knowledge, this is the first time description of methylation of the MLH3 gene promoter in LGGs. Further studies are required to determine the role of the methylated MLH3 promoter and the other aberrations detected.
- MeSH
- astrocytom genetika metabolismus MeSH
- epigeneze genetická * MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metylace DNA * MeSH
- nádorové biomarkery MeSH
- nádory mozku genetika metabolismus MeSH
- oligodendrogliom genetika metabolismus MeSH
- prognóza MeSH
- stupeň nádoru MeSH
- transportní proteiny genetika metabolismus MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
A possible effect of mini-invasive heart intervention on a response of hypothalamo-pituitary-adrenal stress axis and conversion of cortisone to cortisol were studied. We have analysed two stress markers levels (cortisol, cortisone) and cortisol/cortisone ratio in 25 sows using minimally invasive heart catheterisation as the stress factor. The values of studied parameters were assessed in four periods of the experiment: (1) the baseline level on the day before intervention, (2) after the introduction of anaesthesia, (3) after conducting tissue stimulation or ablation, and (4) after the end of the catheterisation. For statistical analyses we used the non-parametric Friedman test for four dependent samples (including all four stages of the operation) or three dependent samples (influence of operation only, baseline level was excluded). Statistically significant differences in both Friedman tests were found for cortisol and for cortisone. We have found the highest level of cortisol/cortisone ratio in unstressed conditions, then it decreased to the minimal level at the end of the intervention. We have concluded that cortisol levels are blunted by the influence of anaesthesia after its administration, and therefore decrease back to the baseline at the end of the operation.
- MeSH
- biologické markery krev MeSH
- fyziologický stres fyziologie MeSH
- hydrokortison krev MeSH
- kortison krev MeSH
- prasata MeSH
- srdeční katetrizace * MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
In order to study a possible effect of mini-invasive heart intervention on a response of hypothalamo-pituitary-adrenal stress axis, we analyzed four stress markers (cortisol, cortisone, DHEA and DHEAS) in 25 sows using minimally invasive heart catheterisation as the stress factor. The marker levels were assessed in four periods of the experiment, (1) the baseline level on the day before intervention, (2) after the introduction of anesthesia, (3) after conducting tissue stimulation or ablation, and (4) after the end of the catheterisation. For statistical analyses we used the non-parametric Friedman test for four dependent samples (including all four stages of the operation) or three dependent samples (influence of operation only, baseline level was excluded). Statistically significant differences in both Friedman tests were found for cortisol and for cortisone. Significant differences for DHEA as well as for DHEAS were found for all tested stages but not for the effect of operation itself. We have concluded that cortisol levels are blunted by the influence of anesthesia after its administration, and therefore decrease back to the baseline at the end of the operation. The other markers (cortisone, DHEA and DHEAS) acted as balanced systems against the injurious stress effect.
- MeSH
- adrenokortikotropní hormon metabolismus MeSH
- anestezie MeSH
- dehydroepiandrosteron metabolismus MeSH
- dehydroepiandrosteronsulfát metabolismus MeSH
- hormony metabolismus MeSH
- hydrokortison metabolismus MeSH
- kortison metabolismus MeSH
- prasata MeSH
- psychický stres metabolismus MeSH
- srdeční katetrizace škodlivé účinky MeSH
- zvířata MeSH
- Check Tag
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Východiska: Nízkostupňové gliomy představují heterogenní skupinu primárních mozkových nádorů. Jejich současná diagnostika je založena hlavně na histologické klasifikaci. S rozvojem molekulární cytogenetiky však bylo objeveno několik markerů umožňujících lépe definovat daný gliomový subtyp. Cílem studie bylo sledovat získané chromozomové aberace v buňkách nízkostupňových gliomů molekulárně cytogenetickými metodami a hledat nové genomové změny, které by mohly souviset s progresí nádoru. Soubor pacientů a metody: Technikami interfázní fluorescenční in situ hybridizace (I‑FISH) a single nucleotide polymorphism (SNP) array jsme vyšetřili vzorky od 41 pacientů s histologicky potvrzenými nízkostupňovými gliomy (19 žen a 22 mužů, medián věku 42 let). Výsledky: Kromě nejčastější známé aberace, tj. kombinované delece krátkých ramen chromozomu 1 a dlouhých ramen chromozomu 19 (u 81,25 % pacientů), jsme u pacientů s oligodendrogliomy detekovali další rekurentní aberace – delece krátkých a/nebo dlouhých ramen chromozomu 4 (25 % nemocných), delece krátkých ramen chromozomu 9 (18,75 % pacientů), delece dlouhých ramen chromozomu 13 a monozomii chromozomu 18 (18,75 % pacientů). U pacientů s astrocytomy jsme často pozorovali deleci krátkých ramen chromozomu 1 (24 % nemocných), amplifikaci dlouhých ramen chromozomu 7 (16 % nemocných), deleci dlouhých ramen chromozomu 13 (20 % nemocných), segmentální uniparentální disomii (UPD) na krátkých ramenech chromozomu 17 (60 % pacientů) a deleci dlouhých ramen chromozomu 19 (28 % nemocných). U jednoho pacienta jsme pozorovali tzv. chromothripsis chromozomu 10. Závěr: V pilotní studii jsme kombinací metod I‑FISH a SNP array detekovali nejen známé chromozomové změny, které jsou typické pro jednotlivé subtypy nádorů, ale také nové nebo méně časté rekurentní aberace. Jejich úlohu v progresi nádorových buněk, stejně jako jejich význam z hlediska klasifikace nízkostupňových gliomů však bude nezbytné ověřit v dalších studiích na větších souborech nemocných.
Background: Low-grade gliomas represent a heterogeneous group of primary brain malignancies. The current diagnostics of these tumors rely strongly on histological classification. With the development of molecular cytogenetic methods several genetic markers were described, conributing to a better distinction of glial subtypes. The aim of this study was to assess the frequency of acquired chromosomal aberrations in low‑grade gliomas and to search for new genomic changes associated with higher risk of tumor progression. Patients and Methods: We analysed biopsy specimens from 41 patients with histological diagnosis of low-grade glioma using interphase fluorescence in situ hybridization (I‑FISH) and single nucleotide polymorphism (SNP) array techniques (19 females and 22 males, medium age 42 years). Results: Besides notorious and most frequent finding of combined deletion of 1p/19q (81.25% patients) several other recurrent aberrations were described in patients with oligodendrogliomas: deletions of p and q arms of chromosome 4 (25% patients), deletions of the short arms of chromosome 9 (18.75% patients), deletions of the long arms of chromosome 13 and monosomy of chromosome 18 (18.75% patients). In biopsy specimens from patients with astrocytomas, we often observed deletion of 1p (24% patients), amplification of the long arms of chromosome 7 (16% patients), deletion of the long arm of chromosome 13 (20% patients), segmental uniparental disomy (UPD) of the short arms of chromosome 17 (60% patients) and deletion of the long arms of chromosome 19 (28% patients). In one patient we detected a shuttered chromosome 10 resulting from chromothripsis. Conclusion: Using a combination of I‑FISH and SNP array, we detected not only known chromosomal changes but also new or less frequent recurrent aberrations. Their role in cancer‑cell progression and their impact on low‑grade gliomas classification remains to be elucidated in a larger cohort of patients. Key words: oligodendroglioma – astrocytoma – SNP array – interphase FISH – glioma This work was supported by grants of Internal Grant Agency of the Czech Ministry of Health No. NT/13212-4, PRVOUK-P27/LF1/1 a RVO-VFN64165. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers. Submitted: 5. 11. 2013 Accepted: 29. 1. 2014
- Klíčová slova
- SNP array, interfázní FISH,
- MeSH
- amplifikace genu MeSH
- astrocytom * genetika patologie MeSH
- chromozomální aberace MeSH
- chromozomální delece MeSH
- cytogenetické vyšetření MeSH
- delece genu MeSH
- DNA sondy MeSH
- dospělí MeSH
- gliom * genetika patologie MeSH
- hybridizace in situ fluorescenční MeSH
- jednonukleotidový polymorfismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory mozku * genetika patologie MeSH
- oligodendrogliom * genetika patologie MeSH
- pilotní projekty MeSH
- statistika jako téma MeSH
- uniparentální disomie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
Myomectomy is associated with a high risk of de-novo adhesion formation that may decrease fertility. The purpose of this study was to compare the reproductive outcome of patients after laparoscopic or open myomectomy who underwent second-look (SL) hysteroscopy and laparoscopy including adhesiolysis with patients with no SL intervention. A total of 170 patients underwent open or laparoscopic myomectomy at one centre. All patients were recommended SL. Reproductive results were analyzed in 12 and 24 months intervals following myomectomy. Out of 170 post-myomectomy patients 96 signed informed consent with SL (group A) and 74 withheld (group B). The cumulative pregnancy rate in the 24-months follow-up was: 61.4% and 66.7% (p = 0.535) in group A and group B respectively. Adhesions of adnexa were observed and lysed in the overall of 34.0% of patients at the time of SL. Intrauterine synechiae were present in 1.56% of patients at the SL hysteroscopy. No case of uterine rupture during pregnancy or delivery was recorded. Our results show that the pregnancy rate of patients after myomectomy who underwent SL hysteroscopy and laparoscopy is similar to that of patients with no SL procedure. Adhesiolysis performed during SL does not seem to improve the reproductive outcome of post-myomectomy patients.
- MeSH
- adheze tkání komplikace epidemiologie etiologie MeSH
- dospělí MeSH
- hysteroskopie metody MeSH
- laparoskopie metody MeSH
- leiomyom chirurgie MeSH
- lidé MeSH
- nádory dělohy chirurgie MeSH
- následné studie MeSH
- těhotenství MeSH
- úhrn těhotenství na počet žen v reprodukčním věku MeSH
- ženská infertilita epidemiologie etiologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
Cíl studie: Onkologická cytologie a kolposkopie jsou základními prebioptickými metodami pro odhalování prekaceróz na děložním hrdle. Křivka incidence invazivního karcinomu cervixu se v posledních desetiletích snížila jen nepatrně. Studie má proto zjistit, jaká je validita prebioptických metod a jaká je jejich korelace s biopsií. Typ studie: Analýza výsledků vyšetření onkologické cytologie, kolposkopie a biopsie z let 2002 a 2003 a z roku 2009 se statistickým vyhodnocením výsledků. Název a sídlo pracoviště: Onkologické centrum, Gynekologická a porodnická klinika 1. LF UK a VFN, Praha. Ústav fyziologie, 1. LF UK, Praha. Ústav patologie, OSÚ, Ostrava. ÚPMD, Praha. Předmět a metoda studie: Zhodnocení závěrů prebioptických metod, klasické onkologické cytodiagnostiky a expertního kolposkopického vyšetření s biopsií před zahájením Národního screeningu v ČR a v jeho průběhu. Závěr: Ze zdravotnické dokumentace 423 žen, které měly lézi na cervixu a které byly ošetřeny v centru gynekologické onkologické prevence na Gynekologické a porodnické klinice 1. LF UK a VFN, jsme získali výsledky klasické onkologické cytologie, kolposkopie a biopsie. Shoda cytodiagnostiky s biopsií byla významně závislá na době, kdy bylo vyšetření provedeno. V letech 2002 a 2003 korelovala cytodiagnostika s biopsií u závažných stupňů prekanceróz, HSIL, ve 40 %. V roce 2009 byla korelace cytologie s biopsií u HSIL v 68 %. Kolposkopická diagnóza prekanceróz se shodovala s biopsií v letech 2002 až 2003 v 90 % a v roce 2009, v období národního screeningu, až v 98 %.
The aim of the study: The basic praebioptic methods detecting the precancerous lesions of the uterine cervix are oncologic cytology (PAP smears) and colposcopy. However in the Czech Republic the incidence of the invasive carcinomas during the last 10 years did not conciderably decrease. Therefore the goal of our study is to estimate the validity of the prebioptic methods and compare the results of praebioptic methods (procedures) versus biopsy. Type of the study: Analysis of the results of the oncologic cervical cytology comparing with the results of cervical biopsies performed during the years 2002–2003 were compared to those of the year 2009. The subject and methods of the study: evaluation of the prebioptic methods (cytology, colposcopy) versus biopsy prior and during the start of the National Screening in the Czech Republic. Setting: 1. Centre for Gynaecological Oncological prevention, 1st Faculty of Medicine, Charles University Prague, Department of Gynaecology and Obstetrics. 2. Institute of Physiology, Department of cybernetics, 1st Faculty of Medicine, Charles University, Prague. 3. Institute of Pathology, University of Ostrava. 4. Institue for Mother and Child Care, Prague. Summary: We screened the documentation related to the treatement of 423 women with cervical lesions, examined at the Oncological prevention centre of the Obstetrical and Gynaecological Department of the 1st Faculty of Medicine Charles University Prague and the General Teaching Hospital in Prague 2. Results of the oncologic cytology, colposcopy and biopsy were compared. The comparison revealed differences related to the time of examinations. During the years 2002 and 2003 the agreement between cytologic diagnosis and biopsies in the group of HSIL was 40 %. In the year 2009 the agreement between HSIL and CIN was 68% the colposcopic diagnosis of precancerous lesions with those of bioptic specimens, during the years 2002 and 2003 was 90% while in the year 2009, during the National Screening, the agreement reached 98%.
- Klíčová slova
- prekancerózy cervixu,
- MeSH
- biopsie MeSH
- cytodiagnostika metody normy přístrojové vybavení MeSH
- dysplazie děložního hrdla diagnóza patologie MeSH
- gynekologické vyšetření metody MeSH
- kolposkopie MeSH
- lidé MeSH
- nádory děložního čípku diagnóza patologie prevence a kontrola MeSH
- prediktivní hodnota testů MeSH
- prekancerózy diagnóza patologie MeSH
- retrospektivní studie MeSH
- role lékaře MeSH
- vaginální stěr metody normy MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- srovnávací studie MeSH
- tabulky MeSH
Gestational diabetes mellitus (GDM) represents additional risks to both mother and infant. Moreover it increases a woman's risk of cardiovascular disease in the postpartum. The aim of our study was therefore to detect changes of both the QT dispersion and the electrical heart field that could be typical for GDM. Body surface potential maps were obtained using the Cardiac 112.2 device from 26 young women with GDM and 54 young healthy pregnant women in the 36th week of pregnancy. The same recordings were obtained from 18 healthy women in the same age (19-36 years). The average QT dispersion (±SD) in women suffering from GDM was significantly higher (107±25 ms) both than in those with physiological pregnancy (73±18 ms) and than in the normal subjects (34±12 ms) (P<0.001). Moreover we have found in GDM patients shorter QRS complex 82.0±6.8 ms vs. 89.5±8.2 ms in healthy pregnant women and 90.8±7.9 ms in the control group (p=0.011), more horizontal electrical heart axis [16.4±20.1° vs. 42.4±28.7° and 74.6±39.2° respectively (P<0.05)] and lower some depolarization and repolarization amplitudes on isopotential and isointegral maps. According to these results we suppose that described electrocardiographic changes reflect a deterioration of the complete process of ventricular depolarization and repolarization in GDM.
OBJECTIVES: Recently, mutations in DNMT3A gene have been described in about 25% acute myeloid leukemia (AML) cases, preferentially in monocytic AML. They were found to predict worse overall survival (OS) of mutated patients. PATIENTS AND METHODS: RT-PCR followed by direct sequencing was used to test the presence of DNMT3A mutations in 226 AML patients with an intermediate-risk (IR) cytogenetics. RESULTS: Sixty-seven patients of 226 (29.6%) carried a mutation in the DNMT3A gene. Occurrence of DNMT3A mutations was associated with female sex (P = 0.027) and with the presence of FLT3/ITD (P = 0.003), but not with particular FAB subtypes. Patients with DNMT3A mutation had higher initial WBC counts than those without it (P = 0.064) only because of higher incidence of FLT3/ITD within these cases. There was no difference between mutated and wild-type groups in reaching complete remission (CR) (P = 0.380). OS was not affected by DNMT3A mutation (P = 0.251), but OS of patients who reached CR was longer in DNMT3A negative cases (P = 0.025). Patients with DNMT3A mutation had a higher relapse rate (P = 0.007). Patients carrying both the DNMT3A mutation and FLT3/ITD relapsed more often than either patients with single DNMT3A mutation (P = 0.044) or patients with FLT3/ITD only (P = 0.058). DNMT3A mutations were associated with higher relapse rate even within the FLT3/ITD-negative group (P = 0.072). After reaching CR, these two genetic factors were independent predictors of relapse at multivariate analysis (P < 0.001). Only three of 30 'double-mutated' (FLT3/ITD+, DNMT3A+) patients are still alive, all of them having undergone hematopoietic stem cell transplant. CONCLUSIONS: We have confirmed the high incidence of DNMT3A mutations in patients with AML with IR cytogenetics. Patients with DNMT3A mutations relapse more often and have inferior OS when only patients achieving CR are analyzed. 'Double-mutated' patients have a very poor prognosis.
- MeSH
- akutní myeloidní leukemie genetika mortalita MeSH
- chromozomální aberace MeSH
- DNA-(cytosin-5-)methyltransferasa genetika MeSH
- dospělí MeSH
- incidence MeSH
- indukce remise MeSH
- Kaplanův-Meierův odhad MeSH
- kodon MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- prognóza MeSH
- recidiva MeSH
- rizikové faktory MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- tyrosinkinasa 3 podobná fms metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH