• MeSH
• imunogenetika * MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

• MeSH
• imunogenetika MeSH
• lymfocyty MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Publikační typ
• kolektivní monografie

Zápal stredného ucha predstavuje jedno z najbežnejších ochorení na svete a vo všeobecnosti patrí k najčastejším príčinám poruchy sluchu. V niektorých prípadoch môžu epizódy akútnej otitídy progredovať do chronického zápalu stredného ucha aj napriek adekvátnej liečbe. Kvôli komplexnej patogenéze a narastajúcej rezistencii patogénov na antibiotickú liečbu je nevyhnutné hľadanie iných terapeutických postupov, ktorými by bolo možné toto ochorenie modulovať a liečiť. Preto je zásadné porozumieť úlohe vrodenej imunity v strednom uchu pri obrane proti mikroorganizmom. V tejto prehľadovej práci sa zaoberáme úlohou prirodzenej imunity pri otitíde a poukazujeme na úlohy vrodenej celulárnej imunity pri ochrane stredného ucha vo svetle najnovších poznatkov. Vrodený imunitný systém v strednom uchu je zodpovedný za rýchlu identifikáciu a následné odstránenie patogénov. Bunky imunitného systému exprimujú obrovské množstvo receptorov s rozmanitými funkciami s cieľom eliminovať mnohé infekcie skôr, ako sa rozvinie antigénom slabo aktivovaná adaptívna imunita.

Otitis media is one of the most common diseases in the world and generally it also belongs to the most frequent causes of hearing loss. In some cases, it may progress to chronic otitis media despite adequate initial treatment. Due to its complex pathogenesis and growing resistance of pathogens to antibiotic treatment, it is necessary to look for other therapeutic procedures that could be used to modulate and treat this disease. Therefore, it is essential to understand the role of innate immunity of the middle ear in defence against microorganisms. In this article, we discuss the role of innate immunity in otitis media and point to the role of innate immune cells in protecting the middle ear in the light of current knowledge. The innate immune system in the middle ear is responsible for rapid identification and subsequent elimination of pathogens. Cells of the immune system express a multitude of receptors with diverse functions to eliminate many infections before a weakly antigen-sensitized adaptive immunity develops.

• MeSH
• imunogenetika MeSH
• lidé MeSH
• otitis media * imunologie   MeSH
• střední ucho imunologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

BACKGROUND: Hepatitis B virus (HBV) infection is one of the most common infections worldwide, having negative impact on world health due to the tendency for chronification with late complications such as liver cirrhosis and hepatocellular carcinoma. Natural killer (NK) cells as part of innate antiviral defense influence the clinical course of HBV infection: elimination of the virus or chronic disease. AIM: Therefore, we investigated the polymorphisms of the main gene systems, regulating NK-cell function: killer cell immunoglobulin-like receptors (KIRs) and their appropriate HLA class I ligands in 144 HBV infected patients (124 chronic carriers and 20 spontaneously recoved) and 126 ethnically matched healthy controls from the Bulgarian population in a case-control study. METHODS: KIRs and HLA ligands were determined by PCR-SSP or PCR high-resolution typing methods. RESULTS: KIR2DL5B allele variant was significantly less frequent in spontaneously recovered (SR) patients compared to healthy controls (10.0% vs. 45.5%, Pcorr=0.006). The presence of KIR3DL1*004 allele was higher in chronic HBV carriers (CH) than in controls (33.1% vs. 17.6%, Pcorr=0.036). Additionally, SR patients differed from healthy individuals by the lower frequency of HLA-Bw4Ile80 group ligands (30.0% vs 63.7%, P=0.015). Three KIR genotypes were found more frequent in healthy in comparison with HBV infected individuals: ID2 (13.5% vs 5.6%, P=0.025), KIR genotype containing 6 activating KIRs (18.0% vs 7.6%, P=0.017), and KIR genotype composed of 4 activating and 5 inhibitory KIRs (23.8% vs 5.6%, P=0.001). CONCLUSION: These data suggest that inherited KIR and HLA class I ligand polymorphisms may influence the clinical course of HBV infection.

• MeSH
• genotyp MeSH
• hepatitida B * genetika   MeSH
• imunogenetika MeSH
• lidé MeSH
• ligandy MeSH
• nádory jater * MeSH
• receptory KIR genetika   MeSH
• receptory KIR2DL5 MeSH
• studie případů a kontrol MeSH
• virus hepatitidy B genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• akutní lymfatická leukemie genetika   metabolismus   patologie   MeSH
• imunogenetika * MeSH
• lidé MeSH
• nádorové biomarkery genetika   MeSH
• prognóza MeSH
• reziduální nádor genetika   metabolismus   patologie   MeSH
• sekvenování celého genomu normy   MeSH
• sekvenování transkriptomu normy   MeSH
• transkriptom * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• práce podpořená grantem MeSH

AIMS: This is a nation-wide survey of chronic lymphocytic leukemia (CLL) patients at six large hematology centers in the Czech Republic. The aim was to identify specific populations, social, and health characteristics of CLL subgroups divided according to the immunogenetic features of their B cell receptors (BCRs) and clonality. PATIENTS AND METHODS: Questionnaires directed to specific health, social, and environmental conditions were collected in a cohort of 573 CLL patients. For these patients, immunoglobulin heavy chain gene rearrangements were also analyzed in order to gain information about their clonality, IGHV mutational status, and the presence of stereotyped BCRs. Data extracted from the questionnaires were analyzed statistically in the context of immunogenetic features of the cohort. RESULTS: There were no statistically significant differences in the data collected in the survey between patients with mutated and patients with unmutated IGHV. However, patients with oligoclonal CLL reported health conditions such as hypercholesterolemia, hypertension, herpes simplex, tumors, and also, separately, CLL in 1st degree relatives, more often than their monoclonal counterparts. In patients with stereotyped BCRs, we found more frequent alcohol consumption and gastric infections in subset #1 cases and frequent cholecystectomies and familial CLL in subset #2 cases. CONCLUSION: To the best of our knowledge, this study is the first to investigate CLL immunogenetic features and clonality in the context of epidemiological data. We reported statistically significant associations suggesting the influence of certain health and social conditions on a number of clonal populations expanding in CLL and also on characteristic BCR features, especially stereotypy.

• MeSH
• biologické faktory * MeSH
• chronická lymfatická leukemie epidemiologie   genetika   imunologie   MeSH
• dospělí MeSH
• genetická variace * MeSH
• genetika člověka MeSH
• genotyp MeSH
• imunogenetika * MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• receptory antigenů B-buněk genetika   MeSH
• rizikové faktory MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH

Chronic lymphocytic leukemia (CLL) patients with differential somatic hypermutation status of the immunoglobulin heavy variable genes, namely mutated or unmutated, display fundamental clinico-biological differences. Considering this, we assessed prognosis separately within mutated (M-CLL) and unmutated (U-CLL) CLL in 3015 patients, hypothesizing that the relative significance of relevant indicators may differ between these two categories. Within Binet A M-CLL patients, besides TP53 abnormalities, trisomy 12 and stereotyped subset #2 membership were equivalently associated with the shortest time-to-first-treatment and a treatment probability at five and ten years after diagnosis of 40% and 55%, respectively; the remaining cases exhibited 5-year and 10-year treatment probability of 12% and 25%, respectively. Within Binet A U-CLL patients, besides TP53 abnormalities, del(11q) and/or SF3B1 mutations were associated with the shortest time-to-first-treatment (5- and 10-year treatment probability: 78% and 98%, respectively); in the remaining cases, males had a significantly worse prognosis than females. In conclusion, the relative weight of indicators that can accurately risk stratify early-stage CLL patients differs depending on the somatic hypermutation status of the immunoglobulin heavy variable genes of each patient. This finding highlights the fact that compartmentalized approaches based on immunogenetic features are necessary to refine and tailor prognostication in CLL. Copyright © 2019 Ferrata Storti Foundation.

• MeSH
• čas zasáhnout při rozvinutí nemoci MeSH
• chromozomální aberace MeSH
• chronická lymfatická leukemie * MeSH
• imunogenetika MeSH
• Kaplanův-Meierův odhad MeSH
• lidé MeSH
• mutace MeSH
• náchylnost k nemoci * MeSH
• nádorové biomarkery * MeSH
• prognóza MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• staging nádorů MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH

Chronic lymphocytic leukemia (CLL) patients with differential somatic hypermutation status of the immunoglobulin heavy variable genes, namely mutated or unmutated, display fundamental clinico-biological differences. Considering this, we assessed prognosis separately within mutated (M-CLL) and unmutated (U-CLL) CLL in 3015 patients, hypothesizing that the relative significance of relevant indicators may differ between these two categories. Within Binet A M-CLL patients, besides TP53 abnormalities, trisomy 12 and stereotyped subset #2 membership were equivalently associated with the shortest time-to-first-treatment and a treatment probability at five and ten years after diagnosis of 40% and 55%, respectively; the remaining cases exhibited 5-year and 10-year treatment probability of 12% and 25%, respectively. Within Binet A U-CLL patients, besides TP53 abnormalities, del(11q) and/or SF3B1 mutations were associated with the shortest time-to-first-treatment (5- and 10-year treatment probability: 78% and 98%, respectively); in the remaining cases, males had a significantly worse prognosis than females. In conclusion, the relative weight of indicators that can accurately risk stratify early-stage CLL patients differs depending on the somatic hypermutation status of the immunoglobulin heavy variable genes of each patient. This finding highlights the fact that compartmentalized approaches based on immunogenetic features are necessary to refine and tailor prognostication in CLL.

• MeSH
• čas zasáhnout při rozvinutí nemoci MeSH
• chromozomální aberace MeSH
• chronická lymfatická leukemie etiologie   mortalita   patologie   terapie   MeSH
• imunogenetika MeSH
• Kaplanův-Meierův odhad MeSH
• lidé MeSH
• mutace MeSH
• náchylnost k nemoci * MeSH
• nádorové biomarkery * MeSH
• prognóza MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• staging nádorů MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Východiska: Chronická lymfocytární leukemie (CLL) se vyznačuje vysokou klinickou i biologickou variabilitou. Ta je úzce spjata s řadou buněčných a molekulárních znaků, mezi něž patří sekvenční motivy B buněčných receptorů. Tyto motivy se u třetiny pacientů s CLL vyskytují v téměř identické (stereotypní) podobě, což je umožňuje zařadit do homogenních skupin, tzv. stereotypních subsetů CLL. Homogenita stereotypních subsetů není určena pouze sekvenčními motivy B buněčných receptorů, ale odráží se i v klinicko-biologických charakteristikách onemocnění. Pro zjednodušení přístupu k informacím o jednotlivých subsetech byl vytvořen veřejně dostupný webový nástroj Encyclopedia of CLL Subsets. Materiál a metody: Encyklopedie subsetů CLL vznikla jako součást bioinformatické platformy Antigen Receptor Research Tool (ARResT) vyvinuté speciálně pro analýzu, shlukování a anotaci imunoglobulinových sekvencí. Datový soubor od 7 500 CLL pacientů, na kterém je systém Encyklopedie postaven, pochází z mezinárodní studie Agathangelidis et al publikované v roce 2012 [1]. Analýzou tohoto souboru vznikl přehled hlavních stereotypních subsetů a jejich charakteristik. Další související klinické a cytogenomické informace o jednotlivých subsetech byly získány strojovým zpracováním dostupné literatury ze serveru PubMed a jsou pravidelně doplňovány a aktualizovány. Výsledky: Vytvořili jsme unikátní webovou aplikaci Encyklopedie subsetů CLL dostupnou na http: //arrest.tools/subsets. Ta umožňuje interaktivní přístup k informacím o stereotypních subsetech CLL. Uživatel může získat a porovnávat základní informace o hlavních subsetech, vč. jejich klinických a cytogenomických vlastností. Tyto informace byly ručně zkontrolovány a vybrány ze strojově zpracovaných výsledků z databáze PubMed za pomoci odborníků v oblasti výzkumu CLL. V rámci Encyklopedie mají uživatelé také možnost přímo použít publikovaný nástroj ARResT/AssignSubsets a přiřadit vlastní sekvence B buněčných receptorů do hlavních subsetů. Závěr: Encyklopedie subsetů CLL je veřejně dostupný online nástroj, který usnadňuje přístup k nejnovějším poznatkům z oblasti výzkumu stereotypních subsetů u CLL a navíc umožňuje analýzu vlastních dat a interpretaci získaných výsledků. To má velký potenciál pro využití Encyklopedie v běžné praxi.

Background: Chronic lymphocytic leukemia (CLL) is clinically and biologically highly variable disease which is closely related with multiple cellular and molecular markers, including sequence motifs of B-cell receptors. These motifs are highly similar (stereotyped) within one third of CLL patients and create homogeneous groups called stereotyped CLL subsets. The homogeneity is reflected also in clinical and biological characteristics of the disease. To facilitate access to the information about individual subsets, we have created a publicly available web-based tool Encyclopedia of CLL Subsets. Materials and methods: The Encyclopedia of CLL subsets belongs to our bioinformatics platform Antigen Receptor Research Tool (ARResT) developed for analysis, clustering, and annotation of immunoglobulin sequences. To gather primary knowledge about the subsets, we have analyzed a dataset of 7,500 CLL patients published by Agathangelidis et al in 2012 [1]. We have created an overview of major stereotyped subsets and their characteristics. Additional clinical and cytogenomic information about individual subsets has been obtained by machine text processing of available literature from server PubMed and is regularly updated. Results: We have created a unique web-based application Encyclopedia of CLL Subsets available from http: //arrest.tools/subsets for an interactive access to the information about stereotyped CLL subsets. A user can obtain and compare basic information about the major subsets including their clinical and cytogenomic characteristics. These have been manually curated from machine processed results from PubMed database by experts in CLL research. Through the Encyclopedia‘s user interface, user can also directly use our published tool ARResT/AssignSubsets to assign new immunoglobulin sequences to the major subsets. Conclusion: The Encyclopedia of CLL Subsets is a publicly available online tool facilitating access to the most recent research knowledge about stereotyped CLL subsets and enabling analysis of own data and interpretation of the results. This gives the Encyclopedia a great potential for its use in clinical routine.

• MeSH
• B-lymfocyty cytologie   patologie   MeSH
• chronická lymfatická leukemie * genetika   MeSH
• imunogenetika MeSH
• lidé MeSH
• výpočetní biologie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH

The 17th International HLA and Immunogenetics Workshop (IHIW) organizers conducted a Pilot Study (PS) in which 13 laboratories (15 groups) participated to assess the performance of the various sequencing library preparation protocols, NGS platforms and software in use prior to the workshop. The organizers sent 50 cell lines to each of the 15 groups, scored the 15 independently generated sets of NGS HLA genotyping data, and generated "consensus" HLA genotypes for each of the 50 cell lines. Proficiency Testing (PT) was subsequently organized using four sets of 24 cell lines, selected from 48 of 50 PS cell lines, to validate the quality of NGS HLA typing data from the 34 participating IHIW laboratories. Completion of the PT program with a minimum score of 95% concordance at the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci satisfied the requirements to submit NGS HLA typing data for the 17th IHIW projects. Together, these PS and PT efforts constituted the 17th IHIW Quality Control project. Overall PT concordance rates for HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB3, HLA-DRB4 and HLA-DRB5 were 98.1%, 97.0% and 98.1%, 99.0%, 98.6%, 98.8%, 97.6%, 96.0%, 99.1%, 90.0% and 91.7%, respectively. Across all loci, the majority of the discordance was due to allele dropout. The high cost of NGS HLA genotyping per experiment likely prevented the retyping of initially failed HLA loci. Despite the high HLA genotype concordance rates of the software, there remains room for improvement in the assembly of more accurate consensus DNA sequences by NGS HLA genotyping software.

• MeSH
• alely MeSH
• genotyp * MeSH
• HLA antigeny genetika   MeSH
• imunogenetika * MeSH
• konsensuální konference jako téma MeSH
• lidé MeSH
• mezinárodní spolupráce MeSH
• pilotní projekty MeSH
• řízení kvality MeSH
• software MeSH
• testování histokompatibility metody   MeSH
• vysoce účinné nukleotidové sekvenování metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH