Zde - 2. lékařská fakulta - Univerzita Karlova
Zde - 2. lékařská fakulta - Univerzita Karlova Zde - 2. lékařská fakulta - Univerzita Karlova
P-22. ROLE PŘIROZENÉ IMUNITY V PATOGENEZI DIABETU MELLITU 1.TYPUKayserová J. 1 , Včeláková J. 2 , Dudková E. 1 , Štechová K. 2 , Šumnik Z. 2 , Koloušková S. 2 , HromádkováH. 1 , Ulmannová T. 2 , Špíšek R. 1 , Šedivá A. 11 Ústav imunologie, UK 2. LF a FN Motol, Praha; 2 Pediatrická klinika, UK 2. LF a FN Motol, PrahaŠkolitel: Prof. MUDr. Anna Šedivá, D.Sc.Úvod: Diabetes mellitus 1.typu (T1D) je autoimunitní onemocnění s progresivní destrukci β-buněkpankreatu a poruchou produkce insulinu, v jehož patogenezi se uplatňují především T lymfocyty.Poslední studie ale potvrzují i roli vrozené imunity na vzniku T1D.Cíl: Našim cílem bylo stanovit rozdílnou reaktivitu dendritických buněk po stimulací různými ligandyToll-like receptorů u pacientů s T1D.Materiál a metody: Vyšetřili jsme 59 pacientů s T1D: 46 pacientů s čerstvým záchytem T1D, 13pacientů s dlouhodobě kompenzovaným T1D, 58 prvostupňových příbuzných (rodič, sourozenec, dítě)a 63 zdravých kontrol bez autoimunitního onemocnění, i s negativní rodinnou anamnézou naautoimunitní onemocnění. Skupinu příbuzných jsme dále stratifikovali na základě positivitydiabetogenních autoprotilátek v séru (anti-GAD65, anti-IA-2) do 2 podskupiny.DC v periferní krvi jsme stanovili pomocí kombinace monoklonálních protilátek pomocí FACS Aria.Periferní mononukleární buňky jsme stimulovali různými TLR ligandy a pomocí Luminex kitů jsmestanovili koncentraci cytokinů v supernatantech.Výsledky: Signifikantní nižší počet myeloidních DC i plasmacytoidních DC byl nalezen mezi pacientys T1D (106/L, mean±SD: mDC 11.3±7.0; pDC 7.1±7.0) a jejich prvostupňovými příbuznými (mDC14.2±6.3; pDC 8.8±5.9) ve srovnání se zdravými kontrolami (mDC 18.3±9.1; pDC 13.4±7.9), (p
P-23. IMPAIRED GROWTH DURING CHILDHOOD IN PATIENTS WITH PRIMARY CILIARYDYSKINESIASvobodová T. 1 , Djakow J. 1 , Zemková D. 1 , Cipra A. 2 , Pohunek P. 1 and Lebl J. 11 Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and MotolUniversity Hospital; 2 Department of Paediatrics, Masaryk Hospital, Usti nad LabemSupervisor: Prof. Petr Pohunek, M.D., Ph.D.Introduction: Primary ciliary dyskinesia (PCD) is a congenital condition leading to early-onsetsymptoms of recurrent/chronic respiratory infections, resulting in chronic inflammation and potentiallyin chronic pulmonary disease with bronchiectases and possibility of developing respiratoryinsufficiency in subsequent age.Aims: Our phenotypic study aimed to analyse the statural growth in a cohort of clinically diagnosedchildren and young adults with primary ciliary dyskinesia.Materials and Methods: We analysed the statural growth of 30 children and young adults with PCDaged 1.5-24 years (median 14.5) diagnosed with the disease at the age of 0.5-17 years (median 8)and compared them to the reference growth data of the background population. Of these, eightsubjects carried pathogenic mutations in either DNAH5 or DNAI1 gene.Results: In children with PCD the body height (expressed as standard deviation score; SDS)progressively decreased from +0.46±0.24 SDS (mean±SEM) at their 1st birthday, +0.08±0.22 SDS at3 years and -0.21±0.22 SDS at 5 years, to -0.52±0.21 SDS (p=0.02 vs. 0) at 7 years, -0.71±0.23 SDS(p=0.007 vs. 0) at 9 years, -0.54±0.24 SDS (p=0.04 vs. 0) at 11 years, and to -0.56±0.26 SDS (p=0.04vs. 0) at 13 years. This reflects low growth velocity during the childhood growth period. Thereafter, theheight stabilised and did not differ from the background population up to the age of 17 years. Thegrowth deterioration was not dependent on sex, selected clinical signs or symptoms, the diseaseseverity or the occurrence of pathogenic mutations in the DNAH5 or DNAI1 genes.Conclusions: We conclude that PCD leads to chronic wasting with significant growth deteriorationduring childhood.Support: Supported by Ministry of Health, Czech Republic - the Internal grant agency project (No.NT11469-5) and the project for conceptual development of research organization 00064203(University Hospital Motol).55
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P-23. IMPAIRED GROWTH DURING CHILDHOOD IN PATIENTS WITH PRIMARY CILIARYDYSKINESIASvobodová T. 1 , Djakow J. 1 , Zemková D. 1 , Cipra A. 2 , Pohunek P. 1 and Lebl J. 11 Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and MotolUniversity Hospital; 2 Department of Paediatrics, Masaryk Hospital, Usti nad LabemSupervisor: Prof. Petr Pohunek, M.D., Ph.D.Introduction: Primary ciliary dyskinesia (PCD) is a congenital condition leading to early-onsetsymptoms of recurrent/chronic respiratory infections, resulting in chronic inflammation and potentiallyin chronic pulmonary disease with bronchiectases and possibility of developing respiratoryinsufficiency in subsequent age.Aims: Our phenotypic study aimed to analyse the statural growth in a cohort of clinically diagnosedchildren and young adults with primary ciliary dyskinesia.Materials and Methods: We analysed the statural growth of 30 children and young adults with PCDaged 1.5-24 years (median 14.5) diagnosed with the disease at the age of 0.5-17 years (median 8)and compared them to the reference growth data of the background population. Of these, eightsubjects carried pathogenic mutations in either DNAH5 or DNAI1 gene.Results: In children with PCD the body height (expressed as standard deviation score; SDS)progressively decreased from +0.46±0.24 SDS (mean±SEM) at their 1st birthday, +0.08±0.22 SDS at3 years and -0.21±0.22 SDS at 5 years, to -0.52±0.21 SDS (p=0.02 vs. 0) at 7 years, -0.71±0.23 SDS(p=0.007 vs. 0) at 9 years, -0.54±0.24 SDS (p=0.04 vs. 0) at 11 years, and to -0.56±0.26 SDS (p=0.04vs. 0) at 13 years. This reflects low growth velocity during the childhood growth period. Thereafter, theheight stabilised and did not differ from the background population up to the age of 17 years. Thegrowth deterioration was not dependent on sex, selected clinical signs or symptoms, the diseaseseverity or the occurrence of pathogenic mutations in the DNAH5 or DNAI1 genes.Conclusions: We conclude that PCD leads to chronic wasting with significant growth deteriorationduring childhood.Support: Supported by Ministry of Health, Czech Republic - the Internal grant agency project (No.NT11469-5) and the project for conceptual development of research organization 00064203(University Hospital Motol).55
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