Autism spectrum disorder (ASD) is a serious neurodevelopmental
disorder, associated with autonomic dysregulation. However, the
pathomechanism leading to autonomic abnormalities is still unclear. The aim of this study was to assess autonomic nervous system (ANS) activity during baseline in homogenous group of autistic children using electrodermal activity (EDA), as an index of sympathetic activity and short
-term heart rate variability (HRV) reflecting predominantly cardiac vagal control. Fifteen ASD boys and 15 healthy age-matched boys at the age of 7-15 years were examined. The continuous EDA and ECG were recorded during resting phase in a supine position. Evaluated parameters: EDA amplitude (μS), RR interval, spectral power, peak frequency and power spectral density in low (LF-HRV: 0.04-0.15
Hz) and high-frequency (HF-HRV: 0.15-0.4 Hz) bands of HRV spectral analysis. In ASD group we found significantly shortened RR intervals
(729±20ms vs. 843±30 ms, p=0.005), lower mean EDA (0.66±0.13 μS vs. 1.66±0.42 μS, p=0.033), reduced spectral activity and power spectral density in HF-HRV compared to controls (2.93±0.12 ms2 vs. 3.38±0.10 ms2, p=0.01; 4.12±0.10 ms2/Hz vs. 4.56±0.11 ms2/Hz, p=0.008, respectively). We suggested that impairment in resting autonomic regulation associated with ASD could represent an important
pathomechanism leading to potential cardiovascular complications in ASD.
Cíl: Výměnný obrázkový komunikační systém (VOKS) je na podmínky České republiky (ČR) modifi kovaná metoda vycházející z komunikačního systému PECS (The picture exchange communication system), který byl vytvořen v Chicagu v USA. Výzkum měl za cíl zmapovat spokojenost uživatelů s touto metodou, zhodnotit obtížnost osvojení metody VOKS a zmapovat dodržování doporučených postupů. Uživatelem autoři rozumí, pracovníka, který využívá metodu VOKS při komunikaci s klienty s PAS. Ve výzkumné části jsou prezentovány výsledky šetření, které se uskutečnilo v pěti vybraných speciálních zařízení a čtyřech školách na území celé ČR. Metody: Výzkumné šetření proběhlo v období od září 2010 do prosince 2010. Byl vytvořen dotazník vlastní konstrukce, který obsahoval 24 otázek. Kritériem pro zařazení respondentů do výzkumu, byla práce s metodou VOKS v zaměstnání, které respondenti aktuálně vykonávali. Výzkumný soubor tvořil 54 respondentů. Výsledky: Analýzou výsledků bylo zjištěno, že většina respondentů je spokojena s metodou VOKS. Rozdíly jsou patrné v době osvojení metody VOKS v praxi. Na tomto konkrétním vzorku respondentů se nepodařilo určit obecně platný čas potřebný k osvojení metody VOKS. Jako problematické se jeví i přesné dodržování postupů. Hlavními důvody nedostatečného dodržování postupů v praxi je potřeba individuálního přizpůsobení klientovi, nedostatek personálu a nedostatek času na nácvik. Velkým problémem je aplikace metody v době dovolených proškoleného personálu. Závěr: Výzkum naznačil, že metoda VOKS se prozatím, z pohledu individuálního hodnocení respondentů, jeví jako vhodná pro komunikaci s klienty s různorodými poruchami řeči. Metoda VOKS může přispět pracovníkům ve speciálních zařízeních ke zkvalitňování ošetřovatelské péče a k lepšímu uspokojování potřeb klienta., Aims: Czech picture exchange communication system called VOKS is a modifi ed method of communication system PECS (Picture Exchange Communication System) which was created in Chicago in the USA. The research aim was to assess user satisfaction with this method, to evaluate diffi culties with acquiring the VOKS methods and to map compliance with recommended practice. A “user” is understood as somebody who uses VOKS method to communicate with clients suff ering from ASD. The research section presents results of the survey which took place in selected fi ve specialised facilities and four schools all over the Czech Republic. Methods: The survey covered the period from September 2010 to December 2010. We designed our own questionnaire which contained 24 questions. The criterion for inclusion of respondents in the research was current professional working experience with the VOKS method. The research sample consisted of 54 respondents. Results: The results of the analysis revealed that most respondents are satisfi ed with the VOKS methods. Differences are evident in the time when they adopted VOKS methods in practice. With this particular sample of respondents the time necessary to master the VOKS method could not be established. Accurate compliance with recommended procedures proved to be problematic. The main reason for poor compliance with the procedures in practice is the necessity to adapt it for an individual client, staff shortages and insuffi cient time for training. A major problem is the application of the method when the trained staff is on holiday. Conclusion: The research indicates that for the time being the respondents consider the VOKS method to be a suitable method for communicating with clients with a variety of speech disorders. VOKS method can help workers in special facilities to improve nursing care and to better meet clients’ needs., Kamila Marková, Martina Jedlinská, and Literatura 9
Visfatin was originally described as an adipokine with insulin mimetic effects. Recently, it was found that visfatin is identical with the Nampt (nicotinamide phosphoribosyltransferase) gene that codes for an intra- and extracellular NAD biosynthetic enzyme and is predominantly expressed outside the adipose tissue. In the current study, we found strong protein and mRNA expression of visfatin in rat heart, liver, kidney, and muscle, while the expression of visfatin in visceral fat was significantly lower and undetectable in subcutaneous fat. The insulin-mimetic effects of visfatin (extracellular form of Nampt or eNampt) are controversial and even less is known about autocrine effects of visfatin (intracellular form of Nampt or iNampt). Since liver plays a major role in glucose metabolism, we studied visfatin effects on insulin-stimulated cellular glucose uptake in Fao rat hepatocytes using RNA interference (RNAi). RNAi-mediated downregulation of visfatin expression in Fao cells was associated with significantly reduced NAD biosynthesis (0.3±0.01 vs. 0.5±0.01 mmol/h/g, P<0.05) and with significantly decreased incremental glucose uptake after stimulation with insulin when compared to controls with normal expression of visfatin (0.6±0.2 vs. 2.2±0.5 nnmol/g/2 h, P=0.02). These results provide evidence that visfatin exhibits important autocrine effects on sensitivity of liver cells to insulin action possibly through its effects on NAD biosynthesis., V. Škop ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy
The aim of the study was to compare the prevalence of autoimmune thyroid diseases in three groups of women (66 with breast cancer (CaB), 68 with colorectal cancer (CaC) and 49 without oncological diseases as a control group). Serum levels of thyroid-stimulating hormone (TSH), free thyroxin (fT4), antibodies to thyroglobulin (TGB-ab) and thyroperoxidase (TPO-ab) and tumor markers CEA, CA 15-3 and CA 19-9 were investigated in all subjects by using the chemiluminiscence method. In contrast to Graves’ disease (no observed case), autoimmune thyroiditis was diagnosed in 24.2 % women with CaB (4.5 % euthyroid and 19.7 % with subclinical or overt hypothyroidism), compared to 16.7 % in women with CaC (2.0 % euthyroid and 14.7 % with subclinical or overt hypothyroidism) and 16.2 % controls (4.0 % euthyroid and 12.2 % with subclinical or overt hypothyroidism). Serum levels of TGB-ab were higher in the group with breast cancer as compared to those with colorectal cancer and the control group (medians: 35.80 vs. 31.75 vs. 27.70, p<0.001). Similarly, the percentage of positive TGB-ab and TPO-ab serum levels was higher in women with breast cancer as compared to those with colorectal cancer and the control group. The results of the study support the controversial theory that there is an increased prevalence of autoimmune thyroiditis in women with breast cancer.
Autoimunitní encefalitidy jsou akutní či subakutní monofázická nebo progresivní zánětlivá onemocnění CNS podmíněná autoimunitními mechanizmy (působením patogenních autoprotilátek nebo autoagresivních efektorových buněk). Mezi autoimunitní encefalitidy lze řadit klasické paraneoplastické syndromy s postižením CNS, limbické encefalitidy, anti‑NMDAR encefalitidu, Morvanův syndrom, Rasmussenovu encefalitidu, onemocnění z okruhu Stiff‑Person Syndromu včetně progresivní encefalomyelitidy s rigiditou a myoklonem, akutní autoimunitně podmíněné extrapyramidové poruchy hybnosti, encephalitis lethargica, neurologické syndromy se zvýšenou senzitivitou vůči glutenu a další. V posledních letech prodělala tato oblast neuroimunologie prudký rozvoj. Byly popsány nové syndromy, upřesněny klinické projevy a etiopatogenetické mechanizmy některých již známých chorob a identifikována řada nových typů protilátek. Tato minimonografie si klade za cíl podat ucelený přehled současných znalostí v oblasti autoimunitních encefalitid a umožnit tak klinikům snazší orientaci v této oblasti neurologie., Autoimmune encephalitis is a term used to describe a group of acute or subacute monophasic or progressive inflammatory CNS disorders with autoimmune pathogenesis (i.e. induced by pathogenic autoantibodies or autoreactive effector cells). This group includes such diverse conditions as paraneoplastic CNS syndromes, limbic encephalitis, anti-NMDAR encephalitis, Morvan’s syndrome, Rasmussen encephalitis, stiff-person syndrome spectrum disorders including progressive encephalomyelitis with rigidity and myoclonus, autoimmune movement disorders, encephalitis lethargica, neurological syndromes with increased sensitivity to gluten, etc. This area of neuroimmunology has evolved dynamically during the past 10 years. Many new syndromes have been described, understanding of pathogenesis of the already known syndromes has improved and new antibodies were identified. This review aims to provide an overview of current knowledge in the field of autoimmune encephalitis in order to help clinicians navigate the rough waters of this exciting area of neurology. Key words: autoimmune diseases – autoantibodies – encephalitis – paraneoplastic syndromes –limbic encephalitis – anti-N-methyl-D-aspartate receptor encephalitis – epilepsy 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., Vědomostní test, and D. Krýsl, M. Elišák
Autoimunitní forma pankreatitidy patří mezi specifickou formu onemocnění slinivky břišní s významným podílem autoimunitní složky v etiopatogenezi. V současné době existují 2 formy onemocnění, které jsou definované klinicky i histomorfologicky a jsou laboratorně popsány. Přes řadu společných rysů histomorfologických se obě formy zásadně odlišují přítomností tzv. endoteliálních granulárních lézí (GEL) u typu 2, resp. absencí GEL u typu 1. Abundantní přítomnost gamaglobulinu a imunoglobulinu G4 charakterizuje 1. formu nemoci, podobně jako častá přítomnost IgG4 pozitivních extrapankreatických lézí. Subtyp 2 bývá typicky spojen s nálezem idiopatických střevních zánětů, především ulcerózní kolitidy. Oba typy autoimunitní pankreatitidy se vyznačují rychlou odpovědí na terapii steroidy. Vzhledem k různým diagnostickým kritériím autoimunitní formy pankreatitidy byl v roce 2011 zveřejněn diagnostický konsenzus sjednocující stávající kritéria a vycházející z klinických symptomů, biochemických nálezů, nálezů při použití zobrazovacích metod, histomorfologie žlázy a pozitivní odezvy na podání steroidů. Stálým problémem zůstává včasná diferenciální diagnostika mezi fokální formou autoimunitní pankreatitidy a karcinomem hlavy pankreatu. MRI/CT, MRCP a v Japonsku ERCP, s cílenou biopsií žlázy pod EUS kontrolou, jsou doporučeny jako metody volby., The autoimmune type of pancreatitis represents the specific disease of pancreas, with significant contribution of autoimmune processes in its etiopathogenesis. Currently, there are two proved subtypes of this particular pancreatopathy, which are defined clinically, histomorphologically and serologically. They have many histomorphological signs in common, but differ in the presence of so-called granulocytic epithelial lesions (GEL), which are absent in subtype 1. The subtype 1 is characterized by the presence of gammaglobulines, esp. immunoglobuline G4 and IgG4 positive extrapancreatic lesions. The subtype 2 is typically associated with the inflammatory bowel diseases, esp. ulcerative colitis. But the common characteristic of both subtypes is the fact response to applied steroid treatment. Due to diverse diagnostic criteria in the past, in 2011 the consensus for the diagnosis of autoimmune pancreatitis was announced. It is based on clinical symptoms, biochemical results, the results got by using of imaging methods, histomorphology and positive response to steroid treatment. The matter to be solved is the question of early differential diagnosis between focal autoimmune pancreatitis and adenocarcinoma of pancreatic head. From imaging methods are MRI/CT, MRCP (in Asia ERCP), EUS with targeted biopsy of the gland (under EUS control), are recommended as the methods of choice., and Petr Dítě, Ivo Novotný, Bohuslav Kianička, Martin Rydlo, Hana Nechutová, Arnošt Martínek, Magdalena Uvírová, Martina Bojková, Jana Dvořáčková
Probrána stručně historie autoimunitních polyglandulárních syndromů (APS) a základní charakteristiky typů 1 a 2. Podrobněji jsou uvedeny klinické aspekty mnohem hojnějšího typu 2 z pohledu endokrinologické a diabetologické praxe. Stručně jsou zmíněny přístupy k diagnóze preklinického, subklinického a manifestního stadia hlavních onemocnění vyskytujících se společně v rámci APS. Zmíněny i léčebné aspekty a jejich úskalí dané kombinací různých endokrinních i neendokrinních autoimunitních onemocnění. Zdůrazněna je skutečnost, že péče o nemocné s APS je celoživotní a zdravotní stav pacientů bývá většinou značně komplikovaný. V některých případech kombinace různých chorobných stavů může vést až k plné invalidizaci postiženého., Karel Vondra, and Lit. 13
For over 25 years, the International GNSS Service (IGS) has been processing observational data from the Global Navigation Satellite Systems (GNSSs). Hence, long time series of station coordinates are available, however, they are burdened with discontinuities, station velocity changes, and gross errors. Discontinuities and periodic variations are caused by equipment changes at stations, earthquakes, geophysical processes, data problems, as well as local environmental changes. As a result, many approaches have been identified that identify and remove discontinuities in the GNSS coordinate time series. One of them is the program Finding Outliers and Discontinuities In Time Series (FODITS) implemented in the Bernese GNSS Software environment (Dach et al., 2015), developed by the Astronomical Institute, University of Bern. The program is designed for the automatic analysis of time series, in which the functional model is adapted to the time series of coordinates depending on the adopted parameters. This study presents the analysis of long-term GNSS coordinate time series reprocessed in the framework of the realization of the International Terrestrial Reference Frame 2014 (ITRF2014) using the FODITS program. The results show that the optimum confidence level for the autonomous detection of station discontinuities in FODITS is 99% and 98%, for 7-day and 3-day GNSS solutions, respectively, when compared to the manual discontinuity detection from ITRF2014. However, the manual analysis unsupported by statistical tests as conducted in ITRF2014 may contain errors over which further elaboration is indispensable. On the other hand, routine interpretation of GNSS coordinate time series in a fully autonomous manner, although much faster, is not free from drawbacks, in particular in detecting appropriate epochs of discontinuities and changes in station velocities.
We introduce and investigate Nondeterministically Bounded Modulo Counter Automata (NBMCA), which are two-way multi-head automata that comprise a constant number of modulo counters, where the counter bounds are nondeterministically guessed, and this is the only element of nondeterminism. NBMCA are tailored to recognising those languages that are characterised by the existence of a specific factorisation of their words, e. g., pattern languages. In this work, we subject NBMCA to a theoretically sound analysis.