Creation of a 13-Item Bedside Dysphagia Screening Test

Dysphagia is a common problem that affects people with many health conditions and that can have serious complications. Various dysphagia screening tests exist; however, their creation was associated with certain weaknesses, e.g. none of them used “objective” instrumental tests (e.g., videofluoroscopy or flexible endoscopic examination of swallowing, FEES) in all patients to verify the results. In addition, most dysphagia screening tests were developed for stroke patients. The purpose of this study was to fill this gap. Our research included not only patients with stroke but also patients with other neurological and otorhinolaryngologic conditions. We tested 33 physical examination items in 44 patients and analyzed the results by comparing them to FEES results. Our study is the first one that performed this kind of comparison in all the patients enrolled in the study. Data mining was used to create a 13-item dysphagia screening test that has 88.2% sensitivity

Evaluation of 14 Ychromosomal Short Tandem Repeat Haplotype with Focus on DYS449, DYS456, and DYS458: Czech Population Sample

Aim To evaluate the novel triplex polymerase chain reaction (PCR) assay for the analysis of polymorphic Y-chromosomal short tandem repeat loci (Y-STR). Methods A total of 14 Y-STR loci was analyzed. Allele frequencies for 3 tetrameric Y-STR loci (DYS449, DYS456, and DYS458) and extended haplotype loci typed by Y-PLEXTM 12 system were investigated in a sample of 50 unrelated healthy Czech male donors. We computed the relevant intra- population statistic parameters for our data (gene diversity, average gene diversity over loci, and mean number of pairwise differences) and compared our sample set with other Central European populations using RST pairwise genetic distance. Results We focused on the comparison of genetic diversity between the Y-STR extended haplotype loci and that of the 3 additional loci, and on the benefit of using DYS449, DYS456, and DYS458 in forensic and population genetics applications. Total gene diversity in our sample set was 0.998367 when using all 14 loci. Our data analysis revealed very high genetic diversity at DYS449 locus (0.876735), which surpasses even the diversity at DYS385a/ b (0.819592). Population comparison showed no difference between Czech, Bavarian, Austrian, and Saxon sample set. A minor difference was found between Czech and Polish sample set. Conclusion Typing of 3 Y-chromosomal microsatellite polymorphisms may provide a useful complement to already established sets of Y-STRs

Factors influencing response to Botulinum toxin type A in patients with idiopathic cervical dystonia: results from an international observational study

Objectives Real-life data on response to Botulinum toxin A (BoNT-A) in cervical dystonia (CD) are sparse. An expert group of neurologists was convened with the overall aim of developing a definition of treatment response, which could be applied in a non-interventional study of BoNT-A-treated subjects with CD. Design International, multicentre, prospective, observational study of a single injection cycle of BoNT-A as part of normal clinical practice. Setting 38 centres across Australia, Belgium, Czech Republic, France, Germany, The Netherlands, Portugal, Russia and the UK. Participants 404 adult subjects with idiopathic CD. Most subjects were women, aged 41–60 years and had previously received BoNT-A. Outcome measures Patients were classified as responders if they met all the following four criteria: magnitude of effect (≥25% improvement Toronto Western Spasmodic Torticollis Rating Scale), duration of effect (≥12-week interval between the BoNT-A injection day and subject-reported waning of treatment effect), tolerability (absence of severe related adverse event) and subject's positive Clinical Global Improvement (CGI). Results High rates of response were observed for magnitude of effect (73.6%), tolerability (97.5%) and subject's clinical global improvement (69.8%). The subjective duration of effect criterion was achieved by 49.3% of subjects; 28.6% of subjects achieved the responder definition. Factors most strongly associated with response were age (<40 years; OR 3.9, p<0.05) and absence of baseline head tremor (OR 1.5; not significant). Conclusions Three of four criteria were met by most patients. The proposed multidimensional definition of response appears to be practical for routine practice. Unrealistically high patient expectation and subjectivity may influence the perception of a quick waning of effect, but highlights that this aspect may be a hurdle to response in some patients. Clinical registration number (NCT00833196; ClinicalTrials.gov)

The Heidenhain variant of Creutzfeldt–Jakob disease and concomitant tau pathology: A case report

•The Heidenhain form of CJD is a rare variant with predominantly visual symptoms.•Clinical findings correlate with involvement of posterior cortical regions.•MRI found typical cortical hyperintensities in the occipital regions.•Neuropathology revealed histopathological changes consistent with prion disease.•Hyperphosphorylated tau deposits were an additional and interesting finding in our case

Mitochondrial genomes reveal an east to west cline of steppe ancestry in Corded Ware populations

From around 4,000 to 2,000 BC the forest-steppe north-western Pontic region was occupied by people who shared a nomadic lifestyle, pastoral economy and barrow burial rituals. It has been shown that these groups, especially those associated with the Yamnaya culture, played an important role in shaping the gene pool of Bronze Age Europeans, which extends into present-day patterns of genetic variation in Europe. Although the genetic impact of these migrations from the forest-steppe Pontic region into central Europe have previously been addressed in several studies, the contribution of mitochondrial lineages to the people associated with the Corded Ware culture in the eastern part of the North European Plain remains contentious. In this study, we present mitochondrial genomes from 23 Late Eneolithic and Bronze Age individuals, including representatives of the north-western Pontic region and the Corded Ware culture from the eastern part of the North European Plain. We identified, for the first time in ancient populations, the rare mitochondrial haplogroup X4 in two Bronze Age Catacomb culture-associated individuals. Genetic similarity analyses show close maternal genetic affinities between populations associated with both eastern and Baltic Corded Ware culture, and the Yamnaya horizon, in contrast to larger genetic differentiation between populations associated with western Corded Ware culture and the Yamnaya horizon. This indicates that females with steppe ancestry contributed to the formation of populations associated with the eastern Corded Ware culture while more local people, likely of Neolithic farmer ancestry, contributed to the formation of populations associated with western Corded Ware cultur

The Possibilities and Limits of Research on Anabaptist Burial Sites in South Moravia from the Perspectives of Biological Anthropology, History and Religious Studies

Studie je věnována problematice určení a lokalizace novokřtěneckých pohřebišť na jižní Moravě. Novokřtěnci byli vnitřně rozmanitým náboženským proudem reformace, který vznikl ve 20. letech 16. století v oblastech s německy mluvícím obyvatelstvem. V důsledku perzekuce ze strany nábožensky majoritní, katolické, nebo protestantské vrchnosti, migrovali od roku 1526 na Moravu. Novokřtěnci se od místní populace odlišovali svým etnickým původem, jazykem, způsobem života a náboženským vyznáním. Zanechali výraznou a dosud patrnou stopu v moravské kultuře. O jejich pohřebním ritu, pohřbívání, pohřebištích a kosterních souborech, které by s jistotou patřily novokřtěncům, je známo jen velmi málo. V tomto článku usilujeme o souhrn a konfrontaci informací o dosavadních nálezech skeletů a jejich inventáře, které by mohly patřit některé ze skupin novokřtěnců, s historickými záznamy o jejich sídlech či přímo pohřebištích. Komparaci a identifikaci pohřebišť znesnadňuje neúplnost ve všech zdrojích evidence. U některých sídel máme historické záznamy o pohřebištích, nemáme však archeologické zprávy o dosud nalezených skeletech. S jinými lokalitami jsou spojené kusé zmínky o nalezených skeletech, ale podrobnější archeologické zprávy nejsou k dispozici. Jednoznačnou identifikaci kosterních nálezů komplikuje nevýrazná a nespecifická povaha pohřebního ritu, konfesní pestrost a relativně krátký čas pobytu novokřtěnců na Moravě. Lokality uvedené v článku mohou patřit novokřtěncům, jistotu stanovenou s pomocí laboratorních metod však v současné době máme pouze o pohřebišti v Přibicích (okres Brno-venkov). Zde sestavený soupis potenciálních pohřebišť novokřtěnců může posloužit jako východisko pro ověření původu na nich pohřbených osob pomocí moderních přírodovědných metod – analýzy staré DNA a izotopů.The study deals with the problem of identification and localization of Anabaptist burial sites in South Moravia. The Anabaptists were an internally diverse religious current of the Reformation that emerged in the 1520s in areas with German-speaking populations. As a result of persecution by religiously major Catholic or Protestant authorities, they were migrating to Moravia since 1526. The Anabaptists differed from the local population in their ethnic origin, language, way of life, and religious beliefs. They left a distinctive and still noticeable trace in Moravian culture. Very little information is available about their burial sites, graves, funerary traditions, and human remains. In this article, we seek to summarize and confront information on the existing finds of skeletons and their inventories that might belong to one of the Anabaptist groups with historical records of their settlements or burial sites directly. Comparison and identification of burial sites are hampered by incompleteness in all sources of records. For some settlements, we have historical records of burials, but we do not have archaeological reports of skeletons found to date. There are sketchy references to skeletons found associated with other sites, but more detailed archaeological reports are not available. The clear identification of skeletal remains as belonging to Anabaptists is challenging due to indistinct and non-specific nature of the funerary practices, the confessional diversity, and the relatively short time of the Anabaptists’ stay in Moravia. The sites mentioned in the article may belong to the Anabaptists, but the certainty established with the help of laboratory methods is currently available only for the burial site in Přibice (Brno-venkov district). The inventory of potential Anabaptist burial sites compiled here can serve as a starting point for verifying the origin of the persons buried there using modern natural science methods - analysis of ancient DNA and isotopes

Primary lateral sclerosis

Primární laterální skleróza je degenerativní onemocnění postihující motoneurony v precentrální kortikální oblasti. Projevuje se progredující spastickou parézou s maximem na dolních končetinách, dále v bulbární oblasti, na trupu, méně na horních končetinách. Obtížná spastická chůze, dysartrie a dysfagie jsou charakteristické příznaky. Důležitá je diferenciální diagnostika, a to zejména vůči amyotrofické laterální skleróze, která má podstatně horší prognózu. Ovlivnění spasticity, poruch polykání, artikulace, rehabilitace jsou v popředí terapie těchto těžce postižených nemocných.Primary lateral sclerosis is a degenerative disease characterized by loss of motoneurons in precentral cortical region. Progressive spastic paresis with maximum of lower extremities, then of bulbar region, trunk and lesser of upper extremities is the most common clinical syndrome. A difficult spastic gait, dysarthria and dysphagia are characteristic symptoms. Differential diagnosis is very important, especially against amyotrophic lateral sclerosis, which has substantially worse prognosis. Decrease of spasticity, influence of dysphagia, dysarthria, and rehabilitation are most important therapeutic measures of these severly affected patients

Y-chromosomal polymorphisms in the Czech population with focus on Moravian Valachs: evolutionary anthropology study.

Aim: This study presents an evolutionary anthropology approach to the history of Moravian Valachs. The origins of Valach population are approached by evaluating the admixture event that marked the appearance of Moravian Valachs. Methods &amp; data: Focus of my Ph.D. project lies on Y-chromosomal variation, using 12 Y-STR loci haplotype to compute population genetic statistics, to infer Y-chromosomal haplogroup information and to compare Moravian Valachs to other European populations. Admixture analysis was performed. Our data set contains haplotypic information from 44 populations with the total of 4757 individuals. Moravian Valachs are presented by 94 DNA samples. Results: Our data reveal a decreased genetic variability in Moravian Valachs compared to other Central European populations. This feature is most probably caused by isolation of Valach population. Multidimensional scaling and comparison of FST distances shows Valach population as related to populations from Poland, Romania and Macedonia. Shared haplotypes and AMOVA tests place the Valachs to the Central European region. Also admixture analysis, as well as demographic and historical data, stresses the influence of autochthonous population of Moravia in the forming of Moravian Valachs. Conclusion: Moravian Valachs represent a hybrid...Cíl: Tato studie se zabývá historií moravských Valachů z hlediska evoluční antropologie. Jejím cílem je zjistit původ moravských Valachů a prozkoumat, které mateřské populace daly vzniknout charakteristické populaci moravských Valachů. Metody a materiál: Práce je zaměřena na porovnání Y chromosomálních haplotypů evropských populací s moravskými Valachy. Tyto haplotypy jsou tvořeny setem 12 Y-STR polymorfismů. Z jejich frekvencí byly vypočteny intrapopulační a interpopulační statistiky, stejně jako byly určeny Y chromosomální haploskupiny a provedena admixture analýza. Srovnávací soubor zahrnuje informace z celkově 44 evropských populací s 4757 dárci DNA. Moravští Valaši jsou zastoupeni 94 vzorky. Výsledky: Analýza genetických dat odhalila sníženou genetickou diverzitu, sníženou průměrnou genetickou diverzitu na lokus a snížené mean number of pairwise differences valašské populace ve srovnání s okolními středoevropskými populacemi. To je zřejmě způsobeno izolací valašské populace. Vícerozměrné škálování a porovnání FST párových genetických vzdáleností odhalilo, že Valaši jsou blízcí populacím z Polska, Makedonie a Rumunska. Porovnání sdílených holotypů, AMOVA, admixture analýza, stejně jako demografická a historická data, dokládají silný vliv autochtonní moravské populace na vznikající populaci...Department of Anthropology and Human GeneticsKatedra antropologie a genetiky člověkaFaculty of SciencePřírodovědecká fakult