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

Corticosteroids – therapy of the first choice?

Chronicka zanětliva demyelinizačni polyradikuloneuropatie (CIDP) je nejčastějši chronicka autoimunitni neuropatie. V patogenezi CIDP se učastni jak protilatkova, tak i buněčna imunita. Nejčastěji se vyskytuje klasicka forma, ktera se vyznačuje teměř symetrickym klinickym nalezem a multifokalnim postiženim motorickych i senzitivnich vlaken v elektrofyziologicke diagnostice. Terapie CIDP se zahajuje tzv. indukčni lečbou, a to kortikosteroidy, intravenozni aplikaci vysokych davek imunoglobulinů (IVIG) či terapeutickou plazmaferezou (TPF). Vzhledem k narokům na přistrojove vybaveni a častějšim vyskytem nežadoucich reakci u TPF se v praxi použivaji kortikoidy či IVIG pro lečbu prvni volby. IVIG ve srovnani s kortikoidy miva rychlejši a vyraznějši terapeuticky efekt, ktery však trva kratši dobu. Podani IVIG je take podstatně dražši. Nevyhodou dlouhodobe terapie kortikoidy je vyskyt nežadoucich vedlejšich učinků. Podani IVIG je indikovano jako primarni u čistě motorickych forem či forem s převahou postiženi motorickych vlaken, u nemocnych s kontraindikaci kortikoidů a u děti. Kortikosteroidy jsou primarně indikovany jako indukčni terapie u převažne časti nemocnych s CIDP. Intravenozni podani kortikoidů či opakovana bolusova peroralni terapie jsou zatižena nižšim vyskytem nežadoucich vedlejšich učinků ve srovnani s dennim peroralnim podavanim kortikoidůChronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most frequent autoimmune neuropathy. The processes participating in pathogenesis of CIDP are primarily of humoral and also cellular immunity. In CIDP, the most frequent is classical form, which is characterized by clinically nearly symmetric and electrophysiologically multifocal impairment of motor and sensory fibers. Therapy of CIDP is initiated by „induction therapy“, consisting of corticosteroids, intravenous administration of high doses of immunoglobulins (IVIG) or therapeutic plasma exchange (TPE). In view of the high demands on the equipment and of more frequent adverse reactions in TPE, the use of corticosteroids or IVIG is the therapy of the first choice. In comparison with steroids the administration of IVIG displays quicker and stronger therapeutic effects, but with shorter duration. Administration of IVIG is also noticeably more expensive. The disadvantage of long lasting steroid therapy is the occurrence of adverse effects. Administration of IVIG is indicated as a first treatment in pure motor forms or in forms with prevailing motor impairment, in patients with contraindication of steroids and in children. Intravenous administration of steroids or repeated oral bolus therapy is associated with a lower occurrence of adverse events in comparison with daily oral corticosteroid therapy

Ultrasonografie středního nervu u syndromu karpálního tunelu

Carpal tunnel syndrom is the most common mononeuropathy. The pathology relates to compression, entrapment or irritation of the median nerve within the carpal tunnel. The diagnosis may be a clinical one supported by electrophysiological findings. Ultrasonography in patients with carpal tunnel syndrome is increasingly used. Ultrasonography in patients with electrophysiologically confirmed carpal tunnel syndrome has the advantage of not only confirming structural changes characterizing the compressed median nerve, but also to find another pathology not diagnosed byl electrophysiology.Syndrom karpálního tunelu je nejčastější mononeuropatií. Patologické změny vznikají na podkladě komprese, úžiny či iritace střední nervu v karpálním tunelu. Diagnóza je stanovena na podkladě klinického nálezu a je potvrzen elektrofyziologickými nálezy. Ultrasonografie je stále častěji používána u nemocných se syndromem karpálního tunelu. Ultrasonografie u nemocných s elektrofyziologicky potvrzeným syndromem karpálního tunelu má tu přednost, že nejen potvrzuje strukturální změny charakterizující syndrom karpálního tunelu, ale také nalézá další patologické změny, které nejsou diagnostikovány elektrofyziologicky

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