Publications by authors named "N Dvorackova"

Purpose: Transcranial sonography (TCS) magnetic resonance (MR) fusion imaging and digital image analysis are useful tools for the evaluation of various brain pathologies. This study aimed to compare the echogenicity of predefined brain structures in Huntington's disease (HD) patients and healthy controls by TCS-MR fusion imaging using Virtual Navigator and digitized image analysis.

Materials And Methods: The echogenicity of the caudate nucleus (CN), substantia nigra (SN), lentiform nucleus (LN), insula, and brainstem raphe (BR) evaluated by TCS-MR fusion imaging using digitized image analysis was compared between 21 HD patients and 23 healthy controls.

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Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger sequencing of all coding exons and adjacent intron regions of the ALT1 gene in 111 Czech patients with pure form of HSP and additional Multiplex-Ligation Probe Analysis (MLPA) testing targeting the ATL1 gene in 56 of them.

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Introduction: One of the diseases involving a potential risk of developing chronic pancreatitis is acute pancreatitis.

Material: Of the overall number of 231 individuals followed with a diagnosis of chronic pancreatitis, 56 patients were initially treated for acute pancreatitis (24.2 %).

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Aims: A germline SNP (rs61764370) is located in a let-7 complementary site (LCS6) in the 3'UTR of KRAS oncogene, and it was found to alter the binding capability of the mature let-7 microRNA to the KRAS mRNA. The aim of the study was to evaluate the frequency of the KRAS-LCS6 variant allele in different cancer types that included patients with colorectal cancer (CRC), breast cancer (BC), non-small cell lung cancer (NSCLC) and brain tumour patient subgroups from the Czech Republic. The occurrence of this genetic variant was correlated with the presence of selected somatic mutations representing predictive biomarkers in the respective tumours.

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