Publications by authors named "J Simova"
BACKGROUND Histiocytic sarcoma is a rare malignant hematopoietic neoplasm with morphologic and immunohistochemical features of histiocytic differentiation, usually with unfavorable prognosis. Despite aggressive biological behavior, in subgroup of patients with localized disease, the prognosis can be very good. Few publications are available on localized cases of histiocytic sarcoma.
View Article and Find Full Text PDFThe presence of wild-type RAS alleles, as determined by genotyping codons 12, 13, 59, 61, 117, and 146, is a prerequisite for personalized anti-EGFR treatment of metastatic colorectal cancer (mCRC) patients. Here we describe analytical validation of in-house developed massively parallel sequencing technology (MPS) in comparison to the in vitro diagnostics (IVD) certified qPCR method. DNA extracted from FFPE samples from CRC patients (n=703) and reference standards (n=33) were tested for KRAS and NRAS mutations in 6 codons of exons 2, 3, and 4 using deep amplicon sequencing (DAS) on a MiSeq benchtop sequencer (Illumina).
View Article and Find Full Text PDFObjective: The diagnosis of Bartonella henselae by polymerase chain reaction (PCR) in lymph nodes removed in 10 patients with serologically confirmed evidence cat-scratch disease.
Material And Methods: The 2015-2018 group consisted of 10 patients with serologically confirmed cat-scratch disease, all of them having positive IgG antibodies and 6 patients also positive IgM antibodies against B. henselae.
Mutations in IDH1/2 genes are a marker of good prognosis for glioma patients, associated with low grade gliomas and secondary glioblastomas. Immunohistochemistry and Sanger sequencing are current standards for IDH1/2 genotyping while many other methods exist. The aim of this study was to validate Competitive amplification of differentially melting amplicons (CADMA) PCR for IDH genotyping by comparison with SNaPshot assay and two immunohistochemical methods.
View Article and Find Full Text PDFCrohn's disease - genetic factors and progress of the disease.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
June 2018
Article Synopsis
- Crohn's disease is a complex inflammatory condition primarily affecting the gastrointestinal tract, with genetic factors, particularly mutations in the NOD2/CARD15 gene, believed to play a role in disease expression.
- A study analyzed 70 Crohn's patients to see if specific gene mutations (R702W, G908R, 3020insC) were linked to the disease's clinical characteristics, finding that 32% had at least one mutation.
- Results showed no significant differences in disease traits between those with or without mutations, though homozygotes for 3020insC were identified as a high-risk group, suggesting the mutations don't notably affect disease phenotype or reoperation rates.