A5048481697- Multiple Myeloma Research and Treatments
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Glycosylation and Glycoproteins Research
- Genetics and Neurodevelopmental Disorders
- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Protein Degradation and Inhibitors
- Microtubule and mitosis dynamics
- Prenatal Screening and Diagnostics
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chronic Lymphocytic Leukemia Research
- Monoclonal and Polyclonal Antibodies Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genetic factors in colorectal cancer
- Hematological disorders and diagnostics
- Cervical Cancer and HPV Research
- Chronic Myeloid Leukemia Treatments
- Congenital heart defects research
- Virology and Viral Diseases
- Hepatitis B Virus Studies
- Chromatin Remodeling and Cancer
- Vaccine Coverage and Hesitancy
- RNA and protein synthesis mechanisms
Masaryk University
2014-2024
Brno University of Technology
2022
University of Defence
2018-2020
University Hospital Brno
2014-2019
T. G. Masaryk Water Research Institute
2015
IVI Madrid Clinic
2013
Monoclonal gammopathy of undetermined significance is a pre-malignant precursor multiple myeloma with 1% risk progression per year. Although targeted analyses have shown the presence specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS gene mutations, little known about molecular mechanism malignant transformation. We performed whole exome sequencing together comparative genomic hybridization plus single nucleotide polymorphism array analysis...
In adults aged ≥60 years, two doses of the herpes zoster subunit vaccine (HZ/su; 50 µg varicella-zoster virus glycoprotein E [gE] and AS01B Adjuvant System) elicited humoral cell-mediated immune responses persisting for at least six years. We assessed immunogenicity nine years post-initial vaccination.This open extension study (NCT02735915) followed 70 participants who received HZ/su in initial trial (NCT00434577). Blood samples to assess cellular (intracellular cytokine staining) (ELISA)...
Abstract Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality intellectual and social abilities common daily functioning. The rapid development exome sequencing (ES) techniques, together trio-based analysis, nowadays leads to up 50% diagnostic yield. Therefore, it is considered as state-of-the-art approach in these diagnoses. Results In our...
The prognostic significance of 1q21 gain, del(13)(q14), del(17)(p13), t(4;14)(p16.3;q32), and t(11;14)(q13;q32) detected by interphase fluorescein in situ hybridization (FISH) was studied a cohort 91 patients with newly diagnosed multiple myeloma (MM). gain 37 (40.7%). In comparison lacking had significantly shorter progression-free survival (PFS) (14.9 versus 27.4 months; P = .044) worse 4-year overall (OS) (40.1% 76.2% patients; <.001). PFS or OS were not influenced the presence absence...
The adjuvanted recombinant zoster vaccine (RZV) is highly immunogenic and efficacious in adults ≥50 years of age. We evaluated (1) long-term immunogenicity an initial 2-dose RZV schedule, by following up vaccinated at ≥60 age modeling, (2) 2 additional doses administered 10 after vaccination.Persistence humoral cell-mediated immune (CMI) responses to was assessed through vaccination, modeled 20 using a Piecewise, Power law Fraser model. safety were also evaluated.Seventy enrolled. Ten CMI...
Abstract Monoclonal gammopathy of undetermined significance ( MGUS ) is a benign condition with an approximate 1% annual risk symptomatic plasma cell disorder development, mostly to multiple myeloma MM ). We performed genomewide screening copy‐number alterations CNA s) in 90 and 33 patients using high‐density DNA microarrays. identified s smaller proportion (65.6%) than (100.0%, P = 1.31 × 10 −5 showed median number lower (3, range 0–22) (13, 4–38, 1.82 −10 In the cohort, most frequent...
Characteristic recurrent copy number aberrations (CNAs) play a key role in multiple myeloma (MM) pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH) provides powerful tool genome-wide classification of CNAs thus should be implemented into routine diagnostics. We demonstrate the possibility effective utilization oligonucleotide-based aCGH 91 Chromosomal associated with effect on prognosis were initially evaluated by...
Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare among multiple myeloma (MM) patients, its presence karyotype associated with prognosis.In our case, we report 62 year female patient rapid progression into extramedullary disease and short overall survival (OS = 23 months). I-FISH investigation revealed gain 1q21 hyperdiploidy (+ 5,+ 9,+ 15) 82% 86%, respectively,...
Malignant plasma cells in multiple myeloma (MM) are frequently characterized by complex karyotypes and chromosome instability. These cytogenetic changes considered important prognostic indicators MM patients. We have studied samples from 68 patients with newly diagnosed who were treated high-dose chemotherapy autologous stem cell transplantation. G-banding revealed abnormal 14 of 55 (25%) had informative conventional cytogenetics. The combination cytoplasmic immunoglobulin light chain...
De novo sequence variants, including truncating and splicing in the additional sex‑combs like 3 gene (ASXL3) have been described as cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia facial dimorphism. The present study reports a case girl (born 2013) with global developmental central hypotonia, microcephaly poor speech. proband was examined using multi‑step molecular...
Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability developmental delay (ID/DD). In our study, we performed array-based comparative genomic hybridization (array-CGH) using oligonucleotide-based platforms 542 Czech patients ID/DD, autism spectrum disorders multiple congenital abnormalities. Prior the array-CGH analysis, all were first examined karyotypically G-banding. The...
It is known that cervical cancer develop from precancerous intraepithelial neoplasia (CIN) which characterized by series of genetic abnormalities.The progression CIN to carcinoma has been associated especially with the genomic integration oncogenic human papilloma virus (HPV) and gain telomerase RNA gene hTERC (3q26) MYC (8q24).In this study, cytology specimens 74 Czech women were analyzed using triple-color Cervical FISH Probe Kit designed for identification HPV infected cells copy number...
Pathogenic variants affecting the <em>BLM</em> gene are responsible for manifestation of extremely rare cancer‑predisposing Bloom syndrome. The present study reports on a case an infant with congenital hypotrophy, short stature and abnormal facial appearance. Initially she was examined using routine molecular diagnostic algorithm, including cytogenetic analysis her karyotype, microarray methylation‑specific MLPA, however, remained undiagnosed level. Therefore, parents were enrolled in...
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion associated Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It thought that ATS-ID caused the loss of function COL4A5 (ATS) FACL4 (ACSL4) genes through interstitial (micro)deletion chromosomal band Xq22.3. We report detailed phenotypic description results from...
Oncogenic mutations in proto-oncogenes and tumor suppressor genes represent one of key events cancerogenesis. In this study, we analysed mutation status PIK3CA, KRAS EGFR TP53 gene a cohort twenty-four patients diagnosed with squamous cell carcinoma or adenocarcinoma using the screening method "High Resolution Melting" (HRM). Positive findings were confirmed identified by Sanger sequencing. Totally, detected DNA sequence changes targeted regions seven (7/24, 29.2%). PIK3CA gene, found six...
Multiple myeloma (MM) is an incurable malignant disease of the terminal developmental stage B-lymphocytes. While genetic heterogeneity MM widely described, little known about its basis as well primary damage during plasma cells (PC) development. In this study, we focused on genome-wide screening DNA copy number changes using oligonucleotide-based array-CGH together with I-FISH IgH locus rearrangements in pair samples bone marrow B-cells (CD19+) and CD138+ PC from newly diagnosed patients....