Autoři uvádějí kazuistiku 41leté pacientky se subakutním vývojem kmenové a pyramidové symptomatologie a bolestí hlavy. Vývoj nálezu na magnetické rezonanci mozku odpovídal zánětlivým změnám mozkového parenchymu v oblasti kmene s rozvojem vícečetných ložiskových ischemií v této lokalizaci a v oblasti levého thalamu a zadního raménka capsula interna. V krvi a likvoru byly přítomny známky vysoké zánětlivé aktivity bez prokázaného infekčního agens. Podrobná anamnéza odhalila dlouhodobé projevy systémového postižení: recidivující orální a genitální ulcerace, postižení oční, kloubní, kožní a gastrointestinální. Je popisována diferenciální diagnóza přítomných ložiskových změn mozku, především s ohledem na nekonzistentní echokardiografické nálezy. Klinický průběh se systémovým postižením, paraklinická vyšetření a odpověď na léčbu jsou konzistentní s diagnózou Behçetovy nemoci s neurologickými komplikacemi.
The authors present a case report of a 41‑years‑old woman with subacute onset of brainstem and pyramidal symptoms, and a headache. Progression of the finding on magnetic resonance suggested brainstem parenchymal inflammation, and formation of multiple focal infarcts in the brainstem and the left thalamus and posterior branch of capsula interna. Serum and cerebrospinal fluid tests showed high inflammatory markers and no evidence of any infectious agent. Detailed history revealed long‑term systemic involvement presenting as recurrent oro‑genital ulcers accompanied with eye, joint, skin and gastrointestinal disorders. Differential diagnosis of focal brain changes is discussed, including inconsistent echocardiographic findings. The clinical course with systemic involvement, laboratory findings, and response to therapy support the diagnosis of Behçet’s disease with neurological manifestation. Key words: Behçet’s disease – meningoencephalitis – vasculitis of the central nervous system The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.
- MeSH
- Behcetův syndrom * diagnóza patofyziologie terapie MeSH
- biochemická analýza krve MeSH
- biologické markery MeSH
- cytodiagnostika MeSH
- diagnostické techniky a postupy MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- echokardiografie metody MeSH
- imunosupresiva terapeutické užití MeSH
- imunosupresivní léčba využití MeSH
- kardiovaskulární nemoci MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mozkomíšní mok cytologie MeSH
- nemoci kloubů etiologie MeSH
- oční nemoci etiologie MeSH
- příznaky a symptomy MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Fluorescence in situ hybridization (FISH) is a widely used method to localize DNA sequences on chromosomes. Out of the many uses, FISH facilitates construction of physical maps by ordering contigs of large-insert DNA clones, typically bacterial artificial chromosome (BAC) and establishing their orientation. This is important in genomic regions with low recombination frequency where genetic maps suffer from poor resolution. While BAC clones can be mapped directly by FISH in plants with small genomes, excess of repetitive DNA hampers this application in species with large genomes. Mapping single-copy sequences such as complementary DNA (cDNA) is an attractive alternative. Unfortunately, localization of single-copy sequences shorter than 10 kb remains a challenging task in plants. Here, we present a highly efficient FISH technique that enables unambiguous localization of single copy genes. We demonstrated its utility by mapping 13 out of 15 full-length cDNAs of variable length (2,127-3,400 bp), which were genetically defined to centromeric and pericentromeric regions of barley chromosome 7H. We showed that a region of 1.2 cM (0.7 %) on genetic map represented more than 40 % of the physical length of the chromosome. Surprisingly, all cDNA probes occasionally revealed hybridization signals on other chromosomes, indicating the presence of partially homologous sequences. We confirmed the order of 10 cDNA clones and suggested a different position for three cDNAs as compared to published genetic order. These results underline the need for alternative approaches such as FISH, which can resolve the order of markers in genomic regions where genetic mapping fails.
- MeSH
- chromozomy rostlin genetika MeSH
- DNA rostlinná genetika MeSH
- genetické markery MeSH
- genom rostlinný * MeSH
- hybridizace in situ fluorescenční metody MeSH
- hybridizace nukleových kyselin MeSH
- ječmen (rod) chemie genetika MeSH
- klonování DNA MeSH
- kontigové mapování metody MeSH
- sekvenční analýza DNA MeSH
- umělé bakteriální chromozomy MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Crossing over-based recombination is a powerful tool for generating new allelic combinations during sexual reproduction. It usually occurs between homologous chromosomes. However, under some conditions, homoeologues may also be capable of crossing over. Whether homologous and homoeologous crossovers are equivalent and governed by the same rules has never been established. Here we report on chromosome distribution of homoeologous crossovers in a unique system of Festuca x Lolium hybrids. Unlike in most other hybrids, in these intergeneric hybrids, homoeologous chromosomes are capable of pairing and crossing over with frequencies approaching that of homologues. At the same time, genome divergence makes cytological detection of chromosome recombination feasible. We analyzed the distribution of homoeologous recombination along individual chromosomes in a complete set of intergeneric single chromosome substitutions from F. pratensis into tetraploid L. multiflorum. Homoeologous recombination sites were not evenly distributed along the chromosomes, being concentrated in intercalary regions of the arms and reduced in proximal and distal regions. Several recombination hotspots and cold spots were found along individual chromosomes and the recombination was not affected by the presence of a secondary constriction. Our results indicate that despite the uneven distribution of homoeologous recombination, introgression of any part of the F. pratensis genome into L. multiflorum is feasible.
- MeSH
- chromozomy rostlin genetika MeSH
- crossing over (genetika) MeSH
- druhová specificita MeSH
- Festuca genetika MeSH
- geneticky modifikované rostliny MeSH
- genom rostlinný MeSH
- hybridizace genetická MeSH
- hybridizace in situ fluorescenční MeSH
- jílek genetika MeSH
- karyotypizace MeSH
- rekombinace genetická MeSH
- telomery genetika MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The large bread wheat genome (1C approximately 17 Gbp) contains a preponderance of repetitive DNA and the species is polyploid. These characteristics together serve to hamper the molecular analysis of the wheat genome. Its complexity can, however, be reduced by using flow cytometry to isolate individual chromosomes, and these can be exploited to construct chromosome-specific BAC libraries. Such libraries simplify the task of physical map construction, positional cloning and the targeted development of genetic markers. Rapid improvements in the efficiency and cost of DNA sequencing provide an opportunity to contemplate sequencing the wheat genome by preparing sequence-ready physical maps for each chromosome or chromosome arm in turn. The quality of the chromosome-specific libraries depends on their chromosome coverage and the mean insert size. First-generation libraries suffered from a relatively low mean insert size, but improvements to the protocol have generated a second wave of libraries with a significantly increased mean insert size and better chromosome coverage. Each chromosome (arm)-specific library is composed of a manageable number of clones, and so represents a practical tool in the area of wheat genomics.
- MeSH
- chromozomy rostlin genetika MeSH
- DNA rostlinná genetika MeSH
- fyzikální mapování chromozomů MeSH
- genetické markery MeSH
- genom rostlinný MeSH
- genomika MeSH
- genová knihovna MeSH
- hybridizace in situ fluorescenční MeSH
- polyploidie MeSH
- průtoková cytometrie MeSH
- pšenice genetika MeSH
- umělé bakteriální chromozomy genetika MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- MeSH
- apoptóza MeSH
- buněčný cyklus fyziologie účinky léků MeSH
- finanční podpora výzkumu jako téma MeSH
- glioblastom patologie MeSH
- hypoglykemika farmakologie MeSH
- hypolipidemika farmakologie MeSH
- lidé MeSH
- nádory mozku patologie MeSH
- receptory cytoplazmatické a nukleární agonisté MeSH
- Check Tag
- lidé MeSH
