Tularemie patří mezi celosvětově rozšířené zoonózy a i přes její relativně nízkou incidenci v našich podmínkách by neměla být v rámci diferenciální diagnostiky opomíjena. V popisované kazuistice bychom chtěli upozornit na klíště jako možný vektor přenosu ulceroglandulární formy tularemie u dětí a současně vyzvednout výhody metody PCR, která může být použita jako časná a spolehlivá metoda detekce obtížně kultivovatelné bakterie Francisella tularensis.

Tularaemia is a widespread zoonosis, which should be considered in differential diagnostics of lymphadenopathy despite of relatively low incidence of the disease. In the presented case we would like to point out a tick bite as a possible way of transmission of an ulceroglandular form of tularaemia in children as well as underline PCR method as an early and reliable form of detection.

• MeSH
• Anti-Bacterial Agents MeSH
• Ciprofloxacin administration & dosage   therapeutic use   MeSH
• Francisella tularensis pathogenicity   MeSH
• Humans MeSH
• Lymphadenopathy surgery   etiology   MeSH
• Tick-Borne Diseases diagnosis   drug therapy   pathology   MeSH
• Face abnormalities   surgery   pathology   MeSH
• Child, Preschool MeSH
• Tularemia * diagnosis   drug therapy   pathology   MeSH
• Zoonoses diagnosis   drug therapy   pathology   MeSH
• Check Tag
• Humans MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation.

• MeSH
• Leukemia, Lymphocytic, Chronic, B-Cell genetics   MeSH
• Humans MeSH
• Mutation * MeSH
• DNA Mutational Analysis methods   MeSH
• Peptide Fragments analysis   MeSH
• Receptor, Notch1 genetics   MeSH
• High-Throughput Nucleotide Sequencing MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Publikace poskytuje odborné veřejnosti a studentům VŠ informace o specifikách finančního řízení komerčních pojišťoven, výkonu dohledu v pojišťovnictví, zajišťovacích operacích, tvorbě a užití technických rezerv, metodách hodnocení výkonnosti pojišťoven a požadavcích směrnice Solvency II.

• MeSH
• Animal Welfare MeSH
• Physical Therapy Modalities methods   MeSH
• Equine-Assisted Therapy MeSH

• Conspectus
• Fyzioterapie. Psychoterapie. Alternativní lékařství
• NML Fields
• rehabilitační a fyzikální medicína
• rehabilitační a fyzikální medicína
• NML Publication type
• informační publikace