U pacientů s roztroušenou sklerózou se neurologický deficit projevuje širokým spektrem klinických obtíží, včetně mikčních dysfunkcí. Infekce močových cest zhoršují kvalitu života pacientů a mohou významně ovlivnit průběh onemocnění. V článku je uveden přehled současných možností léčby dysfunkcí močových cest nejenom u pacientů s RS. Zmíněna je i léčba a prevence uroinfekcí a problematika sexuálních dysfunkcí.
In patients with multiple sclerosis the neurological deficit is manifested by a wide spectrum of clinical symptoms, including voiding dysfunction. Urinary tract infections worsen patients ́ quality of life and can significantly affect the course of the disease. This article presents an overview of current treatment options of urinary tract dysfunctions. Moreover, treatment and prevention of urinary tract infections and the area of sexual dysfunctions are also mentioned.
OBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. The aims of this study were to identify causal variants for DEE in patients for whom the previous examination with a gene panel did not determine their genetic diagnosis. It also aims for a detailed description and broadening of the phenotypic spectrum of several rare DEEs. METHODS: In the last five years (2015-2020), 141 patients from all over the Czech Republic were referred to our department for genetic testing in association with their diagnosis of epilepsy. All patients underwent custom-designed gene panel testing prior to enrolment into the study, and their results were inconclusive. We opted for whole exome sequencing (WES) to identify the cause of their disorder. If a causal or potentially causal variant was identified, we performed a detailed clinical evaluation and phenotype-genotype correlation study to better describe the specific rare subtypes. RESULTS: Explanatory causative variants were detected in 20 patients (14%), likely pathogenic variants that explain the epilepsy in 5 patients (3.5%) and likely pathogenic variants that do not fully explain the epilepsy in 11 patients (7.5%), and variants in candidate genes in 4 patients (3%). Variants were mostly de novo 29/40 (72.5%). SIGNIFICANCE: WES enables us to identify the cause of the disease in additional patients, even after gene panel testing. It is very important to perform a WES in DEE patients as soon as possible, since it will spare the patients and their families many years of a diagnostic odyssey. In particular, patients with rare epilepsies might significantly benefit from this approach, and we propose using WES as a new standard in the diagnosis of DEE instead of targeted gene panel testing.
- MeSH
- epilepsie generalizovaná * genetika MeSH
- epilepsie * diagnóza genetika MeSH
- fenotyp MeSH
- genetické asociační studie MeSH
- genetické testování MeSH
- lidé MeSH
- sekvenování exomu MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Biallelic variants in the SLC1A4 gene have been so far identified as a very rare cause of neurodevelopmental disorders with or without epilepsy and almost exclusively described in the Ashkenazi-Jewish population. PATIENTS AND METHODS: Here we present Czech patient with microcephaly, severe global developmental delay and intractable seizures whose condition remained undiagnosed despite access to clinical experience and standard diagnostic methods including examination with an epilepsy targeted NGS gene panel. RESULTS: Whole exome sequencing revealed a novel variant NM_003038.4:c.1370G > A p.(Arg457Gln) of the SLC1A4 gene in a homozygous state in the patient, and afterwards Sanger sequencing in both parents confirmed the biallelic origin of the variant. A variant in the same codon, but with a different amino acid exchange, was described previously in a patient that had a very similar phenotype, however, without epilepsy. CONCLUSION: Our data suggest that the SLC1A4 gene should be considered in the diagnosis of patients with severe, early onset neurodevelopmental impairment with epilepsy and encourage the analysis of SLC1A4 gene variants via targeted NGS gene panel or whole exome sequencing.
- MeSH
- dítě MeSH
- homozygot MeSH
- lidé MeSH
- mikrocefalie genetika patologie MeSH
- mutace MeSH
- neurovývojové poruchy genetika patologie MeSH
- transportní systém ASC pro aminokyseliny genetika MeSH
- záchvaty genetika patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- fenotyp MeSH
- genetické asociační studie MeSH
- heterozygot MeSH
- lidé MeSH
- missense mutace * MeSH
- nemoci mozku * MeSH
- proteiny 14-3-3 genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- dopisy MeSH
- komentáře MeSH
- práce podpořená grantem MeSH
INTRODUCTION: Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. METHODS AND RESULTS: Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) in the UBTF gene. This variant was recently described as de novo in 11 patients with similar neurodegeneration characterized by developmental decline initially confined to motor development followed by language regression, appearance of an extrapyramidal movement disorder, and leading to severe intellectual disability. In 3 of the 11 patients described so far, seizures were also present. CONCLUSIONS: Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy.
- MeSH
- fenotyp * MeSH
- lidé MeSH
- mladiství MeSH
- mutace genetika MeSH
- neurodegenerativní nemoci komplikace diagnostické zobrazování genetika MeSH
- refrakterní epilepsie komplikace diagnostické zobrazování genetika MeSH
- transkripční iniciační komplex Pol1 - proteiny genetika MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Kazuistika se týká doposud zdravého 3,5letého chlapce, u něhož běžná nákaza rotaviry mělazávažný průběh s nutností volání RZP, hospitalizace a třídenní infuzní rehydratační léčby.
The case report describes so far healthy 3.5-year-old boy, who had a severe course of commonrotavirus infection, which demanded transport by emergency ambulance, hospitalizationand three days lasting intravenous rehydration.
- MeSH
- dehydratace terapie MeSH
- dítě MeSH
- lidé MeSH
- průjem virologie MeSH
- rehydratační roztoky terapeutické užití MeSH
- rotavirové infekce * diagnóza farmakoterapie komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVE: Heat shock proteins (Hsps) have been repeatedly implicated in the pathogenesis of rheumatoid arthritis (RA). The aim of this work was to study Hsp mRNA and protein levels to determine whether they can be used to differentiate between RA, osteoarthritis (OA), and healthy controls. METHODS: Hsp27, Hsp60, Hsp70, Hsp90α, and HspBP1 mRNA expression was analysed using real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) in 24 RA, 11 OA, and 21 healthy controls. Hsp70 and HspBP1 protein levels were measured in serum using an enzyme-linked immunosorbent assay (ELISA). RESULTS: Hsp gene expression profiles differ significantly between inflammatory (RA) and non-inflammatory (OA) joint diseases, showing significantly increased Hsp27 and Hsp90α mRNA levels in RA synovial tissues. Up-regulated Hsp60 and Hsp90α together with down-regulated Hsp70 and elevated HspBP1/Hsp70 mRNA ratios can be used to differentiate between RA patients and healthy individuals through analysis of peripheral blood samples. Despite increased HspBP1 levels in RA sera, Hsp70 levels and the HspBP1/Hsp70 protein ratio remained identical in the RA patients and healthy individuals, which may contribute to the inhibition of Hsp70 anti-apoptotic activity. CONCLUSION: Hsp gene expression analysis can be implemented as a new diagnostic approach to facilitate differentiation between RA, OA, and healthy controls.
- MeSH
- diferenciální diagnóza MeSH
- down regulace MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- osteoartróza diagnóza genetika MeSH
- proteiny teplotního šoku genetika MeSH
- revmatoidní artritida diagnóza genetika MeSH
- senioři MeSH
- stanovení celkové genové exprese MeSH
- synoviální membrána metabolismus MeSH
- upregulace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Heat shock proteins (Hsps) have been repeatedly implicated to participate in the pathogenesis of rheumatoid arthritis (RA). METHODS: Herein, Hsp70 cell surface and mRNA expression were studied in human fibroblast-like synovial cells, dermal fibroblasts and peripheral blood leukocytes derived from 24 RA patients, who underwent synovectomy by using flow-cytometric analysis and real-time quantitative reverse-transcriptase polymerase chain reaction. For comparison, peripheral blood leukocytes of 17 healthy controls were tested. RESULTS: Significantly higher Hsp70 membrane positivity was found on fibroblast-like synovial cells in RA patients (average 18.3%, median 16.5%) than on autologous and healthy control peripheral blood lymphocytes (RA patients: average 4.7%, median 2.9%, p = 0.002; healthy controls: average 6.0%, median 4.5%, p = 0.002) and/or autologous dermal fibroblasts (average 5.1%, median 4.3%, p < 0.001). Strong Hsp70 cell surface expression was also found on peripheral blood monocytes of RA patients (average 53.0%, median 58.1%) and healthy controls (average 49.4%, median 47.5%, p = 0.52). Peripheral blood granulocytes of healthy controls (average 41.8%, median 41.4%) showed significantly increased Hsp70 expression comparing with RA patients (average 10.7%, median 6.4%, p = 0.005). Significantly higher Hsp70 gene expression was observed in synovial cells of RA patients (average 2.04, median 1.7) when compared with autologous peripheral blood leukocytes (average 0.75, median 0.68; p < 0.001). However, the difference in Hsp70 gene expression between RA-derived synovial cells and healthy control peripheral blood leukocytes (average 1.69, median 1.64) was not observed (p = 0.83). We also found significantly lower relative gene expression in peripheral blood leukocytes of RA patients in comparison with healthy controls (p < 0.001). Interestingly, we found that Hsp70 gene expression in RA non-affected skin dermis gained from the operation wound was 3.7-fold higher in average (average 7.6, median 8.3) when compared to autologous RA-affected synovial tissue (p < 0.001); 10.1-fold higher in average when compared to autologous peripheral blood leukocytes (p < 0.001) and 4.5-fold higher in average comparing to control peripheral blood leukocytes (p < 0.001). CONCLUSION: Hsp70 gene expression in RA-affected synovial tissue is followed by Hsp70 cell surface expression on fibroblast-like synovial cells growing from RA synovial tissue. Hsp70 may be translocated to the cell surface from the cytosol and/or Hsp70 released from inflamed synovial tissue may be captured onto the membrane of synovial cells from the extracellular space via Hsp receptors. As a physiological response to potentially harmful enviromental stress factors, skin dermis produces higher levels of Hsp70 comparing to the cells of internal organs and tissues.
- MeSH
- buněčná membrána metabolismus MeSH
- dospělí MeSH
- fibroblasty metabolismus MeSH
- financování organizované MeSH
- kůže cytologie metabolismus MeSH
- leukocyty mononukleární metabolismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- messenger RNA genetika metabolismus MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- proteiny tepelného šoku HSP70 metabolismus MeSH
- průtoková cytometrie MeSH
- revmatoidní artritida imunologie metabolismus patofyziologie MeSH
- senioři MeSH
- škára cytologie metabolismus MeSH
- synoviální membrána cytologie metabolismus MeSH
- synoviální tekutina cytologie metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
Bartonely nabývají v současnosti na významu jako původci infekcí zvířat a člověka . Nejčastěji z nich diagnostikovaná Bartonella henseJae je známa jako původce řady klinických syndromů u imunokompetentních i imunokompromitovaných pacientů. U zdravých jedinců je nejčastějším projevem infekce tzv. nemoc z kočičího škrábnutí. Nemoc se projevuje erytémem či papulou v místě vstupu infekce (místě poranění) a regionální lymfadenitidou. Naším příspěvkem formou kazuistiky chceme upozornit na toto onemocněni jako jednu z možných příčin kolikvující krční lymfadenitidy.
At present, Bartonella species are increasingly important as infectious agents in both animals and humans. Bartonella henselae, the most frequently diagnosed species, is known to cause numerous clinical syndromes in both immunocompetent and immunocompromised patients. In healthy individuals, the infection is most commonly manifested as the so-called cat scratch disease. The manifestations include erythema or papule at the point of entry of infection (site of injury) and regional lymphadenitis. The aim of the case report is to present the disease as one of possible causes of colliquative cervical lymphadenitis.
