Tato kazuistika popisuje léčbu pacienta s relabující-remitující formou roztroušené sklerózy (RR-RS), který zároveň trpí Crohnovou nemocí. Po počáteční terapii glatiramer-acetátem a interferonem beta-1a došlo u pacienta k pokračující aktivitě onemocnění, která si vyžádala změnu léčby. S ohledem na potřebu vysoce účinné terapie a pacientovu preferenci méně častých návštěv zdravotnického zařízení byla v dubnu 2022 zahájena léčba ponesimodem. Po více než dvouleté léčbě pacient zůstává klinicky stabilní, bez nových atak či progrese nemoci, a Crohnova nemoc je v remisi. Pacient dobře toleruje léčbu a vede plnohodnotný život, což potvrzuje účinnost a bezpečnost ponesimodu jako vhodné volby pro pacienty s aktivní RS a komorbiditami.
This case report describes the treatment of a patient with relapsing-remitting multiple sclerosis (RR-RS) who also suffers from Crohn's disease. After initial therapy with glatiramer acetate and interferon beta-1a, the patient had ongoing disease activity that required a change in treatment. Considering the need for highly effective therapy and the patient's preference for less frequent visits to the medical facility, treatment with ponesimod was started in April 2022. After more than two years of treatment, the patient remains clinically stable, without new relapses or disease progression, and Crohn's disease is in remission. The patient tolerates the treatment well and leads a full life, which confirms the efficacy and safety of ponesimod as a suitable choice for patients with active MS and comorbidities.
- Klíčová slova
- ponesimod,
- MeSH
- Crohnova nemoc diagnóza farmakoterapie MeSH
- demyelinizační nemoci diagnostické zobrazování MeSH
- dospělí MeSH
- kvalita života MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- progrese nemoci MeSH
- receptory sfingosin-1-fosfátu * antagonisté a inhibitory terapeutické užití MeSH
- relabující-remitující roztroušená skleróza * diagnóza farmakoterapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Cieľ: Včasné rozpoznanie sclerosis multiplex (SM) pomáha začať liečbu pacientov skôr, a tak oddialiť progresiu ochorenia. Urobili sme analýzu metabolitov cerebro-spinálneho likvoru (cerebrospinal fluid; CSF), s cieľom zistiť prediktory včas, a tak oddialiť SM. Metódy: Do štúdie bolo zaradených 56 jedincov s podozrením na SM, pred začatím akejkoľvek liečby. Z nich bolo 28 diagnostikovaných ako definitívna SM, u 17 pacientov sme zistili klinicky izolovaný syndróm (clinically isolated syndrome; CIS) podľa McDonaldových kritérií z roku 2010, v 11 prípadoch sa jednalo o iné demyelinizačné ochorenie CNS (DEM). Kontrolnú skupinu (CON) tvorili 29 jedinci, ktorí nemali dokázané žiadne ochorenie CNS. Na meranie metabolitov CSF bola použitá protonová nukleárna magnetická rezonančná spektroskopia. Výsledky: Glutamín, ktorý koreloval s Expanded Disability Status Scale (EDSS), bol jediným metabolitom, ktorý dokázal odlíšiť CIS, SM, DEM a CON. Valín, leucín, isoleucín, znížené u CIS a SM v porovnaní s CON, sa neodlišovali od DEM. Hladiny citrátu v CSF špecifikovali SM a CIS oproti DEM, ale nepomohli v rozlíšení CIS a SM. Citrát ukazoval signifikantné korelácie s vekom, dľžkou trvania ochorenia a EDSS u SM pacientov. Acetát, aceton, pyruvát, formát, histidin v CSF neboli signifikantnými prediktormi SM alebo CIS, hoci korelovali s niektorými vybranými premennými. Záver: Táto práca ukazuje prediktívnu úlohu glutamínu v CSF v stanovení diagnózy SM od jej včasných štádií, vypichujúc tak dôležitú úlohu glutamát/glutamínového cyklu v patogenéze SM. Ďalší potenciálny prediktor SM bol citrát. Ďalšie metabolity neboli identifikované ako senzitívne CSF markery SM.
Aim: Early recognition of multiple sclerosis (MS) allows patients to begin treatment earlier and delay disease progression. We performed an analysis of cerebrospinal fluid (CSF) metabolites to find early predictors of MS. Methods: We included 56 participants with suspected MS before any treatment. Out of those, 28 patients were diagnosed with definite MS, 17 with clinically isolated syndrome (CIS) according to McDonald 2010 criteria, and 11 with other demyelinating diseases (DEM) of the CNS. The control group (CON) included 29 participants without any confirmed CNS disease. Proton nuclear magnetic resonance spectroscopy was used to measure CSF metabolites. Results: Glutamine, correlating with Expanded Disability Status Scale (EDSS), was the only metabolite capable to distinguish between CIS and MS, DEM, and CON. Valine, leucine, isoleucine, decreased in CIS and MS when compared with CON, did not differ from DEM. Citrate CSF levels specified MS and CIS against DEM but did not help to distinguish between CIS and MS. Citrate showed significant correlations with age, disease duration, and EDSS in MS patients. Acetate, acetone, pyruvate, formate and histidine CSF levels were not significant predictors of MS or CIS, although they correlated with selective variables. Conclusion: This work shows the predictive role of CSF glutamine in diagnosing MS since its early stages, pinpointing an important role of the glutamate/glutamine cycle in MS pathogenesis. Another potential predictor of MS was citrate. Other metabolites were not identified as sensitive CSF markers of MS.
- MeSH
- demyelinizační nemoci diagnostické zobrazování MeSH
- klinická studie jako téma MeSH
- lidé MeSH
- magnetická rezonanční spektroskopie metody MeSH
- metabolomika MeSH
- mozkomíšní mok diagnostické zobrazování MeSH
- roztroušená skleróza * diagnóza MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
BACKGROUND: Structural cortical networks (SCNs) represent patterns of coordinated morphological modifications in cortical areas, and they present the advantage of being extracted from previously acquired clinical magnetic resonance imaging (MRI) scans. SCNs have shown pathophysiological changes in many brain disorders, including multiple sclerosis. OBJECTIVE: To investigate alterations of SCNs at the individual level in patients with clinically isolated syndrome (CIS), thereby assessing their clinical relevance. METHODS: We analyzed baseline data collected in a prospective multicenter (MAGNIMS) study. CIS patients (n = 60) and healthy controls (n = 38) underwent high-resolution 3T MRI. Measures of disability and cognitive processing were obtained for patients. Single-subject SCNs were extracted from brain 3D-T1 weighted sequences; global and local network parameters were computed. RESULTS: Compared to healthy controls, CIS patients showed altered small-world topology, an efficient network organization combining dense local clustering with relatively few long-distance connections. These disruptions were worse for patients with higher lesion load and worse cognitive processing speed. Alterations of centrality measures and clustering of connections were observed in specific cortical areas in CIS patients when compared with healthy controls. CONCLUSION: Our study indicates that SCNs can be used to demonstrate clinically relevant alterations of connectivity in CIS.
- MeSH
- demyelinizační nemoci * diagnostické zobrazování MeSH
- kognice MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mozek diagnostické zobrazování MeSH
- nervové dráhy diagnostické zobrazování MeSH
- prospektivní studie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
BACKGROUND: Multiple sclerosis (MS) begins with an acute clinical attack (clinically isolated syndrome) in approximately 85% of patients. The conversion rate from clinically isolated syndrome to multiple sclerosis has been documented at 30% to 82% in previous studies. When an individual presents for evaluation after a single episode of inflammation of the CNS, several decisions regarding follow-up in subsequent years need to be made, including that of whether or not to start a therapy. There is, therefore, an emerging need to identify the predictive factors that anticipate conversion from CIS to MS. METHODS: This paper presents a single-center prospective longitudinal study aimed at identification of the most powerful independent predictors for conversion from CIS to MS, utilizing the 2010 McDonald MS criteria and focusing on selected demographic, clinical, radiographical (magnetic resonance imaging - MRI), cerebrospinal fluid (predominantly oligoclonal bands - OCB) and electrophysiological parameters (multimodal sensory and motor-evoked potentials - EP). Two independent outcomes meeting MS criteria are evaluated: development of second clinical relapse (clinically definite multiple sclerosis) and progression in magnetic resonance imaging (based on new MRI T2 brain and/or spinal cord lesions). CIS patients were followed clinically and MRI was repeated at one and two years within the course of a follow-up period of at least 24 months (median 27, range 24-36 months). RESULTS: Of the 64 CIS patients enrolled who completed at least a 2-year follow-up period (42 women and 22 men, median age 36.5, range 22-66 years), 45 (70.3%) (29 women and 16 men, median age 38; range 22-66 years) fulfilled the 2010 McDonald criteria for MS by dissemination in space (DIS) and time (DIT) over the follow-up period. Twenty-nine CIS patients converted to MS through a clinically symptomatic attack, and 16 CIS patients developed new T2 lesions on MRI, while 19 patients without progression remained stable as CIS. Confirmed among potential predictors for the conversion of CIS patients to MS were increased (>10) baseline MRI T2-hyperintense lesions (odds ratio (OR) 3.107, p = 0.046), OCB positivity (OR 5.958, p = 0.003) and subclinical EP abnormality (OR 14.400, p = 0.003). Multivariate statistical models (logistic regression and Cox proportional hazards regression models) confirmed these parameters as independent predictors of high sensitivity (84%) and acceptable specificity (63%). CONCLUSION: In addition to accepted predictors for the conversion of CIS to MS (i.e. baseline MRI T2 lesion load and OCB positivity), already implemented in current diagnostic criteria for MS, this study demonstrates, in addition, the high predictive value of subclinical multimodal evoked potential abnormalities.
- MeSH
- demyelinizační nemoci * diagnostické zobrazování epidemiologie MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- longitudinální studie MeSH
- magnetická rezonanční tomografie MeSH
- mladý dospělý MeSH
- následné studie MeSH
- oligoklonální proužky MeSH
- progrese nemoci MeSH
- prospektivní studie MeSH
- roztroušená skleróza * diagnostické zobrazování epidemiologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Naša kazuistika opisuje prípad pacientky s nerozpoznanou obrovskobunkovou arteritídou, ktorá bola dlhé roky nastavená na správnu terapiu pri chybnej diagnóze. Pacientka 12 rokov opisovala polymorfné ťažkosti, absolvovala rôzne paraklinické vyšetrenia, na základe ktorých mala stanovenú nesprávnu diagnózu. V kazuistike poukazujeme na rozmanitý klinický obraz systémovej vaskulitídy, ktorá môže pri zlej interpretácii výsledkov imitovať iné ochorenia.
The present case report describes a female patient with unrecognized giant-cell arteritis who had been receiving appropriate treatment for years despite misdiagnosis. The patient had complained of polymorphous symptoms for twelve years and undergone various paraclinical tests based on which she received an incorrect diagnosis. Our case report aims to highlight the varied clinical presentation of systemic vasculitis which, when the results are misinterpreted, can mimic other diseases.
- MeSH
- chybná diagnóza MeSH
- demyelinizační nemoci diagnostické zobrazování farmakoterapie MeSH
- diferenciální diagnóza MeSH
- glukokortikoidy aplikace a dávkování terapeutické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- mozkomíšní mok chemie MeSH
- obrovskobuněčná arteritida * diagnóza farmakoterapie MeSH
- vaskulitida diagnóza terapie MeSH
- zánět zrakového nervu MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- autoprotilátky MeSH
- bílá hmota diagnostické zobrazování MeSH
- demyelinizační nemoci * diagnostické zobrazování diagnóza imunologie MeSH
- dítě MeSH
- glykoprotein v myelinu oligodendrocytů imunologie MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- prospektivní studie MeSH
- roztroušená skleróza * diagnostické zobrazování diagnóza imunologie MeSH
- zobrazování difuzních tenzorů MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
Aeskulap
První vydání 286 stran : ilustrace, tabulky ; 24 cm
Kniha seznamuje čtenáře s konceptem dlouhodobé stabilizace onemocnění (disease free concept), NEDA 3 (no evidence of disease activity), NEDA 4, kde je hodnocení magnetické rezonance nálezu jejich součástí. Nakladatelská anotace. Kráceno
BACKGROUND: Neuropsychiatric symptoms and reduced health-related quality of life (HRQoL) are frequent in multiple sclerosis, where are associated with structural brain changes, but have been less studied in clinically isolated syndrome (CIS). OBJECTIVE: To characterize HRQoL, neuropsychiatric symptoms (depressive symptoms, anxiety, apathy and fatigue), their interrelations and associations with structural brain changes in CIS. METHODS: Patients with CIS (n = 67) and demographically matched healthy controls (n = 46) underwent neurological and psychological examinations including assessment of HRQoL, neuropsychiatric symptoms and cognitive functioning, and MRI brain scan with global, regional and lesion load volume measurement. RESULTS: The CIS group had more, mostly mild, depressive symptoms and anxiety, and lower HRQoL physical and social subscores (p≤0.037). Neuropsychiatric symptoms were associated with most HRQoL subscores (β≤-0.34, p≤0.005). Cognitive functioning unlike clinical disability was associated with depressive symptoms and lower HRQoL emotional subscores (β≤-0.29, p≤0.019). Depressive symptoms and apathy were associated with right temporal, left insular and right occipital lesion load (ß≥0.29, p≤0.032). Anxiety was associated with lower white matter volume (ß = -0.25, p = 0.045). CONCLUSION: Mild depressive symptoms and anxiety with decreased HRQoL are present in patients with CIS. Neuropsychiatric symptoms contributing to decreased HRQoL are the result of structural brain changes and require complex therapeutic approach in patients with CIS.
- MeSH
- apatie fyziologie MeSH
- bílá hmota diagnostické zobrazování patologie MeSH
- demyelinizační nemoci komplikace diagnostické zobrazování patologie psychologie MeSH
- deprese komplikace diagnostické zobrazování patologie psychologie MeSH
- dospělí MeSH
- kvalita života * MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mladý dospělý MeSH
- mozek diagnostické zobrazování patologie MeSH
- neuropsychologické testy MeSH
- posuzování pracovní neschopnosti MeSH
- průzkumy a dotazníky MeSH
- únava komplikace diagnostické zobrazování patologie psychologie MeSH
- úzkost komplikace diagnostické zobrazování patologie psychologie MeSH
- velikost orgánu MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Patients with clinically isolated syndrome (CIS), unlike those with multiple sclerosis (MS), have a selective cognitive impairment which is not consistently related to structural brain changes. Our objective was to characterize a profile of cognitive impairment and its association with structural brain changes in patients with CIS who are at high risk of developing MS. Patients with CIS at high risk for MS on interferon-beta (n = 51) and age-, gender-, and education-matched controls (n = 44) underwent comprehensive neuropsychological testing and MRI brain scan with voxel-based morphometry. The CIS group had lower cognitive performance in verbal and nonverbal memory, information processing speed/attention/working memory, and executive and visuo-spatial functions compared to controls (p ≤ 0.040). Lower cognitive performance was present in 18-37 and 14-26% of patients with CIS at high risk for MS depending on the criteria used. Brain volume was reduced predominantly in fronto-temporal regions and the thalamus in the CIS group (p ≤ 0.019). Cognitive performance was not associated with structural brain changes except for the association between worse visuo-spatial performance and lower white matter volume in the CIS group (β = 0.29; p = 0.042). Our results indicated that patients with CIS at high risk for MS may have a pattern of lower cognitive performance and regional brain atrophy similar to that found in patients with MS. Lower cognitive performance may be present in up to one-third of patients with CIS at high risk for MS, but, unlike patients with MS, variability in their cognitive performance may lead to a lack of consistent associations with structural brain changes.
- MeSH
- atrofie MeSH
- demyelinizační nemoci komplikace diagnostické zobrazování psychologie MeSH
- dospělí MeSH
- kognitivní dysfunkce diagnostické zobrazování etiologie MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mozek diagnostické zobrazování MeSH
- neuropsychologické testy MeSH
- počítačové zpracování obrazu MeSH
- posuzování pracovní neschopnosti MeSH
- prognóza MeSH
- progrese nemoci MeSH
- rizikové faktory MeSH
- velikost orgánu MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
