OBJECTIVE: Granulomatosis with polyangiitis (GPA) is an ANCA-associated vasculitis. The 2022 ACR/EULAR-endorsed classification criteria for GPA was derived using data only from adult patients. We aimed to assess the performance of the ACR/EULAR classification criteria for GPA in paediatric patients and compare it with the EULAR/Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology European Society (PReS)-endorsed Ankara 2008 criteria for GPA. METHODS: Retrospective data of paediatric patients with GPA in 20 centres from 9 countries were evaluated. The diagnosis of GPA was made according to the expert opinion. The sensitivity, specificity, positive predictive value, and negative predictive value of the criteria sets were evaluated. RESULTS: The study included 77 patients with GPA and 108 controls [IgA vasculitis (n = 44), Takayasu's arteritis (n = 20), microscopic polyangiitis (n = 16), polyarteritis nodosa (n = 14), Behçet's disease (n = 12), eosinophilic granulomatosis with polyangiitis (n = 1) and Cogan's syndrome (n = 1)] with a median age of 17.8 and 15.2 years, respectively. Among patients with GPA, constitutional symptoms (85.7%) and ENT involvement (79.2%) were the most common presentations. In the GPA group, 73 patients fulfilled the Ankara 2008 criteria and 69 the ACR/EULAR classification criteria. Sensitivities of the Ankara 2008 criteria and the ACR/EULAR classification criteria were 94.8% and 89.6%, while specificities were 95.3% and 96.3%, respectively. No significant difference was found between sensitivities and specificities of both classification criteria (P = 0.229 and P = 0.733, respectively). CONCLUSION: In children, both the ACR/EULAR and EULAR/PRINTO/PReS Ankara 2008 classification criteria for GPA perform well and similarly.
- MeSH
- Behcetův syndrom klasifikace diagnóza MeSH
- Churgův-Straussové syndrom diagnóza klasifikace MeSH
- dítě MeSH
- granulomatóza s polyangiitidou * klasifikace diagnóza MeSH
- IgA vaskulitida diagnóza klasifikace MeSH
- lidé MeSH
- mikroskopická polyangiitida klasifikace diagnóza MeSH
- mladiství MeSH
- polyarteritis nodosa klasifikace diagnóza MeSH
- prediktivní hodnota testů MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- revmatologie normy MeSH
- senzitivita a specificita * MeSH
- Takayasuova arteriitida * klasifikace diagnóza MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- srovnávací studie MeSH
- Geografické názvy
- Evropa MeSH
The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases.
- MeSH
- artritida * genetika diagnóza MeSH
- dědičné zánětlivé autoimunitní nemoci MeSH
- lidé MeSH
- lymfedém genetika diagnóza MeSH
- mutace * MeSH
- nemoci centrálního nervového systému MeSH
- neuropatická artropatie genetika diagnóza MeSH
- rodokmen * MeSH
- sarkoidóza * genetika diagnóza MeSH
- sekvenování exomu MeSH
- signální adaptorový protein Nod2 * genetika MeSH
- synovitida * genetika diagnóza MeSH
- uveitida * genetika diagnóza MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
This study presents part of the research from a 2019 project in Czechia's residential educational facilities for children with emotional and behavioral disorders. The high prevalence of drug use among these adolescents has a cumulative set of harms to health. The main research objective was to examine the prevalence of substance use among adolescent girls and boys living in residential educational facilities. The auxiliary research objective was to compare its results with the ESPAD (2015 and 2019) survey of the general Czech adolescent mainstream population. The sample consisted of 204 respondents aged 15-19 years. The primary data collection instrument was the ESPAD questionnaire. The analysis of the collected data was carried out using SPSS software. The findings arrived from statistical procedures such as descriptive data analysis and various statistical methods. Data from ESPAD research (2015, 2019) was selected for analytical comparisons. The findings indicate a high prevalence of drug use among the study group of adolescents in residential education facilities and a high majority of selected substance use in comparison with the results found in the ESPAD (2015, 2019) study in the general school population of Czechia. The findings support a systemic focus on the prevention of health risks, harm reduction, as well as the treatment of substance use disorder among adolescents. Data on the incidence and prevalence of substance use should be regularly collected and evaluated in these facilities
- MeSH
- duševní poruchy MeSH
- lidé MeSH
- mladiství v ústavní péči MeSH
- mladiství MeSH
- nepříznivé zkušenosti z dětství MeSH
- poruchy spojené s užíváním psychoaktivních látek * epidemiologie prevence a kontrola MeSH
- průzkumy a dotazníky MeSH
- ubytovací zařízení MeSH
- výchova a vzdělávání MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Pracovní skupina České revmatologické společnosti (ČRS) předkládá aktualizovaná doporučení pro farmakoterapii revmatoidní artritidy (RA) na základě nejnovějších poznatků o léčbě RA. Základní podmínkou úspěšné léčby zůstává včasná diagnostika onemocnění a okamžité zahájení účinné terapie založené na strategii léčby k cíli, jejíž podstatou je posuzování aktivity onemocnění pomocí kompozitních indexů v pravidelných časových intervalech a úprava terapie podle toho, zda byl dosažen předem stanovený cíl léčby. Strategie léčby k cíli platí obecně, bez ohledu na použitém léčivu. V časné fázi onemocnění je cílem léčby remise, v případě dlouhotrvajícího onemocnění alespoň nízká klinická aktivita, přičemž těchto stavů je zpravidla třeba dosáhnout do 6. měsíce od zahájení léčby a tento stav by měl být trvale udržován. V úvodu se doporučuje zahájit léčbu methotrexátem (MTX) spolu s glukokortikoidy. Silný důraz je kladen na krátkodobé podání glukokortikoidů, redukci dávky až úplné vysazení nejpozději do 3. měsíce. Při kontraindikaci nebo intoleranci MTX lze zvážit nasazení leflunomidu nebo sulfasalazinu. Pokud po 3 měsících intenzivní léčby přetrvává vysoká aktivita nemoci nebo po 6 měsících není dosaženo cíle léčby, pak je nutné léčbu upravit v kontextu přítomností nepříznivých prognostických faktorů (vysoká aktivita nemoci, pozitivní autoprotilátky a časné erozivní poškození kloubů). Pokud nejsou přítomny rizikové faktory závažného průběhu onemocnění, lze zvážit změnu za jiný konvenční chorobu modifikující antirevmatický lék (DMARD), eventuálně jejich kombinaci. Pokud jsou přítomny nepříznivé prognostické faktory, měla by se ke konvenčnímu DMARD přidat biologická léčba – inhibitory TNF (adalimumab, certolizumab pegol, etanercept, golimumab, infliximab), abatacept, tocilizumab, sarilumab nebo rituximab; včetně biosimilárních přípravků. Po pečlivém zvážení rizik závažných kardiovaskulárních a nádorových onemocnění lze v této fázi léčby uvažovat o přípravcích ze skupiny inhibitorů Janusových kináz (JAK). Tato doporučení poprvé uvádí možnost nasazení TNF blokující léčby v časné fázi RA zároveň s MTX a to v situaci zvýšeného rizika závažného průběhu onemocnění. Pokud dojde k selhání účinku první linie biologické léčby nebo inhibitorů JAK, pak je na místě nasazení léku s jiným mechanismem účinku, ale po selhání léčby inhibitory TNF, IL-6R nebo JAK je možné zvážit i lék ze stejné skupiny. Stávající aktualizace doporučených postupů se zabývá léčebnými postupy obtížně léčitelné RA po selhání více biologických léků nebo inhibitorů JAK a léčbou pacientů s přítomností závažných komorbidit. Uvedeno je také stanovisko ČRS k léčbě inhibitory JAK. U nemocných v setrvalé remisi trvající minimálně 6 měsíců, kteří již nejsou léčeni glukokortikoidy, je možné zvážit snížení dávky nebo prodloužení dávkovacího intervalu DMARD, ale úplné vysazení konvenčního, případně biologického léku nebo inhibitoru JAK se nedoporučuje, protože vede často ke vzplanutí nemoci. Předložená aktualizace doporučených postupů ČRS není závazným předpisem, ale praktickým návodem jak s ohledem na bezpečnost, účinnost a cenu postupovat při léčbě pacientů s RA v běžné klinické praxi.
A working group of the Czech Society of Rheumatology (CRS) is presenting updated recommendations for the pharmacotherapy of rheumatoid arthritis (RA) based on the latest knowledge on the treatment of RA. Early diagnosis of the disease and immediate initiation of effective therapy based on a treatment-to-target strategy, which involves assessing disease activity using composite indices at regular time intervals and adjusting therapy according to whether a predetermined treatment goal has been achieved, remain essential for successful treatment. The treat-to-target strategy applies generally, regardless of the drug used. The treatment goal is remission in the early phase of the disease, or at least low clinical activity in the case of long-standing disease, and these states should generally be achieved within 6 months of initiation of therapy and should be sustained. Initial treatment with methotrexate (MTX) together with glucocorticoids is recommended. Strong emphasis is placed on short-term glucocorticoid administration, and dose reduction to complete discontinuation by month 3 at the latest. If MTX is contraindicated or not tolerated, leflunomide or sulfasalazine may be considered. If high disease activity persists after 3 months of intensive treatment or the treatment goal is not achieved after 6 months, then treatment should be adjusted in the context of the presence of negative prognostic factors (high disease activity, positive autoantibodies, and early erosive joint damage). If risk factors for a severe disease course are not present, a switch to another conventional synthetic disease-modifying antirheumatic drug (DMARD), or possibly a combination of two of them, may be considered. If negative prognostic factors are present, biologic therapy - TNF inhibitors (adalimumab, certolizumab pegol, etanercept, golimumab, infliximab), abatacept, tocilizumab, sarilumab or rituximab; including biosimilars - should be added to conventional synthetic DMARDs. After careful consideration of the risk of serious cardiovascular and cancer events, drugs from the Janus kinase (JAK) inhibitor class may be considered at this stage of treatment. These recommendations introduce for the first time the possibility of deploying TNF-blocking therapy in early RA alongside MTX in the setting of increased risk of severe disease. If first-line biologic therapy or JAK inhibitors fail, then a drug with a different mechanism of action is appropriate, but after failure of treatment with TNF, IL-6R, or JAK inhibitors, a drug from the same group may be considered. The current update of the guideline addresses the management of difficult-to-treat RA after failure of multiple biologics or JAK inhibitors and the treatment of patients with the presence of significant comorbidities. The CRS position on treatment with JAK inhibitors is also presented. In patients in persistent remission lasting at least 6 months who are no longer treated with glucocorticoids, dose reduction or extension of the DMARD dosing interval may be considered, but complete withdrawal of a conventional synthetic or biologic drug or JAK inhibitor is not recommended because it often leads to disease flare. The present update of the CRS recommendations is not a binding prescription, but a practical guide on how to treat patients with RA in routine clinical practice with regard to safety, efficacy, and costs.
OBJECTIVES: To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity (LDA), moderate disease activity (MDA) and high disease activity (HDA) in children with juvenile dermatomyositis (JDM). METHODS: For cut-off definition, data from 139 patients included in a randomised clinical trial were used. Among the six versions of the JDMAI, JDMA1 (score range 0-40) and JDMAI2 (score range 0-39) were selected. Optimal cut-offs were determined against external criteria by calculating different percentiles of score distribution and through receiver operating characteristic curve analysis. External criteria included the modified Pediatric Rheumatology International Trials Organization (PRINTO) criteria for clinically ID in JDM (for ID) and PRINTO levels of improvement in the clinical trial (for LDA and HDA). MDA cut-offs were set at the score interval between LDA and HDA cut-offs. Cut-off validation was conducted by assessing construct and discriminative ability in two cohorts including a total of 488 JDM patients. RESULTS: The calculated JDMAI1 cut-offs were ≤2.4 for ID, ≤6.6 for LDA, 6.7-11 for MDA and >11 for HDA. The calculated JDMAI2 cut-offs were ≤5.2 for ID, ≤8.5 for LDA, 8.6-11.3 for MDA and >11.3 for HDA. The cut-offs discriminated strongly among disease activity states defined subjectively by caring physicians and parents, parents' satisfaction or non-satisfaction with illness outcome, levels of pain, fatigue, physical functional impairment and physical well-being. CONCLUSIONS: Both JDMAI1 and JDMAI2 cut-offs revealed good metrologic properties in validation analyses and are, therefore, suited for application in clinical practice and research.
- MeSH
- dermatomyozitida * diagnóza MeSH
- dítě MeSH
- lékaři * MeSH
- lidé MeSH
- randomizované kontrolované studie jako téma MeSH
- revmatologie * MeSH
- ROC křivka MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Autoinflamatorní onemocnění (AID) zahrnují pestrou skupinu chorob definovaných porušenou regulací vrozeného imunitního systému. Rychlost rozvoje této oblasti umožňují především citlivější metody genetického vyšetření. Klinickým projevem sterilního zánětu bývá epizodická horečka v doprovodu různého orgánového postižení. Detailnější pochopení etiopatogenetického pozadí AID otevírá nové perspektivy cílené terapii. Cílem léčby je kontrola aktivity onemocnění a prevence poškození orgánů. Péče o pacienty s AID by měla být vedena multidisciplinárním týmem v rámci centra vysoce specializované péče. Nejdéle známou skupinou AID jsou syndromy periodické horečky, kam řadíme familiární středomořskou horečku (FMF), deficit mevalonátkinázy (MKD), periodický syndrom asociovaný s receptorem pro tumor nekrotizující faktor (TRAPS), periodické horečky asociované s kryopyrinem (CAPS) a periodickou horečku s afty, faryngitidou a krční adenitidou (PFAPA ). Článek poskytuje základní obecné informace o skupině autoinflamatorních nemocí a nejčastějších typech periodických horeček.
Autoinflammatory diseases (AID) include a diverse group of diseases defined by dysregulation of the innate immune system. Clinical manifestations of sterile inflammation include usually episodic fever with variable presence of organ involvement. A more detailed understanding of the etiopathogenetic background of AID opens new perspectives for targeted therapies. Disease activity control and prevention of organ damage are the main treatment goals. Multidisciplinary management of AID should be concentrated in specialised centers. The best known group of AIDs,periodic fever syndromes,include Familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Cryopyrin-associated periodic syndromes (CAPS) and Periodic fever with aphthae, pharyngitis and cervical adenitis (PFAPA ). The article provides general information about the group of autoinflammatory diseases and the most common types of periodic fevers.
- Klíčová slova
- autoinflamatorní nemoci,
- MeSH
- autoimunitní nemoci * diagnóza patofyziologie terapie MeSH
- dědičné zánětlivé autoimunitní nemoci diagnóza patofyziologie terapie MeSH
- familiární středomořská horečka diagnóza patofyziologie terapie MeSH
- horečka MeSH
- interleukin-1 MeSH
- lidé MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
OBJECTIVES: Assessment of active synovitis is crucial for the management of juvenile idiopathic arthritis (JIA). We aimed to investigate the correlation of musculoskeletal ultrasound (MSUS) and clinical examination results and relate them to arthritis relapse rate. METHODS: JIA patients with questionable presence of active arthritis (Q-joints) and controls (JIA and healthy children) were recruited. MSUS of Q-joints, active joints and their inactive counterparts was performed at study entry. Standard disease activity parameters were prospectively recorded. RESULTS: Of 481 joints of 138 JIA patients, 99 joints (20.6%) of 58 patients had one or more Q-joints with 54/99 (54.5%) having MSUS features of active disease. Clinically inactive joints had lower proportion of MSUS synovitis (78/253, 30.8%) while MSUS activity was present in 114/129 (88.4%) of clinically active joints and in 2/105 (1.9%) joints of 36 healthy controls. Within the 15-month follow-up 23/99 (22%) Q-joints and 31/253 (12%) clinically inactive joints relapsed. Joints with subclinical synovitis relapsed more frequently than MSUS inactive ones (p<0.001). The relapse rate was higher in MSUS-active Q-joints (19/23, 82%) than in clinically inactive ones (16/31, 52%) with MSUS synovial hypertrophy as the main relapse predictor in multivariate analysis. Ankle and knee joints relapsed most frequently. CONCLUSIONS: Acknowledgement of joints with questionable synovitis may contribute to the assessment of disease activity in JIA. Presence of MSUS synovitis carries a clinically meaningful risk of disease recurrence in these joints. In clinical practice, our findings encourage timely MSUS assessment of the joints in question, especially in patients without any other features of active disease.
