V revmatologické ambulanci se setkáváme s širokou paletou diagnóz. Pacienti přichází s příznaky zapadající spíše do degenerativních a funkčních poruch jako např. osteoartróza či osteoporóza. Setkáváme se ale i s pacienty se závažnými, někdy i život ohrožujícími nemocemi jako jsou systémové choroby pojiva, vaskulitidy či zánětlivé revmatické choroby. Předložené kazuistiky jsou z obou konců spektra pacientů v revmatologické ambulanci. První kazuistika je případ muže se subakutními bolestmi pohybového aparátu, hlavně ramenního kloubu, a únavovým syndromem. Druhý příběh popisuje pacientku s dlouhodobou diagnózou systémové sklerodermie. Obě kazuistiky popisují vliv psychosomatické intervence v akutní i dlouhodobé perspektivě a obě ilustrují, jak lze porozumět psychosociálnímu kontextu pacienta a jeho vlivu na somatické projevy
We detect a wide variety of diagnoses, in the rheumatology ambulancy,. Patients come with symptoms that fit more into degenerative and functional disorders such as osteoarthritis or osteoporosis. We also treat patients with serious systemic, sometimes life-threatening diseases such as connective tissue diseases, vasculitis or inflammatory rheumatic diseases. The presented case reports are from both ends of the spectrum of patients in the rheumatology clinic. The first case study is the case of a man with subacute musculoskeletal pain, shoulder joint especially and fatigue. The second case report describes a patient with a long-term diagnosis of systemic scleroderma. Both cases describe acute and long-term psychosomatic interventions. Detection of patient's psychosocial context may have an impact on somatic manifestations.
The IgM-related peripheral neuropathies (IgM-PN) are a group of chronic disorders characterized by the presence of monoclonal IgM that may be associated with one of several diseases affecting the peripheral nerves. In many cases, there is a monoclonal IgM associated with activity against neural targets, leading to progressive peripheral nerve demyelination. Neurological symptoms in this setting can also result from direct invasion of the peripheral or central nervous system by lymphoplasmacytic cells (neurolymphomatosis and Bing-Neel syndrome respectively) or via other mechanisms (for example AL amyloid deposition or cryoglobulinemic vasculitis). There is an expanding array of treatment options, but high-quality data are sparse. Diagnostic accuracy is important and needs collaboration between hematologists and neuromuscular specialists to determine the sequence and intensity of investigations. Appropriate causal attribution to the IgM disorder is essential to enable the correct therapeutic intervention. The aims of treatment intervention should be clear and realistic. Consistent and clinically meaningful measures are needed to capture treatment success. Despite therapeutic advances, many patients experience persistent disability, highlighting the need for further research.
- MeSH
- Immunoglobulin M * immunology MeSH
- Humans MeSH
- Disease Management MeSH
- Peripheral Nervous System Diseases * therapy diagnosis etiology immunology MeSH
- Waldenstrom Macroglobulinemia * therapy complications diagnosis immunology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Consensus Development Conference MeSH
BACKGROUND: To determine differences in the blood innate gene expression signatures of systemic lupus erythematosus (SLE) patients across various organ manifestations and disease activity, with a focus on lupus nephritis (LN) and central nervous system (CNS) involvement. METHODS: Toll-like receptor family (TLR 1-10) mRNA expression was investigated in peripheral blood mononuclear cells from patients with SLE (n = 74) and healthy controls (n = 34). We compared patients with histologically confirmed active LN or neuropsychiatric systemic lupus erythematosus (NPSLE) with patients without these symptoms. The expression of TLR mRNA was determined by RT‒qPCR using a high-throughput SmartChip Real-Time-qPCR system (WaferGen). Multivariate analysis and nonparametric statistics were used for data analysis to assess the associations between TLRs and disease activity and severity. RESULTS: TLR4 (0.044 vs. 0.081, p = 0.012) was upregulated and TLR10 (0.009 vs. 0.006, p = 0.0007) was downregulated in the whole cohort of SLE patients compared to healthy controls. A comparison of the active LN group with participants without kidney involvement revealed increased expression of TLR2 (0.078 vs. 0.03, p = 0.009), and TLR5 (0.035 vs. 0.017, p = 0.03). Moreover, a significant difference was observed in TLR9 expression between inactive LN and the control group (0.014 vs. 0.009, p = 0.01), together with borderline correlation in TLR2 expression (0.04 vs. 0.03, p = 0.06). Receiver operating characteristic (ROC) curve analysis revealed that TLR1 and TLR2 expression were the best potential diagnostic markers for active LN. The NPSLE group showed upregulation of TLR1 (0.088 vs. 0.048, p = 0.01), TLR4 (0.173 vs. 0.066, p = 0.0003) and TLR6 (0.087 vs. 0.036, 0.007). Our correlation analysis supported the close relationships among the expression of individual TLRs in the whole lupus cohort and its subgroups. CONCLUSION: Our study revealed differences in TLR expression between a lupus cohort and healthy controls. Additionally, our analysis provides insight into specific TLR expression in cases with severe organ manifestations, such as LN and NPSLE. The multiple mutual relationships of TLRs demonstrate the activation of innate immunity in SLE and suggest promising targets for future therapies or diagnostics.
- MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Lupus Nephritis * genetics blood MeSH
- Lupus Erythematosus, Systemic blood genetics MeSH
- Toll-Like Receptors * genetics biosynthesis MeSH
- Lupus Vasculitis, Central Nervous System * blood genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: The neurofilament light chain (NfL) in cerebrospinal fluid (CSF) and serum as a marker of neuronal damage may be a potential biomarker of neuropsychiatric involvement in SLE (NPSLE). METHODS: 80 patients with SLE were included.We obtained paired serum and CSF samples from 48 patients (NPSLE n=32, non-NPSLE n=16) and 31 controls. The serum and CSF levels of NfL were determined using ELISA. RESULTS: Patients with NPSLE demonstrated significantly higher levels of serum NfL compared with the non-NPSLE group (mean 31.68±36.63 pg/mL vs mean 16.75±12.48 pg/mL, respectively, p<0.05) and with controls (mean 10.74±4.36 pg/mL, p<0.01). Notably, CSF NfL concentrations in patients with NPSLE showed an upward trend (mean 1600±2852 pg/mL) in contrast to non-NPSLE patients (mean 393.4±191.9 pg/mL) and controls (mean 509.7±358.5 pg/mL). Furthermore, a positive correlation was observed between serum and CSF NfL levels in patients with NPSLE (R=0.8686, p<0.01). Elevated serum triacylglycerol concentrations, C reactive protein and organ damage were linked to increased serum (p=0.002; p<0.001; p=0.036) and CSF (p=0.008; p=0.007; p<0.001) NfL concentrations. In addition, we established a significant correlation between intrathecal NfL concentrations and interleukin-6 levels in the CSF of patients with NPSLE (R=0.5118, p<0.05). CONCLUSION: The serum NfL levels may be a readily available marker of neuropsychiatric involvement in SLE.
- MeSH
- Biomarkers * blood cerebrospinal fluid MeSH
- Adult MeSH
- Enzyme-Linked Immunosorbent Assay MeSH
- Interleukin-6 blood cerebrospinal fluid MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Neurofilament Proteins * blood cerebrospinal fluid MeSH
- Cross-Sectional Studies MeSH
- Case-Control Studies MeSH
- Lupus Vasculitis, Central Nervous System * blood cerebrospinal fluid MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Eozinofilní granulomatóza s polyangiitidou (eosinophilic granulomatosis with polyangiitis, EGPA) je vzácné multisystémové onemocnění řazené mezi vaskulitidy asociované s protilátkami proti cytoplazmě neutrofilní granulocyty (antineutrophil cytoplasmic antibody, ANCA). Mezi závažné orgánové a potenciálně život ohrožující manifestace patří postižení srdce, plic, nervového systému, ledvin, trávicího traktu a kůže. Postižení srdce je hlavní příčinou mortality a nepříznivé prognózy. Časná diagnostika EGPA je zcela zásadní. Léčba závisí na charakteru a závažnosti postižení a je rozdělena na indukční a udržovací. Podáváme přehled recentních doporučení klasifikace a léčby.
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare multisystem disease belong to ANCA (antineutrophil cytoplasmic antibody)-associated vasculitis. Serious organ and potentially life-threatening manifestations include involvement of heart, lungs, nervous system, kidneys, digestive tract, and skin. Cardiac involvement is a major cause of mortality and poor prognosis. Early diagnosis of EGPA is essential for prognosis. The treatment depends on the nature and severity of EGPA and is divided into induction and maintenance therapy. We provide an overview of recent classification and treatment recommendations.
- Keywords
- mepolizumab,
- MeSH
- Churg-Strauss Syndrome * diagnosis physiopathology therapy MeSH
- Adrenal Cortex Hormones pharmacology therapeutic use MeSH
- Antibodies, Monoclonal, Humanized pharmacology therapeutic use MeSH
- Humans MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Background: We report a successful wound treatment of a chronic ulcer with bone exposure using a somehow forgotten technique of creating burr holes into the bone. Most clinics would promote flap surgery to cover wounds with bone exposure, however, in some cases invasive surgery is not mandatory. We bring up an alternative treatment for such cases. Case: We report a case of chronic ulcers on both lower extremities in a 43-year-old Caucasian male. He suffers from a leukocytoclastic vasculitis and sarcoidosis which is medicated by immunosuppressive medication. The patient‘s wounds were initially treated with mechanical debridement and split-thickness skin grafts, however, his wounds tended to worsen the more they were manipulated and finally resulted in tibial bone exposure. After levelling up his immune suppressive drugs, the wounds finally stabilized but didn’t heal after several weeks of follow-up. The wound was ultimately treated by placing burr holes in the underlying cortical bone. Conclusion: Chronic ulcers with bone exposure at the lower leg are challenging to treat. They often require local or free flap surgery. In some cases, because of underlying systemic disease, it is mandatory to stay away from invasive flap surgery. With this case, we like to put under attention an old technique of decorticating the exposed bone to promote secondary wound healing. It has been described mainly for scalp injuries, however, we have proven the viability of this technique for pretibial wounds as well.
- MeSH
- Varicose Ulcer surgery etiology pathology therapy MeSH
- Adult MeSH
- Immunosuppressive Agents adverse effects MeSH
- Comorbidity MeSH
- Humans MeSH
- Treatment Failure MeSH
- Leg Injuries surgery complications pathology therapy MeSH
- Tibia * surgery pathology injuries MeSH
- Limb Salvage methods MeSH
- Plastic Surgery Procedures * methods MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
askulitidy velkých tepen (LVV, large vessel vasculitis) postihují aortu a velké, z ní odstupující tepny. Řadíme sem především V2 nemoci, a sice obrovskobuněčnou arteritidu (GCA, Giant cell arteritis) a Takayasu arteriitis (TAK). Obě nemoci jsou vzácné, také proto jejich časná diagnostika často selhává. GCA (dříve nazývaná Hortonovou temporální arteritis) je idiopatické zánětlivé onemocnění probíhající zejména ve stěně medie a adventicie. Pojí se často i s extravaskulárním zánětem, nejčas - těji ve formě polymyalgia revmatica. V současné době je zřejmé, že tato arteriitida zahrnuje širokou škálu fenotypového vyjádření: rozlišujeme GCA velkých cév (LV-GCA) a kraniální formu GCA (C-GCA). Takayasu arteritis je charakteristická postižením tepen odstupujících z aorty, zejména subklaviálních, kde granulomatózní zánět vede ke vzniku stenóz až uzávěrů. Postižena je nejen medie a adventicie, ale i intima. Diagnostika se opírá o zobrazovací metody, zejména PET/CT (s průkazem zvýšené metabolické tepen aktivity ve stěnách tepen), k přesnému zobrazení tepen slouží CT nebo MR angiografie. Iniciálním vyšetřením je duplexní ultrasonografie. Laboratorním vyšetřením zjišťujeme známky zánětu (zvýšení CRP a sedimentace erytrocytů), chybí specifický marker pro monitoraci aktivity nemoci. Výsledky léčby u LVV jsou obecně lepší než u většiny systémových zánětlivých onemocnění a stavů s postižením cév malého kalibru. LVV však není benigním onemocněním. V dlouhodobém horizontu je nutno vést nemocné do remise léčbou založenou na imunosupresi, včetně nových biologických přípravků, a následně sledovat a léčit potenciální vznik ischemie různých cílových orgánů. I tak jsou relapsy časté a chronické vaskulární komplikace jsou zdrojem významné morbidity.
Large vessel vasculitis (LVV) affects the aorta and the large arteries branching from it. There are 2 diseases in particular, namely Giant cell arteritis (GCA) and Takayasu arteritis (TAK). Both diseases are rare, which is why early diagnosis often fails. GCA (formerly called Horton's temporal arteritis) is an idiopathic inflammatory disease taking place mainly in the wall of the media and adventitia. It is often associated with extravascular inflammation, most commonly in the form of polymyalgia rheumatica. It is now clear that this arteritis includes a wide range of phenotypic expression: a distinction is made between large vessel GCA (LV-GCA) and the cranial form of GCA (C-GCA). Takayasu arteritis is characterized by involvement of the arteries arising from the aorta, especially the subclavian arteries, where granulomatous inflammation leads to stenosis and occlusion. Not only the media and adventitia are affected, but also the intima. Diagnostics is based on imaging methods, especially PET/CT (with evidence of increased metabolic activity in the arterial walls), CT or MR angiography is used for accurate imaging of the arteries. The initial examination is duplex ultrasonography. Laboratory examination is used to detect signs of inflammation (elevated CRP and erythrocyte sedimentation rate); there is no specific marker to monitor disease activity. Treatment outcomes in LVV are generally better than in most systemic inflammatory diseases and conditions with small vessel involvement. However, LVV is not a benign disease. In the long term, it is necessary to guide patients into remission with immunosuppression-based therapies, including novel biologic agents, and then monitor and treat potential ischemia of various target organs. Even so, relapses are common and chronic vascular complications are a source of significant morbidity.
- MeSH
- Arteritis * diagnosis classification physiopathology therapy MeSH
- Adrenal Cortex Hormones administration & dosage MeSH
- Antibodies, Monoclonal, Humanized administration & dosage MeSH
- Cardiovascular Agents administration & dosage MeSH
- Humans MeSH
- Giant Cell Arteritis diagnosis drug therapy pathology MeSH
- Takayasu Arteritis surgery diagnosis drug therapy pathology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Arthritis diagnosis etiology immunology classification microbiology MeSH
- Myositis diagnosis etiology classification MeSH
- Osteoarthritis diagnosis drug therapy classification MeSH
- Arthritis, Rheumatoid diagnostic imaging diagnosis drug therapy MeSH
- Rheumatology * classification MeSH
- Spondylarthritis diagnosis etiology classification MeSH
- Lupus Erythematosus, Systemic diagnosis classification complications MeSH
- Vasculitis diagnosis etiology classification MeSH
- Publication type
- Review MeSH
Revmatologie se zaměřuje na diagnostiku a léčbu onemocnění pohybového aparátu a v posledních letech zaznamenala významný pokrok. Tento článek přináší přehled nejnovějších poznatků v oblasti systémových revmatických onemocnění, včetně revmatoidní artritidy, spondyloartritid, revmatické poíymyaígie, obrovskobuněčné arteriitidy a systémových onemocnění pojiva, jako jsou systémový lupus erythematodes, systémová sklerodermie, idiopatické zánětlivé myopatie a systémových vaskulitid. Pozornost je věnována novým léčebným doporučením, obtížně léčitelným formám onemocnění a možnostem prevence. Významným pokrokem je zavedení monoklonálních anticytokinových protilátek kinázových inhibitorů do klinické praxe. Na závěr jsou diskutovány možnosti hluboké deplece B lymfocytů, zejména v kontextu T lymfocytů, které jsou upraveny pomocí chimérického antigenního receptoru (CAR-T), které představují inovativní experimentální terapii s potenciálem dosáhnout trvalé remise a vyléčení autoimunitních onemocnění.
Rheumatology focuses on the diagnosis and treatment of musculoskeletal diseases and has made significant progress in recent years. This article provides an overview of the latest findings in the field of systemic rheumatic diseases, including rheumatoid arthritis, spondyloarthritis, polymyalgia rheumatica, giant cell arteritis, and connective tissue diseases such as systemic lupus erythematosus, systemic sclerosis, idiopathic inflammatory myopathies, and systemic vasculitis. Attention is given to new recommendations for the management of rheumatic diseases, difficult-to-treat diseases, and preventive strategies. A major advancement is the introduction of monoclonal anticytokine antibodies and kinase inhibitors into clinical practice. Finally, the potential of deep B-cell depletion, particularly in the context of chimeric antigen receptor (CAR) T cells, will be discussed as an innovative experimental therapy with the potential to achieve long-term remission and cure in autoimmune diseases.
