OBJECTIVES: This cross-sectional study aimed to compare the sexual function (SF) and pelvic floor function of men with systemic sclerosis (SSc) with age-matched healthy controls (HC) and to identify the implications of clinical features on SF. MATERIAL AND METHOD: Twenty SSc males and 20 HC aged 18-70 years completed eleven questionnaires assessing SF [International Index of Erectile Function (IIEF), Male Sexual Health Questionnaire (MSHQ)]; sexual quality of life: Sexual Quality of Life Questionnaire-Male (SQoL-M); pelvic floor function: Pelvic Floor Impact Questionnaire-Short Form 7 (PFIQ-7), fatigue, depression, physical fitness, functional disability, and quality of life. Clinical data were collected. RESULTS: Significantly worse SF was observed in patients (median IIEF erectile function 12 in SSc versus 29 in HC, p < 0.001), with 70% reporting erectile dysfunction (ED) compared to 15% in HC. However, no significant difference was observed regarding pelvic floor function (median PFIQ7 8.8 in SSc versus 7.0 in HC, p = 0.141). Impaired SF was associated with higher disease activity, increased systemic inflammation, more pronounced fatigue, reduced physical fitness, severe depression, impaired overall quality of life, dyspepsia, and arthralgias (p < 0.05 for all). CONCLUSIONS: Sexual dysfunction is highly prevalent in our SSc patients, whereas pelvic floor dysfunction is unlikely to be associated with these problems.

• Klíčová slova
• Male sexual function, erectile dysfunction, pelvic floor function, sexual health, systemic sclerosis,
• MeSH
• erektilní dysfunkce * komplikace   MeSH
• kvalita života MeSH
• lidé MeSH
• pánevní dno MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• sexuální dysfunkce fyziologická * etiologie   MeSH
• systémová sklerodermie * komplikace   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: To study the trajectories of changes in damage over time and explore associations with autoantibody defined subgroups using a large international cohort of patients with idiopathic inflammatory myopathies (IIM). METHODS: Data from the MYONET registry, including patients who were tested for autoantibodies and had at least one assessment of damage using the Myositis Damage Index (MDI), were analyzed. Patients were sub-grouped according to their autoantibody profiles (myositis-specific, myositis-associated, or seronegative). The index date was defined as the time point for the first registered MDI assessment. The longitudinal trajectories of damage with autoantibody status as the main predictor were analyzed using linear mixed models. RESULTS: A total of 757 adult patients were included in this study. Each year of disease duration since diagnosis had an estimated MDI score increase of 0.16 units for the seronegative group (reference). Compared with the seronegative group as reference, patients with dermatomyositis-specific autoantibodies developed less damage per year of follow-up since diagnosis (average 0.08 less score, P = 0.04), whereas patients with anti-PM/Scl autoantibodies developed more damage per year of follow-up since diagnosis (average 0.28 higher score, P = 0.03) independent of sex and age at diagnosis. The seronegative subgroup and the immune-mediated necrotizing myopathy autoantibody subgroup had the strongest correlation between severity of muscle damage and HAQ-DI scores at five years of follow-up, rho=0.84, P < 0.001 and rho=0.72, P < 0.001, respectively. CONCLUSION: Our study is the first to describe patterns and trajectories of change in damage over time in relation to autoantibody defined subgroups in a large international multicenter cohort of patients with IIM. Patients with anti-PM/Scl scored a greater extent of damage, whereas patients with dermatomyositis-specific antibodies had less damage than seronegative patients. Severity in muscle damage had moderate to strong correlation with functional disability among the IMNM and seronegative subgroups with lower correlations for the other subgroups. These findings suggest that autoantibodies may be useful predictors of long-term damage.

• Klíčová slova
• Autoantibodies, Dermatomyositis, Inflammatory myopathies, Myositis, Organ damage,
• MeSH
• autoprotilátky * krev   imunologie   MeSH
• dermatomyozitida imunologie   krev   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• myozitida * imunologie   krev   MeSH
• progrese nemoci MeSH
• registrace * MeSH
• senioři MeSH
• stupeň závažnosti nemoci MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• Názvy látek
• autoprotilátky * MeSH

Myocarditis is a potentially life-threatening inflammatory disease of the myocardium, often resulting from infectious and immune-mediated responses. Clinical presentation in severe cases often results in a devastating illness requiring extracorporeal membrane oxygenation support as a result of cardiogenic shock. Although endomyocardial biopsy is still considered the gold standard for diagnosis, it often reveals nonspecific lymphocytic infiltration. Because the precise cause is usually unknown, the initial treatment typically involves immunosuppression and frequent assessment of myocardial contractility. This report presents 3 rare cases of autoimmune diseases (polymyositis, immunoglobulin G4-related disease, and systemic lupus erythematosus) that require extracorporeal membrane oxygenation support as a result of fulminant myocarditis, including their follow-up periods.

• Klíčová slova
• autoimmunity, connective tissue diseases, extracorporeal membrane oxygenation, immunoglobulin G4-related disease, immunosuppression therapy, lupus erythematosus, systemic, myocarditis, polymyositis,
• MeSH
• autoimunitní nemoci diagnóza   terapie   imunologie   komplikace   MeSH
• biopsie MeSH
• dospělí MeSH
• IgG4 asociovaná nemoc diagnóza   terapie   komplikace   MeSH
• kardiogenní šok terapie   etiologie   diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mimotělní membránová oxygenace * metody   MeSH
• myokard patologie   imunologie   MeSH
• myokarditida * terapie   diagnóza   patofyziologie   imunologie   MeSH
• systémový lupus erythematodes komplikace   diagnóza   terapie   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Primary Sjögren's syndrome is an autoimmune disorder that is characterized by lymphocytic infiltration of salivary and lacrimal glands. The extra-glandular manifestations might be arthritis, myalgia, glomerulonephritis, skin rashes, and neurologic involvement. One of the uncommon neurologic manifestations is neuromyelitis optica spectrum disorder (NMOSD). In the present case, an older woman is reported that was diagnosed with NMOSD secondary to keratoconjunctivitis sicca, which is rare in geriatric practice.

• Klíčová slova
• Aging, Neuromyelitis optica spectrum disorder, Primary Sjögren’s syndrome,
• MeSH
• lidé MeSH
• neuromyelitis optica * diagnóza   komplikace   etiologie   MeSH
• senioři MeSH
• Sjögrenův syndrom * komplikace   diagnóza   MeSH
• suchá keratokonjunktivitida etiologie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Rheumatoid arthritis and osteoarthritis both affect the articular cartilage, and are characterized by signs and symptoms that can affect the functions of the human body. This cross-sectional observational study evaluated electromyographic activity in the masseter and temporalis muscles, molar bite force, and mandibular mobility in adult women with rheumatoid arthritis or osteoarthritis. A total of 42 women were distributed into 3 groups: rheumatoid arthritis group (ARG, n=14); osteoarthritis group (OAG, n=14); and a healthy control group (CG, n=14). Electromyography was used to evaluate mandibular tasks at rest, right and left laterality, protrusion, and dental clenching during maximum voluntary contraction, with and without parafilm, and a dynamometer was used to analyse the right and left molar bite forces. A digital caliper was used to measure the range of mandibular movement for maximum mouth opening, right and left laterality, and protrusion. Statistical analyses were performed, including analysis of variance and Tukey's test (P<0.05). Electromyography showed no significant differences between the groups when evaluating the masticatory muscles during the mandibular tasks. Significant difference was observed between the ARG and CG, however, in the maximum right (P=0.007) and left (P=0.02) molar bite forces. Significant difference was observed in the maximum mouth opening of the ARG and OAG groups compared with that of the CG (P=0.009), suggesting that adult women with rheumatoid arthritis or osteoarthritis experience functional alterations in the stomatognathic system, particularly in molar bite force and maximum mouth opening.

• Klíčová slova
• Bite force, Electromyography, Mandibular mobility, Masticatory muscles, Osteoarthritis, Rheumatoid arthritis,
• MeSH
• dospělí MeSH
• elektromyografie * MeSH
• lidé středního věku MeSH
• lidé MeSH
• mandibula patofyziologie   MeSH
• musculus masseter patofyziologie   MeSH
• musculus temporalis patofyziologie   MeSH
• osteoartróza * patofyziologie   diagnóza   MeSH
• průřezové studie MeSH
• revmatoidní artritida * patofyziologie   MeSH
• senioři MeSH
• síla skusu * MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH

The correct diagnosis is fundamental for the appropriate treatment to be employed in a particular pathology. The best treatment is not the one that solves only local problems, fragmenting the patient, and therefore, it is necessary to integrate the entire systemic condition of the individual before initiating any local treatment. This context inevitably requires dentistry to participate in a multidisciplinary approach, where the role of the dentist is expanded in concepts that encompass ethics, human dignity, and professional valorization. This article describes a clinical case of a patient with mucopolysaccharidosis type I, whose treatment of cystic lesions present in the mandible was exclusively performed through marsupialisation. The objective of this study is to demonstrate, within the complexity of this rare syndrome, the difficulties of diagnosis and the need for evaluation of the patient beyond the limits of the oral cavity, as well as to report two cases of large dentigerous cysts, surgically treated conservatively through marsupialisation, without the need for re-approach for enucleation and without recurrences over a 20-year period.

• Klíčová slova
• Dental retentions, Dentigerous cyst, Marsupialization, Mucopolysaccharidosis type I,
• MeSH
• dentigerózní cysta * chirurgie   diagnóza   MeSH
• lidé MeSH
• mukopolysacharidóza I * komplikace   diagnóza   terapie   MeSH
• nemoci mandibuly chirurgie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

OBJECTIVES: To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM. METHODS: Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1γ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified. Patients with DM sine dermatitis or with discordant dual autoantibody specificities were excluded. Sub-cohorts of patients with ASyS with or without skin involvement were defined based on presence of DM-type rashes (heliotrope rash, Gottron's papules/sign, violaceous rash, shawl sign, V-sign, erythroderma, and/or periorbital rash). RESULTS: In total 1054 patients were included (DM, n = 405; ASyS, n = 649). In the ASyS cohort, 31% (n = 203) had DM-type skin involvement (ASyS-DMskin). A higher frequency of extramuscular manifestations, including Mechanic's hands, Raynaud's phenomenon, arthritis, interstitial lung disease and cardiac involvement differentiated ASyS-DMskin from DM (all P < 0.001), whereas higher frequency of any of four DM-type rashes-heliotrope rash (n = 248, 61% vs n = 90, 44%), violaceous rash (n = 166, 41% vs n = 57, 9%), V-sign (n = 124, 31% vs n = 28, 4%), and shawl sign (n = 133, 33% vs n = 18, 3%)-differentiated DM from ASyS-DMskin (all P < 0.005). Cancer-associated myositis (CAM) was more frequent in DM (n = 67, 17%) compared with ASyS (n = 21, 3%) and ASyS-DMskin (n = 7, 3%) cohorts (both P < 0.001). CONCLUSION: DM-type rashes are frequent in patients with ASyS; however, distinct clinical manifestations differentiate these patients from classical DM. Skin involvement in ASyS does not necessitate increased malignancy surveillance. These findings will inform future ASyS classification criteria and patient management.

• Klíčová slova
• Anti-synthetase syndrome, Cutaneous, Dermatomyositis, Epidemiology, Extramuscular, MYONET, Malignancy, Rashes, Skin,
• MeSH
• aminoacyl-tRNA-synthetasy imunologie   MeSH
• autoprotilátky * krev   imunologie   MeSH
• dermatomyozitida * imunologie   komplikace   MeSH
• dospělí MeSH
• exantém etiologie   MeSH
• intersticiální plicní nemoci imunologie   etiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• myozitida * imunologie   komplikace   MeSH
• nádory komplikace   MeSH
• registrace * MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Názvy látek
• aminoacyl-tRNA-synthetasy MeSH
• autoprotilátky * MeSH

BACKGROUND: Systemic lupus erythematosus (SLE) is characterised by increased cardiovascular morbidity and mortality risk. We aimed to examine the prevalence of traditional cardiovascular risk factors and their control in an international survey of patients with systemic lupus erythematosus. METHODS: In this multicentre, cross-sectional study, cardiovascular risk factor data from medical files of adult patients (aged ≥18) with SLE followed between Jan 1, 2015, and Jan 1, 2020, were collected from 24 countries, across five continents. We assessed the prevalence and target attainment of cardiovascular risk factors and examined potential differences by country income level and antiphospholipid syndrome coexistence. We used the Systemic Coronary Risk Evaluation algorithm for cardiovascular risk estimation, and the European Society of Cardiology guidelines for assessing cardiovascular risk factor target attainment. People with lived experience were not involved in the research or writing process. FINDINGS: 3401 patients with SLE were included in the study. The median age was 43·0 years (IQR 33-54), 3047 (89·7%) of 3396 patients were women, 349 (10.3%) were men, and 1629 (48·1%) of 3390 were White. 556 (20·7%) of 2681 patients had concomitant antiphospholipid syndrome. We found a high cardiovascular risk factor prevalence (hypertension 1210 [35·6%] of 3398 patients, obesity 751 [23·7%] of 3169 patients, and hyperlipidaemia 650 [19·8%] of 3279 patients), and suboptimal control of modifiable cardiovascular risk factors (blood pressure [target of <130/80 mm Hg], BMI, and lipids) in the entire SLE group. Higher prevalence of cardiovascular risk factors but a better blood pressure (target of <130/80 mm Hg; 54·9% [1170 of 2132 patients] vs 46·8% [519 of 1109 patients]; p<0·0001), and lipid control (75·0% [895 of 1194 patients] vs 51·4% [386 of 751 patients], p<0·0001 for high-density lipoprotein [HDL]; 66·4% [769 of 1158 patients] vs 60·8% [453 of 745 patients], p=0·013 for non-HDL; 80·9% [1017 of 1257 patients] vs 61·4% [486 of 792 patients], p<0·0001 for triglycerides]) was observed in patients from high-income versus those from middle-income countries. Patients with SLE with antiphospholipid syndrome had a higher prevalence of modifiable cardiovascular risk factors, and significantly lower attainment of BMI and lipid targets (for low-density lipoprotein and non-HDL) than patients with SLE without antiphospholipid syndrome. INTERPRETATION: High prevalence and inadequate cardiovascular risk factor control were observed in a large multicentre and multiethnic SLE cohort, especially among patients from middle-income compared with high-income countries and among those with coexistent antiphospholipid syndrome. Increased awareness of cardiovascular disease risk in SLE, especially in the above subgroups, is urgently warranted. FUNDING: None.

• MeSH
• antifosfolipidový syndrom * epidemiologie   komplikace   MeSH
• dospělí MeSH
• hypertenze epidemiologie   MeSH
• kardiovaskulární nemoci * epidemiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• prevalence MeSH
• průřezové studie MeSH
• rizikové faktory kardiovaskulárních chorob * MeSH
• rizikové faktory MeSH
• systémový lupus erythematodes * epidemiologie   komplikace   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH

BACKGROUND: The anti-Nucleolar Organizer Region 90 antibodies (NOR90) are rare antinuclear antibodies (ANA) reported in systemic sclerosis (SSc). Especially due to low prevalence, the clinical relevance of NOR90 in SSc remains uncertain. OBJECTIVES: To analyze the clinical associations of NOR90 in patients with SSc in a multicentric cohort. METHODS: Post-hoc, cross-sectional study of prospectively collected data from the European Scleroderma Trials and Research (EUSTAR) database, with additional information on NOR90. Further, we performed a systematic literature search, using the terms "systemic sclerosis" and "NOR90" across three databases: Medline via PubMed, Scopus, and Thomson Reuters' Web of Science Core Collection, from inception to November 1st, 2023. RESULTS: Overall, 1318 patients with SSc were included (mean age 58.3 ± 13.7 years, 81.3 % female), of whom 44 (3.3 %) were positive for NOR90. Of these, 32 were also positive for one of the SSc-criteria antibodies: 9/44 (20.5 %) for anti-topoisomerase I, 18/42 (42.9 %) for anti-centromere, and 5/40 (12.5 %) for anti-RNA polymerase III. NOR90-positive patients were more frequently female, had lower modified Rodnan skin score (mRSS), and lower prevalence of upper and lower gastrointestinal (GI) symptoms compared to NOR90-negative patients. In multivariable analysis, NOR90 remained significantly associated with lower mRSS and less frequent GI symptoms. The literature search identified 17 articles, including a total number of 87 NOR90-positive out of 3357 SSc patients, corresponding to an overall prevalence of 2.6 %. CONCLUSION: To our best knowledge, this is the largest SSc cohort tested for NOR90 to date, confirming the NOR90 prevalence in SSc patients is around 3 %.

• Klíčová slova
• Anti-NOR90 antibodies, Antinuclear antibodies, Antinucleolar antibodies, EUSTAR, NOR-90, Systemic sclerosis,
• MeSH
• antinukleární protilátky * krev   MeSH
• DNA-topoisomerasy I imunologie   MeSH
• dospělí MeSH
• klinická relevance MeSH
• lidé středního věku MeSH
• lidé MeSH
• průřezové studie MeSH
• senioři MeSH
• systémová sklerodermie * imunologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• systematický přehled MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• antinukleární protilátky * MeSH
• DNA-topoisomerasy I MeSH

BACKGROUND: Cystathionine β-synthase (CBS)-deficient homocystinuria (HCU) is an inherited disorder of sulfur amino acid metabolism with varying severity and organ complications, and a limited knowledge about underlying pathophysiological processes. Here we aimed at getting an in-depth insight into disease mechanisms using a transgenic mouse model of HCU (I278T). METHODS: We assessed metabolic, proteomic and sphingolipidomic changes, and mitochondrial function in tissues and body fluids of I278T mice and WT controls. Furthermore, we evaluated the efficacy of methionine-restricted diet (MRD) in I278T mice. RESULTS: In WT mice, we observed a distinct tissue/body fluid compartmentalization of metabolites with up to six-orders of magnitude differences in concentrations among various organs. The I278T mice exhibited the anticipated metabolic imbalance with signs of an increased production of hydrogen sulfide and disturbed persulfidation of free aminothiols. HCU resulted in a significant dysregulation of liver proteome affecting biological oxidations, conjugation of compounds, and metabolism of amino acids, vitamins, cofactors and lipids. Liver sphingolipidomics indicated upregulation of the pro-proliferative sphingosine-1-phosphate signaling pathway. Liver mitochondrial function of HCU mice did not seem to be impaired compared to controls. MRD in I278T mice improved metabolic balance in all tissues and substantially reduced dysregulation of liver proteome. CONCLUSION: The study highlights distinct tissue compartmentalization of sulfur-related metabolites in normal mice, extensive metabolome, proteome and sphingolipidome disruptions in I278T mice, and the efficacy of MRD to alleviate some of the HCU-related biochemical abnormalities.

• Klíčová slova
• Cystathionine beta-synthase, Homocystinuria, Metabolomics, Methionine restriction, Proteomics,
• MeSH
• cystathionin-beta-synthasa * metabolismus   nedostatek   genetika   MeSH
• homocystinurie * metabolismus   genetika   MeSH
• játra * metabolismus   MeSH
• lipidomika metody   MeSH
• metabolomika * metody   MeSH
• mitochondrie metabolismus   MeSH
• modely nemocí na zvířatech * MeSH
• myši transgenní * MeSH
• myši MeSH
• proteom metabolismus   MeSH
• proteomika * metody   MeSH
• sfingolipidy * metabolismus   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• cystathionin-beta-synthasa * MeSH
• proteom MeSH
• sfingolipidy * MeSH