AIMS: Liver cytochromes (CYPs) play an important role in drug metabolism but display a large interindividual variability resulting both from genetic and environmental factors. Most drug dose adjustment guidelines are based on genetics performed in healthy volunteers. However, hospitalized patients are not only more likely to be the target of new prescriptions and drug treatment modifications than healthy volunteers, but will also be more subject to polypharmacy, drug-drug interactions, or to suffer from disease or inflammation affecting CYP activities. METHODS: We compared predicted phenotype based on genetic data and measured phenotype using the Geneva cocktail to determine the extent of drug metabolizing enzyme variability in a large population of hospitalized patients (>500) and healthy young volunteers (>300). We aimed to assess the correlation between predicted and measured phenotype in the two populations. RESULTS: We found that, even in cases where the genetically predicted metabolizer group correlates well with measured CYP activity at group level, this prediction lacks accuracy for the determination of individual metabolizer capacities. Drugs can have a profound impact on CYP activity, but even after combining genetic and drug treatment information, the activity of a significant proportion of extreme metabolizers could not be explained. CONCLUSIONS: Our results support the use of measured metabolic ratios in addition to genotyping for accurate determination of individual metabolic capacities to guide personalized drug prescription.

• MeSH
• dospělí MeSH
• fenotyp MeSH
• genotyp MeSH
• hospitalizace MeSH
• léčivé přípravky metabolismus   MeSH
• lékové interakce MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• senioři MeSH
• systém (enzymů) cytochromů P-450 * genetika   metabolismus   MeSH
• zdraví dobrovolníci pro lékařské studie 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

BACKGROUND: Increased lung cancer risks for low socioeconomic status (SES) groups are only partially attributable to smoking habits. Little effort has been made to investigate the persistent risks related to low SES by quantification of potential biases. METHODS: Based on 12 case-control studies, including 18 centers of the international SYNERGY project (16,550 cases, 20,147 controls), we estimated controlled direct effects (CDE) of SES on lung cancer via multiple logistic regression, adjusted for age, study center, and smoking habits and stratified by sex. We conducted mediation analysis by inverse odds ratio weighting to estimate natural direct effects and natural indirect effects via smoking habits. We considered misclassification of smoking status, selection bias, and unmeasured mediator-outcome confounding by genetic risk, both separately and by multiple quantitative bias analyses, using bootstrap to create 95% simulation intervals (SI). RESULTS: Mediation analysis of lung cancer risks for SES estimated mean proportions of 43% in men and 33% in women attributable to smoking. Bias analyses decreased the direct effects of SES on lung cancer, with selection bias showing the strongest reduction in lung cancer risk in the multiple bias analysis. Lung cancer risks remained increased for lower SES groups, with higher risks in men (fourth vs. first [highest] SES quartile: CDE, 1.50 [SI, 1.32, 1.69]) than women (CDE: 1.20 [SI: 1.01, 1.45]). Natural direct effects were similar to CDE, particularly in men. CONCLUSIONS: Bias adjustment lowered direct lung cancer risk estimates of lower SES groups. However, risks for low SES remained elevated, likely attributable to occupational hazards or other environmental exposures.

• MeSH
• analýza mediace * MeSH
• dospělí MeSH
• kouření * epidemiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• logistické modely MeSH
• nádory plic * epidemiologie   MeSH
• odds ratio MeSH
• rizikové faktory MeSH
• senioři MeSH
• společenská třída * MeSH
• studie případů a kontrol MeSH
• zkreslení výsledků (epidemiologie) * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Psoriáza je systémové zánětlivé onemocnění s převahou projevů na kůži. Je charakterizována komplexní patofyziologií určenou genovou predispozicí s výrazným podílem faktorů vnitřního i vnějšího prostředí, které se uplatňují epigenetickými mechanismy. Podstatnou součástí je poškozující zánět, na který cílí různé léčebné modality. U většiny nemocných jimi lze dosáhnout zhojení kožních projevů, následované ale obvykle exacerbací onemocnění. Jednou z příčin exacerbace by mohla být tzv. zánětlivá jizva charakterizovaná abnormálním nastavením buněčných složek vrozené a specifické imunity i kůže. Na jejím vzniku a udržování se podílejí epigenetické procesy, které bude možné v blízké budoucnosti léčebně modulovat.

Psoriasis is a systemic inflammatory disease with clinical presentation on skin. Pathophysiology of psoriasis is complex with genetic predisposition and substantial contribution of variable factors of both internal and external origins which is mediated by epigenetic mechanisms. Immunopathological mechanisms are the target of the most effective therapeutical modalities with the ultimate goal „clean skin“. However, the therapeutical efficacy is lost in time in majority of patients. Exacerbation of skin presentation could be caused by so called „inflammatory scar“ characterized by abnormal setting of both innate and specific immunity cellular substrate together with participation of skin cells. Inflammatory scar initiation and duration is regulated largely by epigenetic mechanisms, which could be therapeuticaly modulated in near future.

• Klíčová slova
• zánětlivá jizva,
• MeSH
• jizva * diagnóza   etiologie   klasifikace   patologie   MeSH
• kožní nemoci diagnóza   klasifikace   patologie   MeSH
• lidé MeSH
• progrese nemoci MeSH
• psoriáza * diagnóza   komplikace   patofyziologie   patologie   MeSH
• zánět diagnóza   klasifikace   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

BACKGROUND: Emerging evidence suggests that tumour morphological heterogeneity may influence mutational profiles relevant to therapy response. In this pilot study, we aimed to assess whether mutations identified within specific morphological patterns or at the invasion front correlate with shorter time to progression after anti-EGFR therapy, as compared to whole-tissue analysis. METHODS: We investigated genetic mutations in 142 samples from primary tumours of 39 KRAS wild-type metastatic colorectal cancer (CRC) patients receiving anti-EGFR therapy. Deep next-generation sequencing was performed on whole-tumour sections and six morphology-defined tumour regions. RESULTS: Mutations in genes linked to anti-EGFR therapy response (KRAS, BRAF, NRAS, PTEN and PI3KCA) were found uniquely in the non-responder group, with substantial variability across morphological sub-regions. BRAF mutations were aligned with serrated and mucinous morphologies, while KRAS mutations (p.Lys147Glu and p.Ala146Thr) were associated with mucinous and desmoplastic morphologies. In all cases, the cumulative mutational profile from sub-regions provided more details than that of the whole-tumour profile. CONCLUSION: Our findings highlight that comprehensive analysis, considering morphological heterogeneity, is crucial for personalised CRC treatment strategies.

• MeSH
• chemorezistence * genetika   MeSH
• dospělí MeSH
• erbB receptory antagonisté a inhibitory   MeSH
• fosfohydroláza PTEN genetika   MeSH
• GTP-fosfohydrolasy genetika   MeSH
• inhibitory proteinkinas * terapeutické užití   MeSH
• kolorektální nádory * genetika   farmakoterapie   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace * MeSH
• mutační analýza DNA MeSH
• pilotní projekty MeSH
• protinádorové látky * terapeutické užití   MeSH
• protoonkogenní proteiny B-Raf genetika   MeSH
• protoonkogenní proteiny p21(ras) genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Angioedém je otok zahrnující podkožní a/nebo submukózní vrstvy tkáně, které postihují obličej, rty, krk a končetiny, dutinu ústní, hrtan a/nebo střevní sliznici. Diferenciální diagnostika angioedémů je mezioborová. Z hlediska patofyziologie může být angioedém klasifikován jako angioedém zprostředkovaný histaminem a angioedém zprostředkovaný bradykininem. Histaminem zprostředkovaný angioedém je častější a souvisí s aktivací a degranulací žírných buněk a bazofilů, bývá provázen svědivou a zarudlou urtikárií. Angiedém zprostředkovaný bradykininem může zahrnovat formy hereditárního angioedému, získaného deficitu C1 inhibitoru a angioedémy spojené s inhibitorem angiotenzin-konvertujícího enzymu či dalších léků. Je charakterizován nadměrnou lokální tvorbou bradykininu se vznikem bolestivého angioedému, není spojen se svědivou kopřivkou, má delší trvání a často břišní příznaky. Je rezistentní vůči standardním terapiím, jako je adrenalin, glukokortikoidy a antihistaminika. V rámci diferenciální diagnostiky v akutní fázi je vhodné provést laboratorní vyšetření tryptázy k odlišení histaminového angioedému v souběhu anafylaxe a C4 složku komplementu jako screening pro bradykininový angioedém. Hereditární angioedém (HAE) je vzácné, geneticky podmíněné onemocnění s autozomálně dominantním přenosem a variabilním spektrem bradykininových angioedémů. V širším kontextu se jedná o imunodeficitní onemocnění, klasifikované na HAE s deficiencí C1 inhibitoru (HAE-C1-INH) a HAE s normální hladinou a funkcí C1 inhibitoru (HAE nC1-INH), s mutacemi jiného (mnohdy ještě neznámého) typu. Vznik center pro diagnostiku a péči o pacienty s HAE a získanými bradykininovými angioedémy (AAE) významně zlepšil životní osudy těchto pacientů. Do center jsou konzilárně odesíláni i pacienti s atypickými angioedémy (s převahou bradykininové etiologie).

Angioedema is swelling involving the subcutaneous and/or submucosal layers of tissue that affects the face, lips, neck and extremities, oral cavity, larynx, and/or intestinal mucosa. The differential diagnosis of angioedema is interdisciplinary. From a pathophysiological perspective, angioedema can be classified as histamine-mediated angioedema and bradykinin-mediated angioedema. Histamine-mediated angioedema is more common and is associated with activation and degranulation of mast cells and basophils, and is often accompanied by pruritic and erythematous urticaria. Bradykinin-mediated angioedema can include forms of hereditary angioedema, acquired C1 inhibitor deficiency, and angioedema associated with angiotensin-converting enzyme inhibitors or other drugs. It is characterized by excessive local production of bradykinin with the development of painful angioedema, is not associated with pruritic urticaria, has a longer duration, and often has abdominal symptoms. It is resistant to standard therapies such as adrenaline, glucocorticoids, and antihistamines. As part of the differential diagnosis in the acute phase, it is appropriate to perform a laboratory test for tryptase to differentiate histamine angioedema in conjunction with anaphylaxis and the C4 component of complement as a screening for bradykinin angioedema. Hereditary angioedema (HAE) is a rare, genetically determined disease with autosomal dominant transmission and a variable spectrum of bradykinin angioedema. In a broader context, it is an immunodeficiency disease, classified into HAE with C1 inhibitor deficiency (HAE-C1-INH) and HAE with normal levels and function of C1 inhibitor (HAE nC1-INH), with mutations of another (often still unknown) type. The establishment of centers for the diagnosis and care of patients with HAE and acquired bradykinin angioedema (AAE) has significantly improved the lives of these patients. Patients with atypical angioedema (with a predominance of bradykinin etiology) are also referred to the centers.

• MeSH
• angioedém etiologie   klasifikace   terapie   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• hereditární angioedémy * diagnóza   genetika   patofyziologie   terapie   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• věk při počátku nemoci MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• přehledy MeSH

BACKGROUND: The etiopathogenesis of atopic dermatitis is complicated, and it includes aspects such as dysfunction of the skin barrier, changes in immune responses, IgE-mediated hypersensitivity, and many characteristics of the environment. Regarding skin barrier dysfunction, a number of genetic changes have been described. This genetic predisposition could be related to the phenotypes of atopic dermatitis. AIM: In this study, several polymorphisms in five proinflammatory genes were associated with certain phenotypes of AD patients (genotype-phenotype study). METHODS: In total, 89 unrelated AD Czech (Caucasian) patients were genotyped regarding five proinflammatory gene polymorphisms (angiotensinogen AGT M235T, AGT-6 G/A, TNF-α-238 G/A, TNF-β Fok1, IL-6-174 C/G and IL-6-596 G/A). Genotyping was performed using PCR and restriction analysis. For phenotypes, patients' sex, age and personal and family history of atopy, aero- and food allergies and other complex diseases were evaluated. RESULTS: A significant association with transepidermal water loss (TEWL) measured on the forearm was found with the AGT M235T polymorphism (p = 0.02). For the AG genotype of TNF-α-238 G/A, a six-times higher risk for a family history of diabetes mellitus compared to other examined aspects of family history was found (p = 0.02). A family history of thyreopathy was associated with the IL-6-174 G/C polymorphism when compared to a family history of other complex diseases. The GG genotype had a ten-times higher risk for a family history of thyreopathy compared to the other genotypes (p = 0.004). This result was highly specific (0.914). The GG genotype of IL-6-596 G/A was associated with a family history of thyreopathy, with the same result (p = 0.004). Moreover, the G allele of IL-6-174 G/C was associated with a family history of thyreopathy compared to AD patients without a positive family history of complex diseases (p = 0.03). In AD men, the MM genotype of the AGT M235T gene was found to be associated with food allergies (p = 0.004). This result was highly sensitive (0.833). A family history of cardiovascular disease in AD men was associated with AGT-6 G/A variability. The A allele was found to be six times more frequent in patients with a positive family history of cardiovascular disease (p = 0.02, with high sensitivity and specificity (0.700 and 0.735, respectively)). A family history of diabetes mellitus was associated with the TNF-β Fok1 polymorphism, where the B1 allele was almost six times more frequent in AD men with a positive family history of diabetes mellitus (p = 0.02), with high sensitivity (0.85). A significant association between TEWL measured on the forearm and the AGT M235T polymorphism was found when AD women were carriers of the MM genotype, with a median of 25 and range 4-61; those patients with the MT genotype had a median of 10 and range of 0.3-39; and patients with the TT genotype had a median of 5 and range of 3-40, p = 0.003. The polymorphism AGT-6 G/A was associated with different ages of eczema onset. The AG genotype was almost nine times more risky for the youngest group (0-7 years) compared to the oldest group (more than 18 years) (p = 0.02), with high specificity for this result. CONCLUSIONS: Our results in the field of cytokine signaling in the immune system in patients with atopic dermatitis are in agreement with those of GWASs. We suggest that cost-effective and simple PCR tests may be the best approach for the rapid and optimal collection of valid genetic information in clinical practice.

• MeSH
• atopická dermatitida * genetika   patologie   MeSH
• dospělí MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• interleukin-6 genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• TNF-alfa genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: Global healthcare disparities, stemming from organizational differences in healthcare systems, lead to variable availability and funding, resulting in a gap between recommended and implemented practices for interleukin (IL)-1-mediated autoinflammatory diseases. We aimed to assess diagnostic, treatment and follow-up options for these diseases in Central and Eastern European countries, comparing them with the 2021 recommendations of the European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR). METHODS: In 2023, a structured collaborative effort was organized with representatives from 10 Central and Eastern European countries to address autoinflammatory diseases. The discussion focused on potential strategies to achieve the goals mentioned above. RESULTS: Almost all the participating countries have specialized centers for the diagnosis and treatment of autoinflammatory diseases and the care is provided either by rheumatologists and/or clinical immunologists. Genetic testing is available in all countries, but there is variation in the types of tests offered. Massive parallel sequencing panels for autoinflammatory diseases are available in all countries, with waiting periods for results ranging from 3 to 6 months in most cases. The availability of disease-specific laboratory assessments, such as S100 proteins, is limited. IL-1 inhibitors are available in all countries, but there are differences in practices regarding the licensing and reimbursement of anakinra and canakinumab based on specific indications or diagnoses. The age at which the transition process begins varies, but in most countries, it typically starts around the age of 18 or beyond and in majority of the participating countries there is no structured transition program. CONCLUSIONS: Adherence to the 2021 EULAR/ACR recommendations for IL-1-mediated autoinflammatory diseases is achievable in Central and Eastern European countries. Determining the prevalence and incidence of these diseases in this region remains a persistent challenge for future research efforts, with the overarching goal of identifying new patients with autoinflammatory diseases.

• MeSH
• dědičné zánětlivé autoimunitní nemoci * diagnóza   terapie   farmakoterapie   epidemiologie   MeSH
• humanizované monoklonální protilátky MeSH
• interleukin-1 * antagonisté a inhibitory   MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH
• východní Evropa MeSH

BACKGROUND AND OBJECTIVE: The European Association of Urology urolithiasis guidelines provide evidence-based recommendations for the diagnosis and treatment of urinary stone disease. Given the complexity and variability of stone formation, individualised patient management is emphasised. METHODS: The guidelines incorporate evidence from the latest research and focus on risk assessment, imaging techniques, pharmacological management, and surgical interventions. A research librarian conducted literature searches for urolithiasis in the Cochrane Library, Medline, and Embase databases via Dialog-Datastar. The strength of recommendations is also rated. KEY FINDINGS AND LIMITATIONS: Diagnosis relies on a combination of clinical history, biochemical evaluation, and imaging, with ultrasound as the first-line modality and low-dose computed tomography as the gold standard for precise stone assessment. Stone composition and burden influence treatment decisions with algorithms primarily based on stone size, location, and composition. Nonsteroidal anti-inflammatory drugs are recommended for first-line pain management, with opioids reserved as a secondary option. Medical expulsive therapy with α-blockers may be considered for selected patients with ureteral stones. Extracorporeal shockwave lithotripsy, ureteroscopy, and percutaneous nephrolithotomy remain the primary intervention modalities, with selection based on stone characteristics and patient factors. Advances in multiplanar imaging have improved assessment of the stone burden, although further research is needed to refine predictive models. Genetic testing is recommended for high-risk patients to guide personalised treatment. CONCLUSIONS AND CLINICAL IMPLICATIONS: The guidelines provide a framework for clinical decision-making while acknowledging the need for continued advances in urolithiasis.

• MeSH
• hodnocení rizik MeSH
• lidé MeSH
• litotripse normy   MeSH
• společnosti lékařské MeSH
• ureteroskopie normy   MeSH
• urolitiáza * terapie   diagnóza   MeSH
• urologie * normy   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• směrnice pro lékařskou praxi MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation of type I interferon (IFN) signalling, we identified a cohort of individuals heterozygous for mutations in PTPN1, encoding the protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe the clinical phenotype and molecular and cellular pathology of this new disease. METHODS: In this case series, we identified patients and collected clinical and neuroradiological data through collaboration with paediatric neurology and clinical genetics colleagues across Europe (Czechia, France, Germany, Italy, Slovenia, and the UK) and Israel. Variants in PTPN1 were identified by exome and directed Sanger sequencing. The expression of IFN-stimulated genes was determined by quantitative (q) PCR or NanoString technology. Experiments to assess RNA and protein expression and to investigate type 1 IFN signalling were undertaken in patient fibroblasts, hTERT-immortalised BJ-5ta fibroblasts, and RPE-1 cells using CRISPR-Cas9 editing and standard cell biology techniques. FINDINGS: Between Dec 20, 2013, and Jan 11, 2023, we identified 12 patients from 11 families who were heterozygous for mutations in PTPN1. We found ten novel or very rare variants in PTPN1 (frequency on gnomAD version 4.1.0 of <1·25 × 10:sup>-6). Six variants were predicted as STOP mutations, two involved canonical splice-site nucleotides, and two were missense substitutions. In three patients, the variant occurred de novo, whereas in nine affected individuals, the variant was inherited from an asymptomatic parent. The clinical phenotype was characterised by the subacute onset (age range 1-8 years) of loss of motor and language skills in the absence of seizures after initially normal development, leading to spastic dystonia and bulbar involvement. Neuroimaging variably demonstrated cerebral atrophy (sometimes unilateral initially) or high T2 white matter signal. Neopterin in CSF was elevated in all ten patients who were tested, and all probands demonstrated an upregulation of IFN-stimulated genes in whole blood. Although clinical stabilisation and neuroradiological improvement was seen in both treated and untreated patients, in six of eight treated patients, high-dose corticosteroids were judged clinically to result in an improvement in neurological status. Of the four asymptomatic parents tested, IFN signalling in blood was normal (three patients) or minimally elevated (one patient). Analysis of patient blood and fibroblasts showed that tested PTPN1 variants led to reduced levels of PTPN1 mRNA and PTP1B protein, and in-vitro assays demonstrated that loss of PTP1B function was associated with impaired negative regulation of type 1 IFN signalling. INTERPRETATION: PTPN1 haploinsufficiency causes a type 1 IFN-driven autoinflammatory encephalopathy. Notably, some patients demonstrated stabilisation, and even recovery, of neurological function in the absence of treatment, whereas in others, the disease appeared to be responsive to immune suppression. Prospective studies are needed to investigate the safety and efficacy of specific immune suppression approaches in this disease population. FUNDING: The UK Medical Research Council, the European Research Council, and the Agence Nationale de la Recherche.

• MeSH
• dítě MeSH
• haploinsuficience * genetika   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mutace genetika   MeSH
• nemoci mozku genetika   MeSH
• neurozánětlivé nemoci genetika   MeSH
• předškolní dítě MeSH
• tyrosinfosfatasa nereceptorového typu 1 * genetika   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND AND OBJECTIVES: HLA-B27 is a genetic marker associated with spondyloarthropathies, particularly ankylosing spondylitis and axial spondyloarthritis. While its prevalence varies across populations, no data exist for Slovak patients. This study aimed to determine HLA-B27 prevalence in Slovak patients with suspected spondyloarthropathies and assess differences by sex and age. METHODS: A retrospective cohort of 1,614 patients (888 females and 726 males) was analyzed for HLA-B27 status (positive/negative) using reverse hybridisation (HLA-B27 StripAssay). Statistical analyses included Pearson's Chi-square test and non-parametric Mann-Whitney U and Kruskal-Wallis tests for sex- and age-related differences. RESULTS: HLA-B27 positivity was 20.57%, with a higher proportion in males (23.28%) than females (18.36%, p = 0.0177). The less than 20 age group had the highest absolute number of positive cases (126 cases; 17.80%), while the 21-40 group had the highest relative positivity (119 cases; 29.38%). The lowest positivity was in the more than 61 age group (17 cases; 13.08%), though age distribution differences were not statistically significant (p = 0.7765). Positivity varies across diagnoses, peaking in musculoskeletal (M) and eye disorders (H), where it exceeds 29%. CONCLUSION: HLA-B27 positivity is strongly associated with rheumatologic and ophthalmologic conditions and exhibits age- and sex-related variability. These findings emphasize the diagnostic significance of HLA-B27 testing in Slovak patients, especially for early detection and management of spondyloarthropathies. Further research on HLA-B27 variability and its clinical implications is needed to optimize diagnostic strategies and patient care.

• MeSH
• dítě MeSH
• dospělí MeSH
• HLA-B27 antigen * genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• retrospektivní studie MeSH
• senioři MeSH
• spondylartropatie genetika   epidemiologie   imunologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH