BACKGROUND: The known impairments of the cardiovascular system in Parkinson ́s disease (PD) are caused by autonomic dysfunction and manifested mainly in postural hypotension, chronotropic insufficiency, and reduced heart rate variability. Other dysfunctions, mainly stress response, arrhythmia occurrence, and heart morphology changes, are still the subject of research. OBJECTIVES: To assess the heart rate and blood pressure reaction during exercise, advanced measurements of heart volumes and mass using cardiac magnetic resonance (CMR), and occurrence of arrhythmias in PD patients. METHODS: Thirty PD patients (19 men, mean age 57.5 years) without known cardiac comorbidities underwent bicycle ergometry, electrocardiogram Holter monitoring and CMR. Exercise and CMR parameters were compared with controls (24 subjects for ergometry, 20 for CMR). RESULTS: PD patients had lower baseline systolic blood pressure (SBP) (117.8 vs. 128.3 mmHg, p < 0.01), peak SBP (155.8 vs. 170.8 mmHg, p < 0.05), and lower heart rate increase (49.7 vs. 64.3 beats per minute, p < 0.01). PD patients had higher indexed left and right ventricular end-diastolic volumes (68.5 vs. 57.3, p = 0.003 and 73.5 vs. 61.0 mL/m2 , respectively) and also indexed left and right ventricular end-systolic volumes (44.1 vs. 39.0, p = 0.013 and 29.0 vs. 22.0 mL/m2 , p = 0.013, respectively). A high prevalence of atrial fibrillation (8 subjects, 26.7%) was found. CONCLUSIONS: This novel study combining functional and structural approaches showed that PD is linked with weaker blood pressure and heart rate reaction during exercise, increased myocardial mass and heart volumes compared to controls, and a high prevalence of atrial fibrillation.

• MeSH
• elektrokardiografie MeSH
• fibrilace síní * komplikace   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• Parkinsonova nemoc * komplikace   epidemiologie   MeSH
• srdce MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Diferenciální diagnostika patologické břišní masy je široká. Obvykle na prvním místě ošetřující lékař s obavami pomýšlí na nádorové onemocnění. Nejčastější nádory, které v břišní dutině můžeme nalézt, jsou neuroblastom, hepatoblastom, lymfomy, sarkomy, Wilmsův nádor ledviny či ovariální nádory. V rámci řádného diferenciálně diagnostického procesu je nutno mít na paměti i neonkologické příčiny, které mohou ukazovat na jiné závažné onemocnění. V této kazuistice je prezentován případ pacienta s náhodně nahmatanou břišní resistencí, který byl došetřován pro podezření na zhoubné onemocnění. U tohoto pacienta masa neměla nádorový původ, jednalo se o rozsáhlý hematom, což byl první příznak doposud nepoznané těžké hemofilie A. Hemofilie je vzácné vrozené krvácivé onemocnění. U téměř třetiny pacientů není pozitivní rodinná anamnéza, a tedy se s ním může setkat i neonatolog či praktický lékař ve své ordinaci. Vhledem k závažným krvácivým komplikacím, které mohou být s touto chorobou spojeny, je úkolem ošetřujícího lékaře nemoc včas rozpoznat a odeslat pacienta do péče specialistů.

The differential diagnosis of a pathological abdominal mass is broad. Usually, the first thing the attending physician is concerned of is a malignant disease. Neuroblastomas, hepatoblastomas, lymphomas, sarcomas, Wilms' or ovarian tumors can be palpated in the abdominal cavity. As part of the proper differential diagnostic process, it is also nece­ssary to keep in mind non-malignant causes that may point to other serious diseases. This case report presents the patient with accidentally palpated abdominal resistance, who was in diagnostic process for suspected malignancy. In this patient, the mass did not have a malignant origin, it was a large hematoma, which was the first symptom of previously unrecognized severe hemophilia A. Hemophilia is a rare congenital bleeding disorder that accompanies the patient and his family throughout their life. In almost one third of patients, this is a sporadic occurrence of the disease, and therefore a neonatologist or a pediatrician may encounter it in their praxis. In context of the possible serious complications that this disease brings, it is the task of the attending pediatrician to recognize the disease in time and transfer the patients to the specialist care.

• Klíčová slova
• emicizumab,
• MeSH
• břicho patologie   MeSH
• dědičné koagulopatie diagnóza   terapie   MeSH
• hematom etiologie   MeSH
• hemofilie A * diagnóza   farmakoterapie   komplikace   MeSH
• humanizované monoklonální protilátky terapeutické užití   MeSH
• koagulační faktory terapeutické užití   MeSH
• kojenec MeSH
• krvácení etiologie   MeSH
• lidé MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

INTRODUCTION: florio® HAEMO is a hemophilia treatment monitoring application (app) offering activity tracking and wearable device connectivity. Its use might support everyday activities for people with hemophilia. The aim of this study was to evaluate user satisfaction, long-term usage and the impact on data entry when pairing a wearable with a hemophilia monitoring app. METHODS: This is a follow-up of a two-part user survey conducted in Central Europe. People with hemophilia and parents/caregivers of children with hemophilia using florio HAEMO and who completed part one were invited to complete a second online questionnaire at least 4 months later. RESULTS: Fifty participants (83.3%) who completed part one of the survey continued to use the florio HAEMO app and completed part two. Of 14 participants who chose to use the app with a wearable, more than half (57.1%) were aged between 13 and 25 years. Overall, the results demonstrated that florio HAEMO is very easy or rather easy to use, especially for individuals pairing the app with a wearable. Most people using a wearable indicated that florio HAEMO was very or rather important in bringing certainty to daily activities (85.7%). Notably, 14 of 36 (38.9%) non-wearable users indicated that they would prefer to pair the app with a wearable in the future. CONCLUSIONS: Adherence to the florio HAEMO app is maintained over an extended period of use. Pairing the app with a wearable might enable easier access to app features, increase data entry motivation and provide more certainty about daily activities for people with hemophilia.

• MeSH
• adherence pacienta statistika a číselné údaje   MeSH
• dítě MeSH
• dospělí MeSH
• hemofilie A * MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mobilní aplikace MeSH
• nositelná elektronika * MeSH
• pacientova volba * MeSH
• průzkumy a dotazníky MeSH
• spokojenost pacientů MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

Background: Women with gestational diabetes (GDM) have an increased risk of metabolic syndrome (MS) after delivery. MS could precede gravidity. The aims of this study were (i) to detect the prevalence of MS in women at the time of GDM diagnosis, (ii) to detect the prevalence of MS in the subgroup of GDM patients with any form of impaired glucose tolerance after delivery (PGI), and (iii) to determine whether GDM women with MS have a higher risk of peripartal adverse outcomes. Methods: A cross-sectional observational study comprised n = 455 women with GDM. International Diabetes Federation (IDF) criteria for MS definition were modified to the pregnancy situation. Results: MS was detected in 22.6% of GDM patients in those with PGI 40%. The presence of MS in GDM patients was associated with two peripartal outcomes: higher incidence of pathologic Apgar score and macrosomia (p = 0.01 resp. p = 0.0004, chi-square). Conclusions: The presence of MS in GDM patients is a statistically significant risk factor (p = 0.04 chi-square) for PGI. A strong clinical implication of our findings might be to include MS diagnostics within GDM screening using modified MS criteria in the second trimester of pregnancy.

• Publikační typ
• časopisecké články MeSH

• Publikační typ
• tisková chyba MeSH

• Klíčová slova
• studie AFFIRM-AHF,
• MeSH
• deficit železa * diagnóza   etiologie   MeSH
• kardiostimulátor statistika a číselné údaje   MeSH
• klinické zkoušky jako téma MeSH
• lidé MeSH
• srdeční selhání * komplikace   metabolismus   MeSH
• transferin farmakokinetika   MeSH
• zánět patofyziologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

V oblasti léčby hemofilie dochází v posledních letech k významnému pokroku v souvislosti s vývojem nových tzv. nefaktorových léků. Standardním postupem pro velkou část pacientů s těžkou formou choroby však zůstává a v dohledné době pravděpodobně zůstane profylaktické intravenózní podávání koncentrátu chybějícího faktoru. U takto léčených pacientů poskytuje stanovení individuální farmakokinetiky, nejlépe s využitím některého z populačních modelů, neocenitelné informace umožňující precizní nastavení a frekvence podávání léku s ohledem na míru rizika krvácení, kterému pacient při svých aktivitách čelí. Zejména vysoce aktivní část pacientů z takového přístupu může profitovat více než z nefaktorové profylaxe. I přes nepochybný rozvoj nefaktorové léčby hemofilie proto farmakokinetika bude v blízké budoucnosti i nadále neocenitelným nástrojem pro pacienta a jeho lékaře.

In recent years, there has been significant progress in the treatment of hemophilia with the development of new non-factor therapies. However, the standard approach for a significant portion of patients with severe forms of the disease remains and is likely to remain prophylactic intravenous administration of missing factor concentrate. For patients treated in this manner, determining individual pharmacokinetics, preferably using one of the population models, provides invaluable information for precise dosage and frequency of drug administration, taking into account the level of bleeding risk faced by the patient in their activities. Particularly, a highly active subset of patients can benefit more from this approach than from non-factor prophylaxis. Despite the undeniable progress in development of non-factor treatment for hemophilia, pharmacokinetics will continue to be an invaluable tool for the patient and their physician in the near future.

OBJECTIVE: This work was aimed at analyzing in-hospital, 30-day and 1-year mortality rates, impact of selected cardiovascular factors on mortality of patients with ST-segment elevation myocardial infarction (STEMI) manifested on electrocardiogram (ECG) and treated by the percutaneous coronary intervention (PCI) at our cardiac center, comparing the subgroup of non-shock (survivors and deceased) patients after STEMI and evaluating how these patients differ from each other. METHODS: In total, 270 patients with STEMI manifested on ECG and treated by PCI were enrolled between April 1, 2018, and March 31, 2019, at our cardiologic center. Our study sought to determine the risk of death after acute myocardial infarction with carefully selected factors and parameters such as the presence of cardiogenic shock, ischemic time, left ventricular ejection fraction (LVEF), post‐PCI TIMI (thrombolysis in myocardial infarction) flow and serum levels of cardio‐specific markers, namely troponin T, creatine kinase and N-terminal pro-brain natriuretic peptide (NT-proBNP). Further evaluation included in-hospital, 30-day and 1-year mortality rates in shock and non-shock patients and determination of factors that influence the survival separately in each subgroup. The follow-up was carried out for 12 months after the myocardial infarction in form of outpatient examinations. After 12 months of follow-up, the collected data were statistically evaluated. RESULTS: Shock and non-shock patients differed in mortality and several other parameters including NT-proBNP values, ischemic time, TIMI flow defect and LVEF. In all outcomes (in-hospital, 30-day and 1-year mortality rates) the shock patients did worse than non-shock patients (p < 0.001). In addition, age, gender, LVEF, NT-proBNP and post‐PCI TIMI flow less than 3 were found to be important factors influencing the overall survival. In shock patients, the survival was associated with age, LVEF and TIMI flow, while in non-shock patients, the factors predicting survival were age, LVEF, level of NT-proBNP and troponin levels. CONCLUSION: Shock patients differed in terms of mortality in post-PCI TIMI flow, while non-shock patients varied in troponin and NT-proBNP levels. Despite early intervention, certain risk factors might affect the clinical outcome and prognosis of patients with STEMI treated by PCI (Tab. 5, Fig. 1, Ref. 30).

AIM: Cutaneous T-cell lymphoma (CTCL) is a group of T-cell malignancies that develop in the skin. Though studied intensively, the etiology and pathogenesis of CTCL remain elusive. This study evaluated the survival of CTCL patients in the 1st Department of Dermatovenereology of St. Anne's University Hospital Brno. It included analysis of 19 polymorphic gene variants based on their expected involvement in CTCL severity. MATERIAL AND METHODS: 75 patients with CTCL, evaluated and treated at the 1st Department of Dermatovenereology of St. Anne ́s University Hospital Brno, Faculty of Medicine, Masaryk University, were recruited for the study over the last 28 years (44 men and 31 women, average age 58 years, range 20-82 years). All patients were genotyped for 19 chosen gene polymorphisms by the conventional PCR method with restriction analysis. A multivariate Cox regression model was calculated to reveal genetic polymorphisms and other risk factors for survival. RESULTS: The model identified MDR Ex21 2677 (rs2032582) as a significant genetic factor influencing the survival of the patients, with the T-allele playing a protective role. A multivariate stepwise Cox regression model confirmed the following as significant independent risk factors for overall survival: increased age at admission, clinical staging of the tumor, and male sex. CONCLUSION: We showed that the TT genotype at position 2677 of the MDR1 gene exhibited statistically significant longer survival in CTCL patients. As such, the TT genotype of MDR1 confers a significant advantage for the CTCL patients who respond to treatment.

• MeSH
• dospělí MeSH
• genotyp MeSH
• kožní T-buněčný lymfom * genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nádory kůže * genetika   patologie   MeSH
• polymorfismus genetický MeSH
• rizikové faktory MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH