Polycytemia vera je klinickou podjednotkou Ph-negativních myeloproliferací. Polycytemie má sice lepší prognózu než primární myelofibróza, ale zhoršuje významně kvalitu života, zvyšuje infekční a onkologické riziko a pacienty ohrožuje zejména závažnými trombotickými komplikacemi: například hlubokou žilní trombózou, plicní embolií, trombózami v abdominální oblasti, trombózou portální žíly, linenálních či hepatálních žil (Buddův-Chiariho syndrom) a trombózou žilních splavů v centrálním nervovém systému. Tyto trombotické příhody mohou být fatální. U rizikových pacientů je tedy nutné včas zahájit cytoredukční terapii s cílem minimalizovat symptomy onemocnění, zabránit progresi onemocnění, snížit riziko trombotických komplikací a transformaci do primární myelofibrózy či akutní hemoblastózy. Léčba interferony dokáže podle výsledků dosavadních studií ovlivnit podstatu onemocnění snížením alelické nálože mutace JAK2 V617F. Tato kazuistika demonstruje úspěšnou a velmi dobře tolerovanou Léčbu ropeginterferonem aLfa-2b s dosažením hematologické remise bez nutnosti hemodiluce, bez trombotických komplikací, a umožňující i po určité době snížení dávek ropeginterferonu a lfa -2 b vlivem snížení aktivity onemocnění.
Polycythemia vera is a clinical subset of Ph negative myeloproliferations. Polycythemia vera has a relatively good prognosis, in contrast to primary myelofibrosis. However, it worsens the quality of life, increases the risk of infection and oncology, and especially threatens patients with serious thrombotic complications: for example, deep vein thrombosis, pulmonary embolism, thrombosis in the abdominal area, thrombosis venae portae lienal or hepatic veins (Budd-Chiary syndrome) thrombosis of venous vessels in the central nervous system. These thrombotic events can be fatal. In patients at risk, it is therefore necessary to initiate cytoreductive therapy early to minimize the symptoms of the disease, prevent the progression of the disease, reduce the risk of thrombotic complications, progression to primary myelofibrosis or acute hemoblastosis. Treatment with interferons according to the results of studies to date, the essence of the disease can be influenced by reducing the mutational findings of the JAK2 V617F mutation. This case report demonstrates a successful and very well tolerated treatment with ropeginterferon alfa-2b with the establishment of hematological remission without the need for hemodilution and the possibility by reducing doses due to a reduction in disease activity.
Aim: To describe the role of the catchment cardiologist and to map the real practice in his catchment outpatient clinic related to adults with congenital heart diseases (CHD). Material and methods: A cohort of adults with CHD was selected by a retrospective analysis of the electronic database of adults in the catchment cardiologist's outpatient clinic for a 7-year period. Unambiguous cases were included. Uncertain cases and cases not meeting the criteria of CHD (valvular abnormalities without haemodynamic defects, persistent foramen ovale, arrhythmia, cardiomyopathy) were excluded. Results: Of the total number of examined adults (N = 2338, age 63.7±16.2 years; first examination by a cardiologist 73.3%, women 50.3%), the cohort of adults with CHD reached 5% (N = 119; age 58.4±18.4 years, men 52.9%). Part of CHD was found in our outpatient room (45.4%), the rest elsewhere (55.6%). Cardiological examination was usually indicated by a general practitioner (77%). The main indication was manifestation (69%), only 57% attended the simple follow-up of known CHD. Isolated CHD constituted the majority (92%). Baseline, 35.4% were after the CHD correction. In our follow-up, 31.5% of newly detected and 3.1% of known CHD were indicated for CHD correction, non-CHD mechanical intervention was indicated in 22.2%, respectively 5.4% in CHD adults. Conclusion: The catchment cardiologist plays the important role in the care of adults with CHD, which is likely to increase in the coming years. This is for both the primary detection of CHD and the continuity of dispensary care of CHD adults who have dropped out of the dispensary care of cardiac centres.
Kontext: Akutní končetinová ischemie (acute limb ischemia, ALI) je v dětské populaci vzácné, avšak závažné postižení s významnou celoživotní morbiditou nebo mortalitou. Zpravidla se jedná o posttraumatický stav nebo je příčina iatrogenní. Výsledky: V této studii bylo retrospektivně vyšetřeno 127 novorozenců s invazivním monitorováním hodnot arteriální krve na naší jednotce intenzivní péče v letech 2019–2021. Monitorování se provádělo na horních končetinách u 83 pacientů a na dolních končetinách u 44 pacientů. Akutní končetinová ischemie byla zjištěna u tří (6 %) pacientů s monitorováním dolní končetiny a u osmi (9 %) s monitorováním horní končetiny. Primárně se u pacientů provádělo zahřívání končetiny, infuze heparinu (10 μ/kg/h) i infuze perlinganitu (glycerol-trinitrátu) (0,5 μg/kg/h). Pokud to stav pacienta dovolil, neaplikovaly se vazokonstriktory (adrenalin, noradrenalin atd.). Všichni pacienti reagovali na farmakoterapii a konzervativní léčbu, takže ani v jednom případě nebylo nutno volit chirurgické řešení. U žádného pacienta ani nebylo nutno provést amputaci, protože se krevní oběh v končetinách postupně obnovil. Závěry: Časná a správně zvolená a provedená intervence může významně snížit mortalitu a morbiditu ALI, která se ve skupině novorozenců vyskytuje vzácně. Stále se ještě vyvíjejí různé strategie léčby a množství zkušeností je omezené. I když se zdá, že chirurgické řešení je častější u dospělých pacientů, pozitivních výsledků u akutní končetinové ischemie – vzhledem k technické obtížnosti chirurgického výkonu a odlišné základní patofyziologii dětské popul
Background: Acute limb ischemia (ALI) is a rare but serious condition that can cause significant lifetime morbidity or mortality in the pediatric population. It is usually post-traumatic or iatrogenic. Results: In the study, 127 newborns who were followed up with arterial monitoring in our intensive care unit between 2019-2021 were screened retrospectively. Invasive arterial monitoring was performed on the upper extremities in 83 patients and the lower extremities in 44 patients. Acute extremity ischemia was observed in three (6%) patients who underwent lower extremity monitoring and eight (9%) patients with upper extremity ischemia. Primarily, extremity warming, heparin infusion (10 μ/kg/h), perliganit (Glycerol Trinitrate) infusion (0.5 μg/kg/h) were applied to the patients. Vasoconstrictor agents (adrenaline, noradrenaline etc.) have been avoided in patients whenever possible. All of the patients responded to medical and conservative treatment, and no surgical treatment was applied. Amputation was not applied to any of the patients, and their limb circulations were gradually restored. Conclusions: Early and correct intervention can significantly reduce mortality and morbidity in ALI, which is rare in the newborn group. Management strategies are still evolving and experience is limited. Although the surgical approach seems to be more prominent in adult patients, positive results can be obtained in newborn acute limb ischemia with close clinical follow-up and medical approach due to technical difficulties and different underlying pathophysiology in the pediatric population.
- MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Peripheral Arterial Disease epidemiology etiology drug therapy blood MeSH
- Catheterization, Peripheral * adverse effects MeSH
- Statistics as Topic MeSH
- Heart Defects, Congenital * complications MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Clinical Study MeSH
Hypertrofická kardiomyopatie je geneticky podmíněné onemocnění charakterizované zesílením stěn myokardu levé komory nad 15 mm při absenci jiné vysvětlující příčiny. Součástí diagnostiky a léčby pacientů s hypertrofickou kardiomyopatií je pátrání po obstrukci ve výtokovém traktu levé komory a její management, stratifikace rizika náhlé srdeční smrti, provedení genetického testování a screening rodinných pří- slušníků. Kazuistika popisuje případ mladého muže s chronickým dermatologickým onemocněním na trvalé biologické léčbě, s pozitivní rodinnou anamnézou náhlé srdeční smrti, u něhož byla nově diagnostikována hypertrofická kardiomyopatie se symptomatickou obstrukcí ve výtokovém traktu levé komory. U pacienta bylo indikováno provedení alkoholové septální ablace, která měla dobrý hemodynamický i klinický výsledek. V primární prevenci náhlé srdeční smrti mu byl implantován implantabilní kardioverter-defibrilátor, došlo však ke komplikaci v podobě časné infekce kapsy přístroje při pacientově kožním onemocnění a rozvoji reaktivní perikarditidy.
Hypertrophic cardiomyopathy is a genetic disorder characterized by increased left ventricle thickness greater than 15 milimetres in the absence of any other explanatory cause. The diagnostics and treatment of patients with hypertrophic cardiomyopathy include search for a management of left ventricular outflow tract obstruction, risk stratification for sudden cardiac death and genetic testing and screening of family members. This case report describes a young man with a chronic skin disease on permanent biological therapy who had a family history of sudden cardiac death and had recently been diagnosed with hypertrophic cardiomyopathy with symptomatic left ventricular outflow tract obstruction. An alcohol septal ablation had been indicated, resulting in improved hemodynamic and clinical outcome. An implantable cardioverter-defibrillator was implanted for the primary prevention of sudden cardiac death. However, an early device pocket infection due to the patient's skin disease and the development of reactive pericarditis led to complications.
- MeSH
- Medical History Taking MeSH
- Defibrillators, Implantable adverse effects MeSH
- Adult MeSH
- Echocardiography MeSH
- Electrocardiography MeSH
- Hemodynamic Monitoring MeSH
- Hidradenitis Suppurativa * complications MeSH
- Cardiomyopathy, Hypertrophic * diagnostic imaging genetics complications therapy MeSH
- Humans MeSH
- Death, Sudden, Cardiac prevention & control MeSH
- Pericarditis etiology drug therapy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
This study aimed to evaluate the ability of selected microRNAs as biomarkers of atrial fibrillation (AF) in ischemic stroke patients in comparison with other established biochemical biomarkers. A prospective case-control study of consecutive ischemic stroke patients with AF admitted to a comprehensive stroke center was conducted. The control group consisted of patients with ischemic stroke with no AF detected on prolonged (at least 3 weeks) Holter ECG monitoring. As potential biomarkers of AF, we analyzed the plasma levels of microRNAs (miR-21, miR-29b, miR-133b, miR-142-5p, miR-150, miR-499, and miR-223-3p) and 13 biochemical biomarkers at admission. The predictive accuracy of biomarkers was assessed by calculating the area under the receiver operating characteristic curve. The data of 117 patients were analyzed (61 with AF, 56 with no AF, 46% men, median age 73 years, median National Institutes of Health Stroke Scale 6). Biochemical biomarkers (N-terminal pro-B-type natriuretic peptide [NT-proBNP], high-sensitivity cardiac troponin I, fibrinogen, C-reactive protein, eGFR, and total triglycerides) were significantly associated with AF. NT-proBNP had the best diagnostic performance for AF with area under the receiver operating characteristic curve 0.92 (95%, CI 0.86-0.98); a cutoff value of >528 ng/L had a sensitivity of 79% and a specificity of 97%. None of the other biomarkers, including microRNAs, was associated with AF. Conventional biochemical biomarkers (NT-proBNP, high-sensitivity cardiac troponin I, fibrinogen, C-reactive protein, eGFR, and triglycerides), but not microRNAs (miR-21, miR-29b, miR-133b, miR-142-5p, miR-150, miR-499, and miR-223-3p) were significantly associated with AF in our ischemic stroke cohort.
- MeSH
- Biomarkers * blood MeSH
- C-Reactive Protein analysis MeSH
- Atrial Fibrillation * blood diagnosis genetics MeSH
- Ischemic Stroke * blood diagnosis MeSH
- Middle Aged MeSH
- Humans MeSH
- MicroRNAs * blood MeSH
- Natriuretic Peptide, Brain blood MeSH
- Peptide Fragments blood MeSH
- Prospective Studies MeSH
- ROC Curve MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Case-Control Studies MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Observational Study MeSH
BACKGROUND: Cardiac magnetic resonance (CMR) plays a major diagnostic role in acute myocarditis (AM) in children as biopsy is rarely performed in this age group. Contribution of standard echocardiography (ECHO) is limited in AM, but speckle tracking echocardiography (STE) quantitatively characterizes myocardial function, with good sensitivity for detecting subclinical left ventricular (LV) dysfunction and regional kinetics disorders beyond the site of inflammation. This work aimed to evaluate the diagnostic potential of STE as compared with CMR findings in pediatric patients with AM. METHODS: The study was conducted during 2022-2023. Troponin, electrocardiography, ECHO with STE, and CMR with early and late enhancement were performed on each patient. Affected heart segments were analyzed by both STE and CMR, and the correlation of the two methods was assessed. RESULTS: During the study period, 20 children were diagnosed with AM [14 boys, 6 girls; mean age 12 years (median 14)]. On ECHO, three patients had a deviation in LV biometry, and four patients had a mild systolic function disorder. STE showed at least one affected cardiac segment in all patients, most often the inferolateral segment (16/20; 80%). Of the 20 patients, STE showed a reduction in LV global longitudinal strain in 13 (65%) patients. In all patients, CMR identified an inflammatory focus, most frequently inferolateral (15/20; 75%). The strongest accordance between STE and CMR was observed for the involvement of anterolateral segments (k = 0.88) and the weakest for inferoseptal damage (k = 0.4). CONCLUSIONS: STE can provide important diagnostic information in pediatric patients with AM. This modality supports the detection of early regional edema and subclinical myocardial dysfunction and can determine the impairment severity. STE is non-invasive and repeatable without the need for special patient preparation or for general anesthesia.
- Publication type
- Journal Article MeSH
