Scenariusz zajęć włączających

The aim of this article is to present of elements which influence on shaping the evry day life skills; cooperation, integration and inclusion. The scenario of merging is directed to primary pupils class 4-6 to carry out during form period. To spread this notion as a crucial part of education UNICEF is involved as well as another organizations.Celem artykułu jest przedstawienie elementów kształtowania umiejętności życiowych, takich jak: współpraca, integracja i włączanie. Proponowany scenariusz zajęć włączających skierowany jest do uczniów szkoły podstawowej z klas 4-6, do realizacji na godzinie wychowawczej. W upowszechnianie tej koncepcji, jako istotnego ogniwa edukacji dzieci i młodzieży, włącza się między innymi organizacja międzynarodowa UNICE

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis

Background: Transthyretin amyloidosis (ATTR) is a rare, life-threatening systemic disorder. We present first findings on the cardiac hereditary ATTR in Poland.Methods: Sixty-eight consecutive patients with suspected or known cardiac amyloidosis were evaluated, including blood tests, standard 12-lead electrocardiography (ECG) and transthoracic echocardiography. ATTR was confirmed histologically or non-invasively using 99mTc-DPD scintigraphy. Transthyretin (TTR) gene sequencing was performed.Results: In 2017–2019, 10 unrelated male patients were diagnosed with hereditary ATTR. All patients had very uncommon TTR gene mutations: 7 patients had p.Phe53Leu mutation, 2 patients had p.Glu109Lys mutation and 1 patient had p.Ala101Val mutation. The age of onset ranged from 49 to 67 years (mean [SD] age, 58.7 [6.4] years). On ECG, most patients (70%) had pseudoinfarct pattern and/or low QRS voltage. The maximal wall thickness (MWT) on echocardiography varied considerably among the patients from moderate (16 mm) to massively increased (30 mm). Most patients (90%) had decreased left ventricular ejection fraction (mean [SD], 43 [11] %). On follow-up, we observed progressive heart failure in almost all cases. The first patient with p.Phe53Leu mutation died of heart failure, the second died suddenly, the third successfully underwent combined heart and liver transplant with 15 months survival from the surgery. The patient with p.Ala101Val mutation died of stroke.Conclusions: According to available data, this is the first time that the types of TTR mutations and the clinical characteristics of Polish patients with cardiac hereditary ATTR have been described. Previous literature data about Polish background in families with p.Phe53Leu mutation and the present results, suggest that this TTR mutation might be endemic in the Polish population

Amyloidoza łańcuchów lekkich immunoglobulin z punktu widzenia kardiologa

Light-chain amyloidosis (amyloidosis AL) is diagnosed in approx. 70% of patients with cardiac amyloidosis. This type of amyloidosis has the worst prognosis, especially if the diagnosis is made in advanced stages. The majority of patients are referred to a cardiologist, but unfortunately only every fifth of them has the proper diagnosis. Therefore, strategies promoting early diagnosis are important. One of them is the measurement of serum free light chains concentration in every patient with heart failure with preserved ejection fraction. The acknowledgement of free light chains (FLCs) cardiotoxicity rendered the picture of AL amyloidosis from infiltrative cardiomyopathy into a toxic one. Best improvement in regard to heart failure is achieved upon hematological treatment resulting in decrease of FLCs concentration. Therefore, cardiological treatment is rather a supportive therapy. The role of cardiologist is the rapid diagnosis of the disease and referral of the patient to the hematologist. The standard heart failure treatment encompassing use of beta-blockers and angiotensin converting enzyme inhibitors aggravates orthostatic hypotension and congestion. Instead, up-to-date hematological treatment improves the prognosis of AL amyloidosis markedly, as long as early diagnosis is made.Amyloidozę łańcuchów lekkich (amyloidozę AL) rozpoznaje się u około 70% pacjentów z amyloidozą serca. Ta postać choroby wiąże się z najgorszym rokowaniem, szczególnie jeśli wykrywa się ją na zaawansowanym etapie. Kardiolog jest najczęściej odwiedzanym specjalistą przez pacjentów z amyloidozą AL. Niestety tylko u co piątego pacjenta jest stawiana właściwa diagnoza. Dlatego ważne jest, aby promować działania umożliwiające wczesne stwierdzenie choroby. Należy do nich oznaczanie wolnych łańcuchów lekkich (FLC) w surowicy u pacjentów z niewydolnością sercaz zachowaną frakcją wyrzutową. Wykazanie kardiotoksycznej roli FLC zmieniło postrzeganie amyloidozy AL jako choroby polegającej wyłącznie na pozakomórkowym gromadzeniu się nieprawidłowych złogów białkowych. Największą poprawę funkcji serca uzyskuje się, obniżając stężenie FLC w surowicy poprzez leczenie cytoredukcyjne. Leczenie kardiologiczne ma znaczenie uzupełniające. Rola kardiologa sprowadza się do jak najszybszego rozpoznania choroby i przekazania pacjenta do hematologa. Standardowa farmakoterapia niewydolności serca, obejmująca beta-adrenolityki i inhibitory konwertazy angiotensyny, u pacjentów z amyloidozą wywołuje nasilenie hipotensji ortostatycznej i objawów zastoinowych. Natomiast dzięki nowoczesnemu leczeniu cytoredukcyjnemu i antyamyloidowemu istotnie poprawiły się wyniki leczenia, pod warunkiem wczesnego rozpoznania amyloidozy AL

Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience

Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.Methods: We enrolled 36 RCM patients in our tertiary cardiac department. All patients were screened for CA. Genetic testing was performed in 17 patients without CA.Results: Pathogenic or likely pathogenic gene variants were found in 86% of patients, including 5 novel variants. Twenty patients died, and 4 had a heart transplantation during the study. Median overall survival was 29 months (8–55). The univariate Cox models analysis indicated that systolic and diastolic blood pressure, GDF-15, hs-TnT, NT-proBNP, left ventricular stroke volume, the ratio of the transmitral early peak velocity (E) estimated by pulsed wave Doppler over the early mitral annulus velocity (e’), tricuspid annulus plane systolic excursion, early tricuspid valve annular systolic velocity, the presence of pulmonary hypertension, and pericardial effusion influenced survival (P <0.05). A worse prognosis was observed in patients with GDF-15 >1316 pg/ml, hs-TnT >42 ng/l, NT-proBNP >3383 pg/ml, and pericardial effusion >3.5 mm (Kaplan-Meier analysis, log-rank test, P <0.001).Conclusions: Genetic testing should be considered in every RCM patient where light-chain amyloidosis has been excluded. Survival remains poor regardless of etiology. Increased concentrations of GDF-15, hs-TNT, NT-proBNP, and pericardial effusion are associated with worse prognosis. Further studies are warranted

The scenario of „integrating"

Celem artykułu jest przedstawienie elementów kształtowania umiejętności życiowych, takich jak: współpraca, integracja i włączanie. Proponowany scenariusz zajęć włączających skierowany jest do uczniów szkoły podstawowej z klas 4-6, do realizacji na godzinie wychowawczej. W upowszechnianie tej koncepcji, jako istotnego ogniwa edukacji dzieci i młodzieży, włącza się między innymi organizacja międzynarodowa UNICEF.The aim of this article is to present of elements which influence on shaping the evry day life skills; cooperation, integration and inclusion. The scenario of merging is directed to primary pupils class 4-6 to carry out during form period. To spread this notion as a crucial part of education UNICEF is involved as well as another organizations

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy

none10siArrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study aims to evaluate the prevalence of PKP2 variants and examine genotype-phenotype correlation in Polish ARVC cohort. All 56 ARVC patients fulfilling the current criteria were screened for genetic variants in PKP2 using denaturing high-performance liquid chromatography or next-generation sequencing. The clinical evaluation involved medical history, electrocardiogram, echocardiography, and follow-up. Ten variants (5 frameshift, 2 nonsense, 2 splicing, and 1 missense) in PKP2 were found in 28 (50%) cases. All truncating variants are classified as pathogenic/likely pathogenic, while the missense variant is classified as variant of uncertain significance. Patients carrying a PKP2 mutation were younger at diagnosis (p = 0.003), more often had negative T waves in V1-V3 (p = 0.01), had higher left ventricular ejection fraction (p = 0.04), and were less likely to present symptoms of heart failure (p = 0.01) and left ventricular damage progression (p = 0.04). Combined endpoint of death or heart transplant was more frequent in subgroup without PKP2 mutation (p = 0.03). Pathogenic variants in PKP2 are responsible for 50% of ARVC cases in the Polish population and are associated with a better prognosis. ARVC patients with PKP2 mutation are less likely to present left ventricular involvement and heart failure symptoms. Combined endpoint of death or heart transplant was less frequent in this group.noneElżbieta K Biernacka , Karolina Borowiec , Maria Franaszczyk, Małgorzata Szperl , Alessandra Rampazzo, Olgierd Woźniak , Marta Roszczynko , Witold Śmigielski , Anna Lutyńska , Piotr HoffmanK Biernacka 1, Elżbieta; Karolina Borowiec, 2; Maria Franaszczyk, 3; Małgorzata Szperl, 3; Rampazzo, Alessandra; Olgierd Woźniak, 1; Marta Roszczynko, 3; Witold Śmigielski, 5; Anna Lutyńska, 6; Piotr Hoffman,

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation

Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients.Methods and patients. Clinical data and necessary examinations were collected from patients diagnosed with ATTR-FAP at the Department of Neurology of Medical University of Warsaw between 1970 and 2019.Results. 16 patients from eight unrelated families with five different TTR mutations were identified. The family with Val71Ala TTR mutation presented with early onset severe progressive polyneuropathy, with marked visual symptoms in a few patients. The next family with Ile73Val TTR mutation developed symptoms in middle age, and presented with mixed neuropathic and cardiologic phenotype. Four unrelated families were found to have the Phe33Leu TTR mutation with mixed neuropathic and cardiologic phenotype and late onset of symptoms. Other TTR mutations identified were: Val30Met and Asp38Val, both with late onset sensory, motor and autonomic neuropathy.Conclusion. Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families