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

Multi-use of the sea as a sustainable development instrument in five eu sea basins

This paper examines the concept of maritime multi-use as a territorial/SPATIAL governance instrument for the enhancement of sustainable development in five EU sea basins. Multi-use (MU) is expected to enhance the productivity of blue economy sectors, as well as deliver additional socio-economic benefits related to the environmental and social dimensions of sustainable development. The paper provides a definition of maritime multi-use and identifies the multi-uses with the highest potential in EU sea basins. In each sea basin, multi-use plays a different role as concerns sustainable development. For the Eastern Baltic Sea, the Mediterranean Sea and the Black Sea, the MU focus should remain on the environmental pillar of sustainable development. In the North Sea, North Atlantic and Western Baltic Sea, addressing social sustainability seems a key precondition for success of MU in enhancement of sustainable spatial development at sea. Moreover, it has been suggested to introduce MU key global strategies such as SDGs or Macroregional strategies and action plans and to supplement maritime spatial planning with sectoral incentives and educational efforts as key vehicles supporting MU. The paper concludes by identifying aspects which, in order to inform maritime spatial planning and maritime governance regarding a more conscious application of the aforementioned concept, require further investigation. Key tasks are related to: more profound evaluation of performance of policies supporting MUs, researching the impact of MU on societal goals and on the MU costs and benefits, including external ones, and finally identifying the impact of MU on the development of various sectors and regions on land

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 APPLICATION OF A BPL INDEX IN THE POLISH PART OF THE VISTULA LAGOON

This paper presents a biopollution assessment results with respect to macrozoobenthic non-indigenous species in the Polish part of the Vistula Lagoon. A biopollution level index (BPL) was applied and evaluated based on the studies on macrozoobenthos conducted in 2010 and 2012 within the frame of several individual projects. Overall 15 macrozoobenthic species were identified, 5 of which were aquatic alien species: Marenzelleria neglecta, Rhitropanopeus harrissi, Potamopyrgus antipodarum, Dreissena polymorpha and Rangia cuneata. According to the applied criteria the Vistula Lagoon was moderately influenced by invasive species

PUBLIC CONSULTATIONS AS A PART OF THE PLANNING PROTECTION OF NATURA 2000 SITES – THE PUCK BAY CASE STUDY

Natura 2000 network was implemented in Poland in 2004. Under current legislation, it is required to preserve or restore „favourable conservation status” of species and habitats within Natura 2000 sites by introducing appropriate "protection measures". Such measures for marine areas are protection and management plans. Elaboration of that documents for two sites of the Puck Bay area: PLB220005 and PLH220032 started in 2011 and was carried out for 38 months. Public consultations were one of its crucial element. The aim of this paper is to discuss the role of public consultations as a part of the conservation planning process in the Puck Bay area and conflicts analysis. Surprisingly, wide public participation, even though it was a difficult process, undoubtedly brought benefits, on both social and environmental fields

Analysis of red blood cell parameters in dogs with various stages of degenerative mitral valve disease

Although peripheral blood analysis has become increasingly automated, microscopy is the only available method for the diagnosis of anisocytosis and poikilocytosis. The aims of the study were to compare RBC volume data obtained with two different analysers and by manual assessment of smears and to compare this data between dogs in various stages of heart failure secondary to degenerative mitral valvular (DMV) disease. The impact of diuretic administration on RBC morphology was also assessed