Gotlands geografiska läge gör att många behöver ta sig till och från fastlandet med båt eller flyg. För åkerinäringen som kör gods till och från Gotland är färjan det enda alternativet. Destination Gotland är den enda aktör som främjar resor till och från fastlandet. Den senaste tiden har Destination Gotland haft plötsliga prishöjningar som i sin tur har väckt starka reaktioner bland företag, politiker och gemene man.  Syftet med studien är att undersöka hur åkerinäringen på Gotland hanterar plötsliga prisförändringar. Hur de arbetar för att vara resilienta och hur de arbetar med att bibehålla relationerna när det uppstår en kris/plötslig händelse. Vidare söker studien svar på hur åkerinäringen arbetar för att vara resilienta.  Denna studie genomfördes med en kvalitativ metod baserad på semistrukturerade intervjuer. Det empiriska materialet har tillhandahållits av sju intervjuer från sju olika företag på Gotland. De sju företagen varier, vad gäller storlek, antal anställda och Intervjuerna genomfördes med chefer och VD:ar från respektive företag.  Resiliens som begrepp, strategier om förhandlingsteknik, anpassningar, risk-hanteringen och teorin om social-utbytesteori utgör det teoretiska ramverket för denna studie.  Resultatet visar att åkeriföretagen i första hand försöker förhandla utifrån ett relationsperspektiv, där de önskar att samtliga parter blir nöjda, och att detta främjar långsiktigt företagsamheten. Företagen arbetar med anpassningar när någon plötslig händelse inträffar och kan anpassa verksamheten till viss mån. Det har framkommit att anpassningsförmågan varierar beroende på företagens storlek, resurser och tidigare erfarenheter. Genom att teckna rörliga priser i avtalet och införandet av ett ”båttillägg” blir de större företagen mer försäkrade att klara av den plötsliga prisförändringen från Destination Gotland än de små företagen.  Uppföljning, förtroende och kommunikation är tre nyckelord som framkom frekvent i det empiriska datamaterialet. Åkeriföretagen genomför uppföljningar för att säkerställa att kundernas förväntningar har uppfyllts. Företagen i studien engagerar sig i händelser som är av betydelse för företaget och kunderna och strävar efter att vara transparenta i sitt arbete. Förtroende är en central aspekt för företagen och de strävar efter att etablera ökat förtroende samt att bygga och bevara hållbara kundrelationer. / The geographical location of Gotland means that many people need to get to and from the mainland by boat or plane. For the haulage industry that haul goods to and from Gotland, the ferry is the only option to get to the mainland. Sudden price increases from Destination Gotland as an actor to provide travel to and from the mainland have caused many strong reactions among companies, politicians, and ordinary people.  The purpose of the study is to investigate how the trucking industry on Gotland handles sudden price changes. How they work to be resilient but also how they work to maintain relationships when a crisis/sudden event occurs. Furthermore, the study seeks answers to how the trucking industry works to be resilient.  A qualitative survey with semi-structured interviews is chosen for the implementation of this study. The empirical material consists of seven interviews from seven different companies on Gotland. The seven companies are of different sizes in terms of the number of employees and the interviewees are managers and CEOs of the company.  Resilience as a concept, strategies on negotiation techniques, adaptations, risk management and the theory of social exchange theory constitute the theoretical framework for this study.  The result shows that the haulage companies always try to negotiate from a relational perspective where they want all parties to be satisfied, because they believe that this promotes business in the long run. Companies work with adaptations when something sudden happens and companies can adapt operations to a certain extent when something unexpected happens. It has emerged that the ability to adapt varies depending on size, resources, and previous experiences. With agreements on variable prices, which in this case are called boat supplements, the larger companies are more insured to cope with the sudden price change from Destination Gotland.  Follow-ups, trust, and communication are three keywords that appeared many times in the empirical data material. The haulage companies do follow-ups to ensure that expectations have been met. The companies in the study constantly communicate what happened and try to be transparent in their work. Trust that they built over time and creating increased trust is something that the company strives to maintain continued sustainable relationships.

Профилактика внезапной сердечной смерти спорте является актуальной задачей, решение которой способно значительно улучшить показатели продолжительности и качества жизни спортсменов. Проблема состоит в отсутствии рекомендаций по планированию тренировочного процесса и профилактике возникновения угрожающих жизни состояний при занятиях спортом у лиц с синдромом дисплазии соединительно ткани. Цель исследования – повышение адаптивных возможностей организма и профилактику осложнений у молодых спортсменов с дисплазией соединительной ткани. В соответствии с целью была выдвинута гипотеза, что рациональное дозирование физических нагрузок в ходе тренировочного процесса, с учетом индивидуальных особенностей организма, у молодых спортсменов с синдромом дисплазии соединительной ткани позволит улучшить адаптацию к физическим нагрузкам, а также снизить риск развития осложнений дисплазии соединительной ткани, в том числе внезапной сердечной смерти. / Prevention of sudden cardiac death in sports is an urgent problem of the modern society. It is critically important to improve life expectancies and quality of life of competitive athletes. The main issue is the absence of recommendations for exercise prescription and training schedule in terms of connective tissue dysplasia syndrome. The purpose of the study was to increase the adaptation abilities of an organism and prevention of possible health complications in young athletes with connective tissue dysplasia. It was hypothesized that rational physical loads dozing in accordance to individual capacity of these individuals will result in better adaptation to exercise loads and decrease of the possible risks, including sudden cardiac death.

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No description available.

<p>  </p> <p><strong>Background: </strong></p> <p>Torsades de pointes (TdP) is a polymorphic ventricular tachycardia (VT) associated with heart rate-corrected QT interval (QTc) prolongation on the electrocardiogram (ECG). TdP can cause sudden cardiac arrest (SCA), a catastrophic outcome. The antiarrhythmic drugs dofetilide and sotalol can cause QTc prolongation and arrhythmias, as can more than 200 other medications available on global markets. Heart failure (HF) with reduced ejection fraction (HFrEF) is a risk factor for drug-induced TdP, and HFrEF heightens sensitivity to drug-induced QTc lengthening. However, ~55% of patients with HF have preserved, rather than reduced, ejection fraction. It remains unknown whether patients with HF with preserved ejection fraction (HFpEF) are at increased risk for drug-induced VT/SCA. Assessment of the risk of drug-induced VT/SCA in HFpEF patients is important, so that recommendations can be made regarding the safety of QTc-prolonging drugs and need for enhanced ECG monitoring in this population. </p> <p><strong>Objective:</strong></p> <p>In aim 1, we sought to determine the risk of VT and SCA associated with dofetilide and sotalol in patients with HFpEF. In aim 2, we were able to use QTc interval to determine the odds of dofetilide/sotalol-associated QT interval prolongation in patients with HFpEF. In Aim 3, we investigated the influence of HFpEF on VT and SCA associated with a broader group of drugs known to cause TdP (“known “TdP drugs”), as designated by the QT drugs list at www.crediblemeds.org. </p> <p><strong>Methods:</strong></p> <p>In aim 1, we used Medicare claims (2014-2016) and ICD-9/10 codes to identify patients taking the QT interval-prolonging drugs dofetilide or sotalol, which are used commonly in patients with HF and atrial fibrillation, as well as non-dofetilide or sotalol users among 3 groups: HFpEF, HFrEF, and no HF. Multinomial propensity score-matching was performed. Cochran–Mantel–Haenszel statistics and standardized differences were used to compare baseline characteristics. A generalized Cox proportional hazards model was used to estimate hazard ratios (HRs) and test the association of VT and SCA among dofetilide/sotalol users, HFpEF, HFrEF, and no HF.</p> <p>In Aim 2, the data source was electronic health records from the Indiana Network for Patient Care (February 2010 to May 2021). After removing patients with overlapping diagnoses of HFpEF and HFrEF, no diagnosis code, absence of QT interval records, and no validated record of using dofetilide or sotalol, we identified patients taking dofetilide or sotalol among three groups: HFrEF, HFpEF, and no HF. Cochran–Mantel–Haenszel statistics were used to compare baseline characteristics. QT interval prolongation was defined as heart rate-corrected QT (QTc) > 500 ms during dofetilide/sotalol therapy. Unadjusted odds ratios (OR) of QT interval prolongation were determined by univariate analysis, and adjusted ORs were determined by generalized estimating equations (GEE) with logit link to account for an individual cluster with different times of hospitalization and covariates.</p> <p>In aim 3, we used Medicare enrollment in fee-for-service medical and pharmacy benefits (2014 to 2016) and ICD-9/10 codes, we identified patients taking drugs known to cause torsades de pointes (TdP drugs; www.crediblemeds.org) and non-TdP drug users among three groups: HFrEF, HFpEF, and no HF. Multinomial propensity score-matching was performed to minimize baseline differences in covariates (patient demographics, comorbidities, health care utilization and drug history). Cochran–Mantel–Haenszel statistics and standardized differences were used to compare baseline characteristics. A generalized Cox proportional hazards model was used to estimate HRs and test the association of VT and SCA among TdP drug users with HFpEF, HFrEF, and no HF.</p> <p><strong>Results:</strong></p> <p>In Aim 1, VT and SCA occurred in 166 (10.68%) and 16 (1.03%), respectively, of 1,554 dofetilide/sotalol users with HFpEF, 543 (38.76%) and 40 (2.86%) of 1,401 dofetilide/sotalol users with HFrEF, and 245 (5.06%) and 13 (0.27%) of 4,839 dofetilide/sotalol users with no HF. The adjusted HR for VT in patients with HFrEF was 7.00 (95% CI 6.12-8.02) and in patients with HFpEF was 1.99 (1.71-2.32). The risk of VT associated with dofetilide/sotalol was increased across the overall study population (HR: 2.47 [1.89-3.23]). Use of dofetilide/sotalol increased the risk of VT in patients with HFrEF (HR: 1.53 [1.07-2.20]) and in those with HFpEF (HR: 2.34 [1.11-4.95]). However, while the overall risk of SCA was increased in patients with HFrEF (HR: 5.19 [4.10-6.57]) and HFpEF (HR: 2.53 [1.98-3.23]) compared to patients with no HF, dofetilide/sotalol use was not significantly associated with an increased risk of SCA.</p> <p>In Aim 2, QTc prolongation associated with dofetilide/sotalol occurred in 51.2% of patients with HFpEF, 70.1% of patients with HFrEF, and 29.4% of patients with no HF. After adjusting for age, sex, race, serum potassium and magnesium concentrations, kidney function, concomitant drug therapy, and comorbid conditions, the adjusted odds of having QTc interval larger than 500ms during the hospital stay were 5.23 [3.15-8.67] for HFrEF and 1.98 [1.17-3.33] for HFpEF with no HF as the reference group. </p> <p>In Aim 3, of 23,910 known TdP drug users with HFrEF, VT and SCA occurred in 4,263 (17.8%) and 493 (2.1%) patients, respectively. In comparison, among 31,359 known TdP drug users with HFpEF, VT and SCA occurred in 1,570 (5.0%) and 340 (1.1%) patients. VT and SCA occurred in 3,154 (0.8%) and 528 (0.1%) of 384,824 known TdP drug users without HF. The overall HR of both VT and SCA was increased in patients with HFrEF (HR: 7.18 [6.13-8.40])  and in those with HFpEF (HR: 2.09 [1.80-2.42]). The risk of VT associated with known TdP drugs was increased across the overall population (HR: 1.34 [1.20-1.51]). Use of known TdP drugs significantly increased the risk of VT and SCA in patients with HFrEF (HR: 1.34 [1.07-1.67]), but not in patients with HFpEF.</p> <p><strong>Conclusion:</strong></p> <p>HFpEF may exhibit an enhanced response to drug-associated VT, and is associated with a higher risk of drug-associated QTc interval prolongation. Further study is needed to identify methods to minimize this risk for patients with HFpEF requiring therapy with dofetilide, sotalol, or drugs known to cause TdP. </p>

No / We have probed the coupling between flow and concentration fluctuations in polymer blends using small-angle neutron scattering. We utilized a recirculating cell with a slot die, enabling us to measure the behavior at the entrance, within and at the exit of a contraction-expansion flow. While, as expected, anisotropy was observed in all nonquiescent experiments, the correlation lengths associated with the concentration fluctuations are found to be "stretched" more in the direction perpendicular to the flow at all positions along the centerline of the flow, except at the slot die exit. To gain insight into the observations, we present calculations of the scattering based on a multiscale approach, which bridges the gap between macroscopic Newtonian fluid dynamics and the convection of nanoscale concentration fluctuations. However, we find that this model contains insufficient physics to correctly describe our observations. Consequently, we argue that the deformation of the correlation length is primarily due to the coupling between weakly non-Newtonian stresses and thermodynamics

Der Plötzliche Herztod ist eine der häufigsten Todesursachen in Europa, in den USA sogar die häufigste Ursache aller natürlichen Todesfälle. Ziel der experimentellen und klinischen Forschung ist das Erkennen und Verhindern ("Prediction and Prevention") der malignen Herzrhythmusstörungen. Schwerpunkt der wissenschaftlichen Arbeit bilden die experimentellen Untersuchungen hinsichtlich der Mechanismen von Herzrhythmusstörungen. Durch die Entwicklung neuartiger Mappingsysteme konnte erstmalig gezeigt werden, dass im Tiermodell Kammerflimmern initial fokal und geordnet entsteht. Die bisherigen Untersuchungen und Daten erweitern unser Wissen zur kardialen Defibrillation und zum Entstehen von malignen Herzrhythmusstörungen, stellen aber nur einen Baustein im Gesamtverständnis des Plötzlichen Herztodes dar. Weitere begonnene oder geplante Projekte beschäftigen sich mit Herzrhythmusstörungen bei Vorliegen einer Kardiomyopathie und akuter Ischämie, sowohl im Tiermodell als auch beim Patienten. Neuartige Mappingtechnologien und Tiermodelle können helfen, die Mechanismen zu verstehen, die Therapie von Herzrhythmusstörungen zu verbessern und Therapieverfahren weiterzuentwickeln. / Sudden cardiac death is one of the leading causes of death in Europe, and the leading cause of all natural deaths in the USA. The primary aim of experimental and clinical research is the "prediction and prevention" of lethal ventricular arrhythmias. The focus of this thesis is on animal studies investigating the mechanisms of arrhythmias. Using a novel multichannel electrical cardiac mapping technique we were able to demonstrate that whatever generates fibrillation activations it locates at a small region in the LV apex. This research will widen our understanding of defibrillation and causes of lethal ventricular arrhythmias, but is still only a piece of the puzzle called sudden cardiac death. New initiated or planed project are focusing on arrhythmias in patients and animals with heart failure or acute ischemia. Novel mapping techniques and animal models might further widen our understanding of the mechanisms and might help to develop and improve therapeutic options.

In einer retrospektiven Studie wurden 119 Patienten mit Hörsturz auf die Aussagefähigkeit der Umfelddiagnostik bezüglich einer sekundären Prävention beim Hörsturz untersucht. Außerdem sollte anhand der vorliegenden Analyse die Hypothese überprüft werden, dass Störungen im Innenohr durch Veränderungen der Halswirbelsäule oder des Kardiovaskulären- und Zentralnervensystems hervorgerufen werden können. 57 % (68/119) der computertomographisch untersuchten Patienten waren neurologisch unauffällig, und 45,6 % der Patienten hatten physiologische Halswirbelsäulen-Veränderungen, die auch in der Normalbevölkerung festzustellen sind. Im internistischen Bereich wurden die häufigsten kardiovaskulären Risikofaktoren und die Wandbeschaffenheit der Halsgefäße auf hämodynamische Stenosen ausgewertet. Bei der doppler-sonographischen Untersuchung der Karotisgefäße fanden sich keine Hinweise auf hämodynamisch wirksame Stenosen. Aufgrund dieses Ergebnisses sollte die doppler-sonografische-Untersuchung der Karotisgefäße nicht obligat im Rahmen der Umfelddiagnostik durchgeführt werden. Im untersuchten Patientenkollektiv lassen sich folgende Risikofaktoren (RF) erheben: Hypertonie (19 %), Hypercholesterinämie (28 %), Hypertriglyceridämie (20 %), Adipositas (31 %), Nikotinabusus (26 %) und Diabetes mellitus (3,3 %). Dabei betrug der Anteil an keinem oder einem RF Belasteten 62 %, zwei bis drei RF besaßen 33 % der Untersuchten. 5 % der Hörsturzpatienten hatten vier bis fünf RF. Im Risikofaktorprofil zeigt sich im Vergleich der Hörsturzgruppe mit der Normalbevölkerung eine vermehrte Prävalenz für Cholesterin und Adipositas. Die restlichen Risikofaktoren haben ein geringeres oder gleich häufiges Vorkommen wie in einer unabhängigen Bevölkerungsuntersuchung. In Hinblick auf die Lebensqualität der Patienten und in einer Zeit von immer knapper werdenden Finanzressourcen ist ein rationaler Einsatz der verschiedenen Verfahren in der Umfelddiagnostik beim Hörsturz zu fordern. Auf kostenintensive und den Patienten belastende Untersuchungen, wie z.B. das HWS-Röntgen oder die interdisziplinären Konsiliar untersuchungen kann nach der vorliegenden Studie verzichtet werden. Es sollte zwischen der routinemäßigen Umfelddiagnostik und der gezielten Diagnostik unterschieden werden. Spezielle konsiliarische Untersuchungen sollten nur bei anamnestischem Hinweis erfolgen. / A retrospective study was conducted with involvement of 119 patients with sudden deafness who were investigated for the amount of information potentially obtainable from environmental diagnostics with regard to secondary prevention of sudden deafness. The analytical results were additionally used to check on the hypothesis according to which disorders to the inner ear might be caused by lesions to the cervical spine or cardiovascular and central nervous systems. The average age of the patients was 47.6 + 6.5 years (range: 20-87). Females accounted for 27 % (32/119) and males for 73 % (87/119). Computed tomography failed to reveal any neurological findings in 57 % (68/119), while 45.6 % of the patients exhibited physiological alterations of the cervical spine as were more or less common in the general population. In internist diagnosis, emphasis was laid on the most common cardiovascular risk factors and on the condition of cervical vessel walls. No signs indicative of haemodynamically relevant stenoses were recorded by Doppler sonography of carotid vessels. The following risk factors may be defined on the basis of results: hypertension (19 %), hypercholesterolaemia (28 %), adiposity (31 %), hypertriglyceridaemia (20 %), nicotine abuse (26 %) and diabetes mellitus (3.3 %). Not more than one risk factor was identified in the overwhelming majority of all patients (62 %), two or three risk factors in 33 % and more than three in 5 %. Higher prevalence of cholesterol and adiposity were the only factors by which patients differed from the general population. High-economy use of procedures in environmental diagnostics of sudden deafness has to be demanded to improve patients' quality of life and to cope with persistent shrinkage of financial resources. This study seems to suggest that cost-intensive and stressful examinations can be abandoned, such as X-ray of cervical spine, Doppler sonography or involvement of interdisciplinary consultant bodies. Routine environmental diagnostics should be replaced by targeted diagnostics. Specialised imaging and consultant-based investigations should not be conducted unless otherwise suggested by case history.

Die Hypertrophe Kardiomyopathie (Hypertrophic Cardiomyopathy, HCM) ist eine Erkrankung des Herzens, die durch eine Hypertrophie des Myokards und einem erhöhten Risiko für den plöztlichen Herztod charakteriziert ist. Die Erkrankung wird autosomal-dominant vererbt. Neun HCM-assozierte Genen wurden bisher beschrieben, die alle für Sarkomer-Proteine kodierend. Mutationen in den Genen für die essentielle (ELC) und regulatorische (RLC) leichte Myosin-Kette sind für ca. 1% bzw. 1-7% aller HCM-Fälle verantwortlich. Bisher gibt es nur wenige Informationen zum Krankheitsverlauf und zur Prognose bei HCM-Formen, die durch Mutationen in diesen Genen verursacht werden. Ziel dieser Studie war daher, das ELC- bzw. RLC-Gen in einem Kollektiv klinisch gut charakterisierter HCM-Patienten hinsichtlich möglicher krankheitsverursachender Mutationen zu analysieren. Darüber hinaus sollte untersucht werden, ob die hier identifizierten Mutationen mit einem malignen bzw. benignen Phönotyp assoziiert sind. Methoden: 71 unverwandete Patienten mit primärer HCM wurden mittels körperlicher Untersuchung, EKG und Echokardiographie evaluiert. Die aus Blutlymphozyten extrahierte DNA wurde mittels exonspezifischer PCR-Amplifikation und Single-strand-conformation-polymorphism (SSCP) Analyse auf Mutationen in den 6 Exons des ELC- und 7 Exons des RLC-Gens untersucht. Proben mit auffälligen Bandenmustern wurden direkt sequenziert. Ergebnisse: Die systematische Analyse ergab zwei krankheitsassoziierte Mutationen im RLC-Gen, die zu einem Aminosäurenaustausch führen. Im ELC-Gen wurden keine Mutationen gefunden. Die erste Mutation im RLC-Gen ist ein G zu A-Basenaustausch an Position c.64 im Exon 2, der zu einem Austausch von Glutamat durch Lysin im Codon 22 führt. Die zweite Variante verursacht eine Argininsubstitution durch Glutamin im Codon 58 aufgrund eines Basenpaaraustausches an Position c.173 im Exon 4 (G zu A). Beide Mutationen betreffen hoch-konservierte Aminosäuren in der amino-terminalen Domöne des RLC in der Nähe von möglichen Phosphorylierungs- bzw. Kalcium-Bindungsstellen. Zusätzlich wird die elektrische Ladung dieser Proteinregion durch den Aminosäurenaustausch verändert. Die Glu22Lys-Mutationen konnte in sieben Individuen der Familie K identifiziert werden und ist mit einer geringen septalen Hypertrophie, einer späten klinischen Manifestation sowie einem benignen Verlauf und einer guten Prognose assoziiert. Die Arg58Gln-Mutation ist ebenfalls mit einer moderaten Septumhypertrophie aber mit einem frühen Krankheitsbeginn und einem vorzeitigen Auftreten eines plätzlichen Herztodes in der Familie B assoziiert. Zusätzlich wurden mehrere Abweichungen von der Referenz-Sequenz, eine stumme Mutation sowie zwei "Single Nucleotide Polymorphisms" (SNPs) während des Screenings in beiden Genen identifiziert. Die SNPs verursachen keinen Aminosäureaustausch und beeinflussen nicht den Splei§vorgang, soweit dies durch ihre Lokalisation vorhersagbar ist. Schlussfolgerung: Zwei missense Mutationen konnten in der regulatorischen leichten Myosinkette identifiziert und sowohl mit einem benignen als auch einem malignen HCM-Phänotyp assoziiert werden. Diese Ergebnisse zeigen, dass die Genotypisierung wertvolle Informationen für die Risikostratifizierung, die genetische Beratung sowie für Therapiestrategien in der Hypertrophe Kardiomyopathie liefern kann. / Hypertrophic cardiomyopathy (HCM) is a heart disorder characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death. The disease is inherited as an autosomal-dominant trait. Nine disease-causing genes have been described all encoding for sarcomeric proteins. Mutations in the ventricular myosin essential (ELC) and regulatory (RLC) light chain genes are responsible approximately for 1% and 1 - 7% of all HCM cases, respectively. Limited data are available on the disease course and prognosis in HCM caused by mutations in these genes. Therefore, the present study was aimed to analyse the ELC and RLC genes for disease-causing mutations in a group of clinically well-characterized HCM patients. Further purpose was to assess whether the detected mutations are associated with malignant or benign phenotype in the respective families. Methods: 71 unrelated patients with HCM and 14 family members were evaluated using physical examination, ECG and echocardiography. DNA was extracted from blood lymphocytes. Screening of the 6 exons of the ELC gene and the 7 exons of the RLC gene was done by using PCR and single strand conformation polymorphism analysis (SSCP). Samples with aberrant band patterns were directly sequenced. Results: Systematic analysis revealed no mutation in the ELC gene but two disease-associated mutations leading to an amino acid exchange in the RLC gene. The first mutation was found in exon 2 of the RLC gene: a G>A nucleotide substitution at position c.64 caused a replacement of glutamic acid by lysine at codon 22. The second mutation was in exon 4 of the RLC gene: a G>A substitution at nucleotide c.173 led to a change of arginine to glutamine at codon 58. Both mutations affected highly conserved amino acids and were located in the amino terminal half of the RLC close to the putative phosphorylation and calcium-binding sites. They also changed overall electrical charge of this protein region. The Glu22Lys mutation was identified in seven individuals of family K and was associated with moderate septal hypertrophy, a late onset of clinical manifestation, benign disease course, and good prognosis. The mutation Arg58Gln showed also moderate septal hypertrophy, but, in contrast, it was associated with an early onset of clinical manifestation and premature sudden cardiac death in family B. Additionally, a number of sequence differences from reference genomic sequences, one silent mutation, and two single nucleotide polymorphisms (SNPs) were identified while screening the ELC and RLC genes. Detected SNPs did not cause an amino acid exchange and did not affect splicing process proceeding from their localisation. Conclusions: Two missense mutations were identified in the ventricular myosin regulatory light chain gene and associated with either benign or malignant HCM phenotypes. These findings show that genotyping could give valuable information for risk stratification, genetic counselling, and treatment strategies in hypertrophic cardiomyopathy.

The Thesis deals with the issue of provision of advanced life support in a Hospital. The main focus is the process, algorithm, of successive individual steps, its correct performance in practice should lead to the provision of effective CPR or to minimize subsequent post-resuscitation complications. The Thesis is mainly focused on non-medical health worker, as an important member of the healthcare team, his tasks, responsibilities and competences. The theoretical part will be processed according to the current guidelines of the European Resuscitation Council. Within the subsequent empirical part is included the methodology of realized research, the process of data collection, and the final interpretation of the results, followed by analysis and discussion. The survey is conducted by quantitative research, using the questionnaire survey. The aim of the research was to determine respondents' level of theoretical training, ways of continuing education and current conditions at selected workplaces. Based on detected results, the steps for nursing practice are proposed. KEY WORDS: advanced life support, sudden cardial arrest, sudden respiratory arrest, ventricular fibrillation, electrical defibrillation, algorithm of KPCR, post - resuscitation syndrome, activities of nurse.