Danon disease (DD) is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and variable degrees of intellectual disability. DD develops due to mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2). We report on a family exhibiting the clinical phenotype comprising of hypertrophic cardiomyopathy and ventricular pre-excitation, myopia and mild myo

Chronic myeloid leukemia (CML) is a myeloproliferative disorder caused by clonal proliferation of primitive hematopoietic stem cell. The median age at diagnosis is 55 to 60 years with less than 10% of patients younger 20 years. Incidence of CML in children in the Czech Republic is 0.106 cases/100 thousands per year. Here we report outcome of 38 pediatric patients (median age 12.5 years; range 1.8

Human leukocyte antigen (HLA)-matched sibling donor hematopoietic stem cell transplantation (HSCT) is available for only approximately 30% patients needing HSCT. Use of alternative donors is associated with a high incidence and severity of graft-versus-host disease (GVHD). Here we report our experience with GVHD prophylaxis using pre-transplant rabbit antithymocyte globulin (rATG), in addition to

Purpose: PFAPA syndrome is a benign, recurrent inflammatory disease of childhood. Tonsillectomy is one of the therapeutic options with a yet unexplained biological mechanism. We tested whether specific lymphocyte subsets recruited from blood to human tonsils participate in PFAPA pathogenesis. Methods: Paired tonsils/peripheral blood (PB) samples were investigated (a) from children with PFAPA that

The purpose of this study was to qualitatively evaluate recently introduced Model-based iterative reconstruction method (IMR) and routinely used iterative reconstruction algorithm iDose4 to investigate future dose reduction possibilities for abdominal CT exams. The study contained data from 34 patients who underwent abdominal CT in SkåneUniversityHospital Lund, Sweden. A low-dose scan (CTDIvol3.4

AIMS: Detecting changes in ventricular function after orthotopic heart transplantation (OHT) using transthoracic echocardiography (TTE) is important but interpretation of findings is complicated by lack of data on early graft adaptation. We sought to evaluate echocardiographic measures of ventricular size and function the first year following OHT including speckle tracking derived strain. We also

The ability to control the shape, distribution and composition of non-metallic inclusions has had an important impact on many aspects of steel making. One such impact is on the machinability. Ca-treatments have shown to be able to reduce the abrasiveness of oxide inclusions, improve chip-breaking and lead to formation of deposits that reduce tool wear. However, machining Ca-treated steels with Al2

The primary tool material when machining Ti6Al4V titanium alloy is uncoated straight cemented carbide. This study examines the performance of these materials during high-speed finish turning, and uses the advanced microscopy methods of SEM, (S)TEM, XEDS, and SAED to explore the fundamental tool wear mechanisms. The wear modes include a combination of flank wear and rake cratering. Four individual

Background: People with Parkinson’s disease (PD) have described their walking difficulties as linked to activity avoidance, social isolation, reduced independence and quality of life. There is a knowledge gap regarding predictive factors of perceived walking difficulties in people with PD. Such knowledge could be useful when designing intervention studies. This study aimed to investigate how perce

Background: The survival rate after childhood cancer has improved to 80%. The majority of childhood cancer survivors (CCS) will experience late complications which require follow up care, including access to their individual cancer treatment summary. The need to understand CCS needs and preferences in terms of ways to receive information e.g. digitally, becomes important. This study aims to throug

Signals of Opportunity Reflectometry (SoOp-R) employs the communication system, GNSS (Global Navigation Satellite System) constellation and other potential Signals of Opportunity (SoOp) as the transmitters. In recent years, it has gained increased interests. Several experiments have been carried out, however it is still in the initial development stage. Theoretical predictions of SoOp Reflectometr

Impact ejecta formation and emplacement is of great importance when it comes to understanding the process of impact cratering and consequences of impact events in general. Here we present a multidisciplinary investigation of a distal impact ejecta layer, the Blockhorizont, that occurs near Bernhardzell in eastern Switzerland. We provide unambiguous evidence that this layer is impact-related by con

Software breast phantoms are central to the optimization of breast imaging, where in many cases the use of real images would be inefficient - or impossible. Establishing the realism of such phantoms is critical. For this study, patches of simulated breast tissue with different composition - fatty, scattered, heterogenous and dense tissue - were generated using a method based on Perlin noise. The c

Minority shareholdings have been on the regulatory agenda of competition authorities for some time. Recent empirical studies, however, draw attention to a new, thought-provoking theory of harm: common ownership by institutional investors holding small, parallel equity positions in several competing firms within concentrated industries. While critical voices abound, EU and U.S. antitrust agencies c

Due to its low emission and high energy density, iron powder has been proposed as a promising recyclable metal fuel for a future low-carbon society. The comprehensive understanding of combustion behavior of iron particles is crucial for studying fundamental mechanisms, developing suitable combustion technologies, and designing efficient iron powder combustor. In this work, iron particles are combu

The colloidal stability of lipid based cubosomes, aqueous dispersion of inverse bicontinuous cubic phase, can be significantly increased by a stabilizer. The most commonly used stabilizers are non-ionic tri-block copolymers, poloxamers, which adsorb at the lipid-water interface and hence sterically stabilize the dispersion. One of the challenges with these synthetic polymers is the effect on the i