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Abstract Background Children and adolescents with Pompe disease (PD) face chronic and progressive myopathy requiring time-intensive enzyme replacement therapy (ERT). Little is known about their perspectives on the disease and its treatment. This study explored their perceptions of disease symptoms and functioning status, and more subjective feelings about the impacts on their lives as part of developing a disease-specific questionnaire. Methods Eleven pediatric patients aged 8–18 years and 26 caregivers from six children’s hospitals in Germany, Austria, and Switzerland underwent semi-structured interviews. Data were recorded, transcribed using MAXQDA software, and analyzed using qualitative content analysis. A system of meaningful categories was developed. Results Sixteen main categories were derived across four major thematic areas: perceptions of symptoms and limitations, experiences to do with the biopsychosocial impact of PD, treatment experiences, and general emotional well-being/burden. Participants demonstrated broad heterogeneity in symptom perceptions such as muscle weakness, breathing difficulties, pain, and fatigue. Emotional appraisals of limitations were not directly proportional to their severity, and even comparatively minor impairments were often experienced as highly frustrating, particularly for social reasons. The main psychosocial topics were social exclusion vs. inclusion and experiences to do with having a disease. The main finding regarding treatment was that switching ERT from hospital to home was widely viewed as a huge relief, reducing the impact on daily life and the burden of infusions. Emotional well-being ranged from not burdened to very happy in most children and adolescents, including the most severely affected. Conclusion This study provided qualitative insights into the perceptions and experiences of pediatric PD patients. Interestingly, biopsychosocial burden was not directly related to disease severity, and tailored psychosocial support could improve health-related quality of life. The present findings ensure the content validity of a novel questionnaire to be tested as a screening tool to identify patients in need of such support.

Abstract Background Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of OI are low bone mass and reduced bone mineral strength, leading to increased bone fragility and deformity that may lead to significant impairment in daily life. The phenotypic manifestations show a broad range of severity, ranging from mild or moderate to severe and lethal. The here presented meta-analysis aimed to analyze existing findings on quality of life (QoL) in children and adults with OI. Methods Nine databases were searched with predefined key words. The selection process was executed by two independent reviewers and was based on predetermined exclusion and inclusion criteria. The quality of each study was assessed using a risk of bias tool. Effect sizes were calculated as standardized mean differences. Between-study heterogeneity was calculated with the I2 statistic. Results Among the studies included two featured children and adolescents (N = 189), and four adults (N = 760). Children with OI had significantly lower QoL on the Pediatric quality of life inventory (PedsQL) with regards to the total score, emotional, school, and social functioning compared to controls and norms. The data was not sufficient to calculate differences regarding OI-subtypes. In the adult sample assessed with Short Form Health Survey Questionnaire, 12 (SF-12) and 36 items (SF-36), all OI types showed significantly lower QoL levels across all physical component subscales compared to norms. The same pattern was found for the mental component subscales namely vitality, social functioning, and emotional role functioning. The mental health subscale was significantly lower for OI type I, but not for type III and IV. All of the included studies exhibited a low risk of bias. Conclusions QoL was significantly lower in children and adults with OI compared to norms and controls. Studies in adults comparing OI subtypes showed that the clinical severity of the phenotype is not related to worse mental health QoL. Future research is needed to examine QoL in children and adolescents in more sophisticated ways and to better understand the association between clinical severity of an OI-phenotype/severity and mental health in adults.

This work presents a new ultra-high vacuum cluster tool to perform systematic studies of the early growth stages of atomic layer deposited (ALD) ultrathin films following a surface science approach. By combining operando (spectroscopic ellipsometry and quadrupole mass spectrometry) and in situ (X-ray photoelectron spectroscopy) characterization techniques, the cluster allows us to follow the evolution of substrate, film, and reaction intermediates as a function of the total number of ALD cycles, as well as perform a constant diagnosis and evaluation of the ALD process, detecting possible malfunctions that could affect the growth, reproducibility, and conclusions derived from data analysis. The homemade ALD reactor allows the use of multiple precursors and oxidants and its operation under pump and flow-type modes. To illustrate our experimental approach, we revisit the well-known thermal ALD growth of Al2O3 using trimethylaluminum and water. We deeply discuss the role of the metallic Ti thin film substrate at room temperature and 200 °C, highlighting the differences between the heterodeposition (10 cycles) growth regimes at both conditions. This surface science approach will benefit our understanding of the ALD process, paving the way toward more efficient and controllable manufacturing processes.

Photovoltaics is one of the key technologies for reducing greenhouse gas emissions and achieving climate neutrality for Europe by 2050, which has led to the promotion of solar parks. These parks can span up to several hundred hectares, and grassland vegetation is usually created between and under the panels. Establishing species-rich grasslands using native seed mixtures can enhance a variety of ecosystem services, including pollination. We present an overall concept for designing native seed mixtures to promote pollinators, especially wild bees, in solar parks. It takes into account the specific site conditions, the small-scale modified conditions caused by the solar panels, and the requirement to avoid panel shading. We highlight the challenges and constraints resulting from the availability of species on the seed market. Furthermore, we provide an easy-to-use index for determining the value of native seed mixtures for wild bee enhancement and apply it as an example to several mixtures specifically designed for solar parks. The increased availability of regional seed would allow a more thorough consideration of pollinator-relevant traits when composing native seed mixtures, thereby enhancing ecosystem services associated with pollinators such as wild bees.

We have demonstrated the high–density formation of super–atom–like Si quantum dots with Ge–core on ultrathin SiO2 with control of high–selective chemical–vapor deposition and applied them to an active layer of light–emitting diodes (LEDs). Through luminescence measurements, we have reported characteristics carrier confinement and recombination properties in the Ge–core, reflecting the type II energy band discontinuity between the Si–clad and Ge–core. Additionally, under forward bias conditions over a threshold bias for LEDs, electroluminescence becomes observable at room temperature in the near–infrared region and is attributed to radiative recombination between quantized states in the Ge–core with a deep potential well for holes caused by electron/hole simultaneous injection from the gate and substrate, respectively. The results will lead to the development of Si–based light–emitting devices that are highly compatible with Si–ultra–large–scale integration processing, which has been believed to have extreme difficulty in realizing silicon photonics.

Heteroepitaxial growth of γ‐Al2O3 on Sc2O3/Y2O3/Si (111) is achieved with oxygen plasma‐assisted molecular beam epitaxy in order to prevent polycrystalline grain boundary formation caused by lattice mismatch. Substrate temperature as well as oxygen flow are adjusted to optimize epitaxial growth conditions around 715–760 °C and 1.9 sccm, respectively. Epitaxial growth is monitored in situ by reflection high‐energy diffraction, while surface morphology is studied by scanning electron microscopy ex‐situ. X‐ray diffraction indicates epitaxial out‐of‐plane 111 orientation with oxygen flow above 0.6 sccm. However, transmission electron microscopy shows stacking fault formation for high oxygen flows. Finally, nanobeam electron diffraction confirms Smrčok model of a spinel‐like γ‐Al2O3 crystal structure. [ABSTRACT FROM AUTHOR]

The integration of dislocation-free Ge nano-islands was realized via selective molecular beam epitaxy on Si nano-tip patterned substrates. The Si-tip wafers feature a rectangular array of nanometer sized Si tips with (001) facet exposed among a SiO2 matrix. These wafers were fabricated by complementary metal-oxide-semiconductor (CMOS) compatible nanotechnology. Calculations based on nucleation theory predict that the selective growth occurs close to thermodynamic equilibrium, where condensation of Ge adatoms on SiO2 is disfavored due to the extremely short re-evaporation time and diffusion length. The growth selectivity is ensured by the desorption-limited growth regime leading to the observed pattern independence, i.e. the absence of loading effect commonly encountered in chemical vapor deposition. The growth condition of high temperature and low deposition rate is responsible for the observed high crystalline quality of the Ge islands which is also associated with negligible Si-Ge intermixing owing to geometric hindrance by the Si nano-tip approach. Single island as well as area-averaged characterization methods demonstrate that Ge islands are dislocation-free and heteroepitaxial strain is fully relaxed. Such well-ordered high quality Ge islands present a step towards the achievement of materials suitable for optical applications.

Dislocation networks are one of the most principle sources deteriorating the performances of devices based on lattice-mismatched heteroepitaxial systems. We demonstrate here a technique enabling fully coherent germanium (Ge) islands selectively grown on nanotip-patterned Si(001) substrates. The silicon (Si)-tip-patterned substrate, fabricated by complementary metal oxide semiconductor compatible nanotechnology, features ∼50-nm-wide Si areas emerging from a SiO2 matrix and arranged in an ordered lattice. Molecular beam epitaxy growths result in Ge nanoislands with high selectivity and having homogeneous shape and size. The ∼850 °C growth temperature required for ensuring selective growth has been shown to lead to the formation of Ge islands of high crystalline quality without extensive Si intermixing (with 91 atom % Ge). Nanotip-patterned wafers result in geometric, kinetic-diffusion-barrier intermixing hindrance, confining the major intermixing to the pedestal region of Ge islands, where kinetic diffusion barriers are, however, high. Theoretical calculations suggest that the thin Si/Ge layer at the interface plays, nevertheless, a significant role in realizing our fully coherent Ge nanoislands free from extended defects especially dislocations. Single-layer graphene/Ge/Si-tip Schottky junctions were fabricated, and thanks to the absence of extended defects in Ge islands, they demonstrate high-performance photodetection characteristics with responsivity of ∼45 mA W(-1) and an Ion/Ioff ratio of ∼10(3).

The growth of hexagonal boron nitride (hBN) on epitaxial Ge(001)/Si substrates via high-vacuum chemical vapor deposition from borazine is investigated for the first time in a systematic manner. The influences of the process pressure and growth temperature in the range of 10−7–10−3 mbar and 900–980 °C, respectively, are evaluated with respect to morphology, growth rate, and crystalline quality of the hBN films. At 900 °C, nanocrystalline hBN films with a lateral crystallite size of ~2–3 nm are obtained and confirmed by high-resolution transmission electron microscopy images. X-ray photoelectron spectroscopy confirms an atomic N:B ratio of 1 ± 0.1. A three-dimensional growth mode is observed by atomic force microscopy. Increasing the process pressure in the reactor mainly affects the growth rate, with only slight effects on crystalline quality and none on the principle growth mode. Growth of hBN at 980 °C increases the average crystallite size and leads to the formation of 3–10 well-oriented, vertically stacked layers of hBN on the Ge surface. Exploratory ab initio density functional theory simulations indicate that hBN edges are saturated by hydrogen, and it is proposed that partial de-saturation by H radicals produced on hot parts of the set-up is responsible for the growth.

No abstract since it is a Reply to a Comment.

The HfO2-based resistive random access memory (RRAM) is one of the most promising candidates for non-volatile memory applications. The detection and examination of the dynamic behavior of oxygen ions/vacancies are crucial to deeply understand the microscopic physical nature of the resistive switching (RS) behavior. By using synchrotron radiation based, non-destructive and bulk-sensitive hard X-ray photoelectron spectroscopy (HAXPES), we demonstrate an operando diagnostic detection of the oxygen ‘breathing’ behavior at the oxide/metal interface, namely, oxygen migration between HfO2 and TiN during different RS periods. The results highlight the significance of oxide/metal interfaces in RRAM, even in filament-type devices.

Background: Patients with a Fontan circulation have altered cholesterol and lipoprotein values. We analysed small organic molecules in extended phopsholipid and acylcarnitine metabolic pathways (‘metabolomes’) in adult Fontan patients with a dominant left ventricle, seeking differences between profiles in baseline and Fontan circulations. Methods: In an observational matched cross-sectional study, we compared phosphatidylcholine (PC), sphingomyelin (SM), and acylcarnitine metabolomes (105 analytes; AbsoluteIDQ ® p180 kit (Biocrates Life Sciences AG, Innsbruck, Austria) in 20 adult Fontan patients having a dominant left ventricle with those in 20 age- and sex-matched healthy controls. Results: Serum levels of total PC ( q -value 0.01), total SM ( q -value 0.0002) were significantly lower, and total acylcarnitines ( q -value 0.02) were significantly higher in patients than in controls. After normalisation of data, serum levels of 12 PC and 1 SM Fontan patients were significantly lower ( q -values

Patients with Marfan syndrome (MFS) have an increased risk of aortic aneurysm formation, dissection and development of a subtle cardiomyopathy. We analyzed amino acid and lipid metabolic pathways in MFS patients, seeking biomarker patterns as potential monitoring tools of cardiovascular risk with deterioration of myocardial function. We assessed myocardial function in 24 adult MFS patients and compared traditional laboratory values and mass spectrometry-based amino acid, phospholipid and acylcarnitine metabolomes in patients with those in healthy controls. Analytes for which values differed between patients and controls were subjected to regression analysis. A high proportion of patients had signs of impaired diastolic function and elevated serum levels of NT-proBNP. Patients had lower serum levels of taurine, histidine and PCaeC42:3 than controls. The evidence of diastolic dysfunction, aortic root dimensions and history of aortic root surgery correlated with NT-proBNP and taurine levels. Alterations in serum levels of metabolism derived analytes link MFS pathophysiology with inflammation, oxidative stress and incipient cardiomyopathy.

This work presents a new ultra-high vacuum cluster tool to perform systematic studies of the early growth stages of atomic layer deposited (ALD) ultrathin films following a surface science approach. By combining operando (spectroscopic ellipsometry and quadrupole mass spectrometry) and in situ (X-ray photoelectron spectroscopy) characterization techniques, the cluster allows us to follow the evolution of substrate, film, and reaction intermediates as a function of the total number of ALD cycles, as well as perform a constant diagnosis and evaluation of the ALD process, detecting possible malfunctions that could affect the growth, reproducibility, and conclusions derived from data analysis. The homemade ALD reactor allows the use of multiple precursors and oxidants and its operation under pump and flow-type modes. To illustrate our experimental approach, we revisit the well-known thermal ALD growth of Al2O3 using trimethylaluminum and water. We deeply discuss the role of the metallic Ti thin film substrate at room temperature and 200 °C, highlighting the differences between the heterodeposition (<10 cycles) and the homodeposition (>10 cycles) growth regimes at both conditions. This surface science approach will benefit our understanding of the ALD process, paving the way toward more efficient and controllable manufacturing processes. [ABSTRACT FROM AUTHOR]

This study investigates the removal of aluminum and iron from rare earth element (REE) containing solutions by solvent extraction with saponified naphthenic acid and by hydrolysis-precipitation. The results emphasize both, the preferential application as well as limitations of every method. We find that emulsification occurring during the solvent extraction of aluminum is caused by its slow extraction rate in comparison to the neutralization reaction and by the proximity of the pH value required for aluminum extraction and the pH value at which hydrolysis of aluminum occurs. However, by choosing a long shaking time of at least 4 h, the emulsion recedes. The formation of emulsion can be avoided by strict control of pH value during the extraction. Moreover, the loading capacity of the organic phase with aluminum is limited due to the strong increase in viscosity of the organic phase with increasing aluminum concentration and due to the gel formation. Regarding the extraction of iron, the amount of extracted ions is limited due to the overlap of the pH range required for the extraction with pH range in which sparingly soluble iron oxides/hydroxides are formed. In summary, aluminum and iron can be simultaneously removed from REE-sulfate solution by solvent extraction with saponified naphthenic acid in one extraction stage only from diluted solutions. However, in comparison to the hydrolysis-precipitation method, a higher purity of the solution is achieved. A complete removal of aluminum and iron from concentrated solutions can be achieved in two stages. First, the content of aluminum and iron should be reduced by hydrolysis-precipitation. After that, a high-purity solution can be obtained by subsequent solvent extraction by saponified naphthenic acid.

A vivid discussion revolves around the role of the human mind in the quantum measurement process. While some authors argue that conscious observation is a necessary element to achieve the transition from quantum to classical states during measurement (Wigner, 1963), some go even further and propose a more active influence of the human mind on the probabilities of quantum measurement outcomes (e.g. Atmanspacher, Römer, & Walach, 2002; Penrose & Hameroff, 2011). This proposition was tested in micro-psychokinesis (micro-Pk) research were intentional observer effects on quantum random number generators (RNGs) were investigated. In the studies presented here we extended this line of research and tested the impact unconscious goals on micro-Pk. Our focus was cigarette addiction as an unconscious drive and hypothesized that regular cigarette smokers would influence the outcome of a quantum RNG that determined whether the participant was going to see a smoking-related or a neutral picture. Study 1 revealed strong evidence for micro-Pk (BF = 66.06) supporting the H1. As expected, no deviation from chance was found with non-smokers. In Study 2, a pre-registered highly powered replication attempt, failed to reproduce this result and showed strong evidence for H0 (BF = 11.07). When the data from both studies are combined a remarkable change in effect across time (resembling a combination of appearance followed by decline) can be seen only in the smoker’s subsample. Appearance-and-decline effects were absent in the non-smokers sample and in a simulation. Based on von Lucadou’s Model of Pragmatic Information we suggest that (micro-)Pk effects follow a systematic pattern comparable to a dampened harmonic oscillation. This concept may shed new light on past and future Pk research.