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Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inb
Objectives: To compare time intervals to diagnosis and treatment, tumor characteristics, and management in patients with primary urinary bladder cancer, diagnosed before and after the implementation of a standardized care pathway (SCP) in Sweden. Materials and methods: Data from the Swedish National Register of Urinary Bladder Cancer was studied before (2011–2015) and after (2016–2019) SCP. Data a
Air pollution is one of the leading causes of morbidity and mortality worldwide. Low-emission zones (LEZ) have been increasingly implemented in cities throughout Europe as a measure to reduce the adverse health effects and premature deaths associated with traffic-related air pollution. In the present study, a health impact analysis was conducted to estimate the effect of a hypothetical LEZ on mort
Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage
The effect of the addition of n-hexanol as co-surfactant on the structure of cetyltrimethylammonium bromide (CTAB) micelles has been studied using small-angle X-ray and neutron scattering (SAXS, SANS). Contrast variation neutron scattering experiments were performed to determine the structure of both pure CTAB and n-hexanol modified CTAB micelles. The incorporation of n-hexanol leads to an elongat
Lithium abundance in most of the warm metal-poor main sequence stars shows a constarnt plateau (A(Li) ~ 2.2 dex) and then the upper envelope of the lithium vs. metallicity distribution increases as we approach solar metallicity. Meteorites, which carry information about the chemical composition of the interstellar medium (ISM) at the solar system formation time, show a lithium abundance A(Li) ~ 3.
3D-macroporous chitosan-based scaffolds (cryogels) were produced via growth of metal-polymer coordinated complexes and electrostatic interactions between oppositely charged groups of chitosan and metal ions under subzero temperatures. A mechanism of reduction of noble metal complexes inside the cryogel walls by glutaraldehyde is proposed, which produces discrete and dispersed noble metal nanoparti
This Letter describes a model-agnostic search for pairs of jets (dijets) produced by resonant and non-resonant phenomena beyond the Standard Model in 3.6 fb−1 of proton–proton collisions with a centre-of-mass energy of s=13 TeV recorded by the ATLAS detector at the Large Hadron Collider. The distribution of the invariant mass of the two leading jets is examined for local excesses above a data-deri
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is commonly seen in malaria endemic areas as it is known to confer a selective advantage against malaria. Recently, we reported a high proportion of asymptomatic reservoir of Plasmodium vivax in Botswana, that calls for intervention with primaquine to achieve radical cure of vivax malaria. Considering that individuals with this enzyme deficiency
X-ray examinations of the pelvis and the urinary tract are frequent examinations of children, in which a large part of the trunk is irradiated. The irradiated volume contains many of the most radiation sensitive organs and tissues. The absorbed dose to children during the examination was estimated from measurements with a dose-area product meter and thermoluminescent dosemeters (TLDs). Entrance su
The primary aim of this study is to assess the significance of top management commitment in the context of Lean 4.0 implementation within the pharmaceutical manufacturing industry in Ghana. The study seeks to understand and evaluate the overall effectiveness and achievements associated with adopting Lean 4.0. Employing a positivist mindset, the research utilizes an explanatory quantitative researc
Solar energy is an important source of clean energy to combat climate change issues that motivate the establishment of solar farms. Establishing solar farms has been considered a proper alternative for energy production in countries like Mozambique, which need reliable and clean sources of energy for sustainable development. However, selecting proper sites for creating solar farms is a function of
Aim: There is ongoing controversy regarding the extent to which Hartmann's procedure (HP) should be used in rectal cancer treatment. This study was designed to investigate 30-day postoperative morbidity and mortality following HP, anterior resection (AR) and abdominoperineal resection (APR) for rectal cancer using a national registry. Methods: All patients operated for rectal cancer, tumour height
We developed an analytical method and constrained procedural boundary conditions that enable accurate and precise Zn isotope ratio measurements in urban aerosols. We also demonstrate the potential of this new isotope system for air pollutant source tracing. The procedural blank is around 5 ng and significantly lower than published methods due to a tailored ion chromatographic separation. Accurate
Aims: The study aims were to determine autoantibodies associated with type 1 diabetes (T1D), celiac disease (CD) and autoimmune thyroid disease (AITD) in individuals living with type 2 diabetes (T2D) compared to T1D and matched controls. Methods: Individuals with T1D and T2D were randomly identified in health-care registers. Blood was collected through home-capillary sampling and autoantibodies as
The currently most promising approach for reducing CO2 emissions of the global steel production is reducing iron ore in shaft furnaces with (green) hydrogen instead of blast furnaces. Unlike to the liquid iron produced in blast furnaces, the direct reduced iron produced in this route (green iron) exists in a solid state and can be transported at reasonable costs over long distances. This allows fo
Serum free light chain (FLC) concentration is greatly affected by kidney function. Using a large prospective population-based cohort, we aimed to establish a reference interval for FLCs in persons with chronic kidney disease (CKD). A total of 75422 participants of the iStopMM study were screened with serum FLC, serum protein electrophoresis and immunofixation. Estimated glomerular filtration rate
The late Silurian Lau/Kozlowskii bioevent marks a time interval with substantial loss in marine biodiversity linked to the largest positive carbon isotope excursion (Mid-Ludfordian CIE; MLCIE) recorded in the Phanerozoic (δ13Ccarb peaks at +8–10‰). The positive δ13C excursion and the extinctions have been linked to increased marine productivity (ocean eutrophication), leading to increased organic
