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We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

The new luminescent carbonyl compounds [Mn(Oxa-H)(CO)3Br] (1) and [Mn(Oxa-NMe2)(CO)3Br] (2) were synthesized and fully characterized. Complexes 1 and 2 showed CO release under blue light (λ453). Spectroscopic techniques and TD-DFT and SOC-TD-DFT calculations indicated that 1 and 2 release the Oxa-H and Oxa-NMe2 coligands in addition to the carbonyl ligands, increasing the luminescence during photo

Background: There is growing evidence that the neuropsychiatric and neurological disorders depression, ataxia and dystonia share common biological pathways. We therefore aimed to increase our understanding of their shared pathophysiology by investigating their shared biological pathways and molecular networks. Methods: We constructed gene sets for depression, ataxia, and dystonia using the Human P

Diffusion tensor distribution (DTD) imaging builds on principles from diffusion, solid-state and low-field NMR spectroscopies, to quantify the contents of heterogeneous voxels as nonparametric distributions, with tensor “size”, “shape” and orientation having direct relations to corresponding microstructural properties of biological tissues. The approach requires the acquisition of multiple images

Background: Recent reports suggest that the negative association between diabetes mellitus and abdominal aortic aneurysm (AAA) may be driven by metformin, the world's most common antidiabetic drug rather than diabetes per se. We sought to investigate the association among AAA growth rate, chemokine profile, and metformin prescription in a contemporary Swedish cohort. Methods: Patients under survei

Idiopathic pulmonary fibrosis is characterized by the accumulation of fibroblasts/myofibroblasts and aberrant remodeling of the lung parenchyma. However, the sources of fibroblasts in IPF lungs are unclear. Fibrocytes are circulating progenitors of fibroblasts implicated in wound healing and fibrosis. In this study we evaluated evidence for the presence of fibrocytes in the lung of patients with i

In a regulatory context, skin sensitization hazard and risk evaluations of manufactured products and their ingredients (e.g. cosmetics) are mandatory in several regions. Great efforts have been made within the field of 21st Century Toxicology to provide non-animal testing approaches to assess the skin allergy potential of materials (e.g. chemicals, mixtures, nanomaterials, particles). Mechanistic

Changes in temperature have occurred throughout Earth's history. However, current warming trends exacerbated by human activities impose severe and rapid loss of biodiversity. Although understanding the mechanisms orchestrating organismal response to climate change is important, remarkably few studies document their role in nature. This is because only few systems enable the combined analysis of ge

Observational learning has shown to be a successful intervention for writing. Up until now, however, studies have only been performed with normal-hearing participants, usually highschool or university students. Additionally, there have been conflicting results in whether subjective text quality correlates with one or more objectively measured text characteristics. In this study, we measured the ef

En berättelse om entreprenaden bakom byggandet av Lunds domkyrka. Den lokala aristokratins erfarenhet av entreprenader, anskaffandet av arbetskraft och Harald Blåtands första etablering i Lund inleder redogörelsen. Den första byggnaden på kyrkoplatsen, troligen ett kloster, får byggnadsmaterialet fråm Helsingborg- och Ystadstrakten. Den stående domkyrkans sten kommer från Hallaröd/Munkarp. En fyll

In the project Melody in Human–Cat Communication (Meowsic) we are using established phonetic methods to collect, annotate, pre-process and analyse domestic cat–human vocal communication. This article describes these methods, and also presents results of meow vocalisations in four different mental states showing variation in fundamental frequency (f0).

Various modal methods are frequently used to investigate the vibration pattern in construction elements of a building in the low frequency range. The experimental determination of time average transmission and reflection coefficient has been developed for the large scale building structures. In this study, we investigate a mock up of a wall/floor junction. The wave approach is combined with the co

BACKGROUND: Fatigue is a distressing and prevalent long-term sequela of treatment for childhood cancer, and there is a need for longitudinal studies to investigate the development of fatigue over time. The objective of this study was to calculate growth-curves for the longitudinal development of fatigue after treatment for childhood cancer, and to investigate the effects of biopsychosocial predict

Within the Action Plan for Humanitarian Adaptation to Climate Change initiated by the German Federal Foreign Office a new and innovative framework to humanitarian action is developed, the forecast-based financing mechanism. This scientifically based funding system shall enable practitioners and donors to react faster to oncoming natural extreme events, while supporting local communities in adaptin

Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited disorders and the increasing number of disease-causing genes reported. Diagnostic laboratories therefore need to decide which NGS methods they are going to invest in and how to implement them. We discuss here the challenges and opportunities of using targeted resequencing (TRS) panels for diagnosing monogene

Aim: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement, including those for internationally applicable Scale for Assessment and Rating of Ataxia (SARA) syllable r

d-Amino acids are increasingly being recognized as important signaling molecules in mammals, including humans. d-Serine and d-aspartate are believed to act as signaling molecules in the central nervous system. Interestingly, several other d-amino acids also occur in human plasma, but very little is currently known regarding their function and origin. Abnormal levels of d-amino acids have been impl