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Background: Newborn screening (NBS) for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency does not discriminate between isolated LCHAD deficiency, isolated long-chain keto acyl-CoA (LCKAT) deficiency and general mitochondrial trifunctional protein (MTP) deficiency. Therefore, screening for LCHAD deficiency inevitably comprises screening for MTP deficiency, which is much less amenable

Premise of research. Phenotypic traits that consistently mediate species’ responses to environmental variation (functional traits) provide a promising approach toward generalizing ecological and evolutionary patterns and thereby gaining insights into the processes generating them. In the plant functional ecology literature, most trait-based studies have focused on traits mediating either resource

Fake news can originate from an ordinary person carelessly posting what turns out to be false information orfrom the intentional actions of fake news factory workers,but broadly speaking it can also originate from scientific fraud. In the latter case, the article can be retracted upon discovery of the fraud. A case study shows, however, that such fake sciencecan be visible in Google even after the

Background: Housing-related control beliefs are associated with aspects of health among older people in general. Research on Parkinson’s disease (PD) focusing on perceptions of the home are rare and instruments capturing perceived aspects of home have seldom been used. Aims: To evaluate psychometric properties of the external Housing-related Control Beliefs Questionnaire (HCQ) among people with PD

Background: Idiopathic ventricular fibrillation (IVF) is a rare cause of sudden cardiac arrest which may pose therapeutic and prognostic challenges. To date, the only effective treatment for survivors of cardiac arrest is the insertion of an implantable cardioverter-defibrillator (ICD). We sought to review the long-term outcome of a Swedish cohort with IVF. Methods and results: Fifty patients with

Some lactic acid bacteria, especially Lactobacillus spp., possess adhesive properties enabling colonization of the human gastrointestinal tract. Two probiotic Lactobacillus plantarum strains, WCSF1 and 299v, display highly different mannose-specific adhesion, with L. plantarum 299v being superior to L. plantarum WCFS1 based on a yeast agglutination assay. A straightforward correlation between the

Pathogenic germline TP53 variants predispose to a wide range of early onset cancers, often recognized as the Li-Fraumeni syndrome (LFS). They are also identified in 1% of families with hereditary breast cancer (HrBC) that do not fulfill the criteria for LFS. In this study, we present a total of 24 different TP53 variants identified in 31 Swedish families with LFS or HrBC. Ten of these variants, ni