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Compared to monolingual first language acquisition (L1) and adult second language acquisition (aL2), relatively little research has been done on child second language acquisition (cL2). This is an unsatisfactory situation from both a practical and a theoretical point of view. The present study concerns cL2 acquisition of French and poses the question whether cL2 acquisition bears closer resemblanc
The insulin-degrading enzyme is responsible for the intracellular proteolysis of insulin. Its gene IDE is located on chromosome 10, in an area with suggestive linkage to type 2 diabetes and related phenotypes. Due to the impact of genetic variants of this gene in rodents and the function of its protein product, it has been proposed as a candidate gene for type 2 diabetes. Various groups have explo
Background: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin- like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases. Objective: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that com
Popular Abstract in Swedish Mycken möda har under de senaste årtiondena lagts ner på forskning om försurande utsläpp och dess skadliga effekter på skogar, vattendrag och människor. Kritiska belastningsgränser, i folkmun kallat "vad naturen tål", har tagits fram och använts i europeiska förhandlingar om utsläppbegränsningar. För skogsekosystem baseras de kritiska belastningsgränserna för försurandeAcidification caused by emissions of Nitrogen and Sulphur and associated adverse effects on forest ecosystems has been an issue on the political agenda for decades. Temporal aspects of soil acidification and/or recovery can be investigated using the soil chemistry model SAFE, a dynamic version of the steady-state model PROFILE used in critical loads assessment on the national level, e.g. for Swede
Objective: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). Methods: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manife
Popular Abstract in Swedish Många olika proteiner kan produceras med hjälp av rekombinanta DNA tekniker. Ofta sätts vektorn som kodar för det rekombinanta proteinet in i bakterien E. coli, då den är välkänd. Det är viktigt att producera mycket celler för att uppnå hög produktivitet. Detta görs genom att näringsämnet (ofta glukos) tillsätts kontinuerligt till en så kallad semisats reaktor. TillsatsThe recombinant DNA techniques have made it possible to produce many different proteins for a wide range of applications. The vector encoding for the recombinant protein is often inserted in the bacterium E. coli as it is a well studied and a well-known organism. To achieve a high productivity, it is important to reach a high cell density. This is obtained through fed-batch operation where the nut
Infantile malignant osteopetrosis (IMO) is caused by lack of functional osteoclasts leading to skeletal abnormalities, blindness due to compression of the optic nerves, bone marrow (BM) failure and early death. In most patients TCIRG1, a proton pump subunit essential for bone resorption, is mutated. Oc/oc mice represent a model for IMO due to a deletion in Tcirg1 and die around 4 weeks. To determi
Impaired interatrial conduction or interatrial block is well documented but is not described as an individual electrocardiographic (ECG) pattern in most of ECG books, although the term atrial abnormalities to encompass both concepts, left atrial enlargement (LAE) and interatrial block, has been coined. In fact, LAE and interatrial block are often associated, similarly to what happens with ventricu
Understanding the genetic regulation of blood CD34+ cell levels could lead to better methods for stem cell mobilization and transplantation. Recently, in a genome-wide association study (GWAS), we identified 11 genetic associations with blood CD34+ cell levels. One of the most significant maps to an intergenic region between the ENO1 and RERE genes at chromosome 1p36.23. However, the underlying me
The decarbonisation of industry, which is a significant contributor to greenhouse gas emissions, is closely linked to the energy system and its transformation. This study quantifies the impacts of industrial decarbonisation on the European energy system, considering uncertainties in electricity and hydrogen demand and constraints on renewable energy sources (RES) deployment and cross-border infras
This thesis investigates core excited electronic states of molecules in gas phase. In particular, the resonanttransitions of ionised molecules, the site-selectivity surrounding Auger-Meitner decay, and the nuclear dynamicsthat may follow core excitation and ionisation.Background: Fundamental understanding of molecules and ions lay the groundwork for all future applicativescience and production. Fo
Recent announcements by the US Government linking paracetamol use during pregnancy to autism in offspring highlight the risks of misinterpreting observational research to inform policy; this is a clear example of the principle that association does not equal causation. Unmeasured familial confounding is a common bias in epidemiological studies, whereby shared genetic or environmental factors withi
The issue of Critical Raw Materials (CRMs) and potential interruptions to their availability due to shortages, trade restrictions or other factors in their supply are topics that are relatively unknown to the general public. For this reason, education has been promoted as a key enabler of a circular economy. One key intervention point is the movement of electronic repair events. Repair events alre
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in thi
Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now all
Recent evidence has shown that D-amino acids are present in animals and humans in high concentrations and fulfill specific biological functions. In the central nervous system, two D-amino acids, D-serine and D-aspartate, occur in considerable concentrations. D-Serine is synthesized and metabolized endogenously and the same might account for D-aspartate. D-Serine has been studied most extensively a
UNLABELLED: Intraoperative radiographic guidance has traditionally been utilized in orthopedic surgery through 2-D navigation with the C-arm and recently with 3-D navigation with the O-arm. The aim of this study was to describe the outcome of surgical treatment of spinal osteoblastoma and osteoid osteoma with the utilization of the O-arm and conventional C-arm guidance. This is a retrospective coh
