Huntingtons sjukdom (HS) är en ärftlig fortskridande neurodegenerativ sjukdomsom orsakas av en förlängd CAG sekvens i huntingtin (HTT) genen, vilket leder till motoriska och kognitiva symptom samt personlighetsförändringar. Eftersom den muterade genen och proteinet den kodar för finns uttryckt i kroppens alla celler resulterar det i att även organ utanför hjärnan påverkas. En förhöjd ämnesomsättniHuntington´s disease (HD) is a fatal inherited neurodegenerative disorder caused by a CAG triplet repeat expansion in the huntingtin (HTT) gene and characterized by cognitive and motoric dysfunctions as well as psychiatric problems. Accumulating evidence, however, suggests altered energy metabolism and a hyper-catabolic state as key features of HD pathology. In clinical HD, body weight has been sh

Studien demonstrerar att protrombintid(PT) och aktivitet av K-vitaminberoende koagulationsfaktorer hos kritiskt sjuka patienter med spontanförlängda PT-värden har förstärkts 24 timmar efter Konakion.

BACKGROUND: Drug-related problems due to medication errors are common and have the potential to cause harm. This study, which was conducted in Swedish primary health care, aimed to assess how well the medication lists in the medical records tally with the medications used by patients and to explore what type of medication errors are present. METHODS: We reviewed the electronic medical records (EMR

In contrast with human hemoglobin (Hb) in red blood cells, plant Hbs do not transport oxygen, instead research points towards nitrogen metabolism. Using comprehensive and integrated biophysical methods we characterized three sugar beet Hbs: BvHb1.1, BvHb1.2 and BvHb2. Their affinities for oxygen, CO, and hexacoordination were determined. Their role in nitrogen metabolism was studied by assessing t

Background: After an esophageal resection, continuity is commonly restored by a gastric tube reconstruction and an intrathoracic anastomosis to the remaining proximal esophagus. Ischemia of the anastomotic region is considered to play a pivotal role in anastomotic leakage. Microdialysis (μD) is an excellent method to measure local biochemical substances and parameters in a specific organ or compar

Body weight has been shown to be a predictor of clinical progression in Huntington's disease (HD). Alongside widespread neuronal pathology, both HD patients and the R6/2 mouse model of HD exhibit weight loss and increased energy expenditure, providing a rationale for targeting whole-body energy metabolism in HD. Leptin-deficient mice display low energy expenditure and increased body weight. We the

Low-molecular-weight heparin (LMWH) is widely used to treat recurrent pregnancy loss (RPL) because of its anti-coagulant effects. Although in vitro studies have suggested additional immunological effects, these are debated. We therefore investigated whether LMWH could modulate immune responses in vivo during pregnancy of women with unexplained RPL. A Swedish open multi-centre randomised controlled

An essential aspect in the maintenance of existing bridges is the ability to adequately and accurately assess and evaluate the condition of the structure. Condition assessments, which can be carried out in any number of ways, provide valuable information concerning the actual state of a bridge, including the severity of potential damages, and form the basis for further maintenance decisions. Any d

The superconducting proximity effect has recently attracted a renewed interest as the basis of topologically nontrivial states in materials with a large spin–orbit interaction, with protected boundary states useful for quantum information technologies. However, spectroscopy of these states is challenging because of the limited control of conventional tunnel barriers. Here we report electronic spec

Thermal actions are considered in the design of bridges, as temperature variations can lead to restraint stresses and subsequent cracking. However, load descriptions are in some cases oversimplified or incompatible with modern applications, and background studies are limited. This paper therefore aims to develop a more detailed load description for the load case describing temperature differences

Members of the New Kinase Family 3 (NKF3), PEAK1/SgK269 and Pragmin/SgK223 pseudokinases, have emerged as important regulators of cell motility and cancer progression. Here, we demonstrate that C19orf35 (PEAK3), a newly identified member of the NKF3 family, is a kinase-like protein evolutionarily conserved across mammals and birds and a regulator of cell motility. In contrast to its family members

One of the most frequently mutated proteins in human B-lineage leukemia is the transcription factor PAX5. These mutations often result in partial rather than complete loss of function of the transcription factor. While the functional dose of PAX5 has a clear connection to human malignancy, there is limited evidence for that heterozygote loss of PAX5 have a dramatic effect on the development and fu

Undifferentiated pleomorphic sarcoma (UPS) is a highly aggressive soft tissue tumor. A subset of UPS is characterized by a CITED2–PRDM10 or a MED12–PRDM10 gene fusion. Preliminary data suggest that these so-called PRDM10-rearranged tumors (PRT) are clinically more indolent than classical high-grade UPS, and hence important to recognize. Here, we assessed the spectrum of accompanying mutations and

To achieve a reduced chemical model for comprehensive prediction of ammonia/hydrogen/methane mixture combustion, a detailed chemical mechanism with 128 species and 957 reactions was first assembled using models from literature. Directed relation graph with error propagation (DRGEP) with sensitivity analysis reduction method was then used to obtain compact reaction models. The studied reduction con

Selenoprotein-P (SELENOP) is the main carrier of selenium to target organs and reduces tissue oxidative stress both directly and by delivering selenium to protective selenoproteins. We tested if the plasma concentration of SELENOP predicts cardiovascular morbidity and mortality in the primary preventive setting. SELENOP was measured from the baseline exam in 2002–2006 of the Malmö Preventive Proje