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Objective: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D-3 and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, encoding UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-tran
The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an initial case-control set of Spanish Caucasian ancestry and five independent cohorts
A significant proportion of familial breast cancers cannot be explained by mutations in the BRCA1 or BRCA2 genes. We applied a strategy to identify predisposition loci for breast cancer by using mathematical models to identify early somatic genetic deletions in tumor tissues followed by targeted linkage analysis. Comparative genomic hybridization was used to study 61 breast tumors from 37 breast c
The 5-year relative survival from breast cancer in Denmark is 10 percentage points lower than in Sweden. This difference has been demonstrated previously as being caused partly by more involved lymph nodes and larger tumours in Denmark. Sweden has had nationwide mammography-screening coverage since 1991, whereas this is still in its infancy in Denmark. In the search for an explanation for the rema
BACKGROUND: Epicardial mapping is a powerful tool that has enabled us to gain insight into the electrical phenomena perpetuating atrial fibrillation and has guided the design of surgical and catheter-based therapeutic strategies. However, epicardial data are acquired during abnormal physiological conditions; the patients are anaesthetized, their chests opened, dislocating the heart and exposing it
The platelet-derived growth factor (PDGF) ß receptor mediates mitogenic and chemotactic signals. Like other tyrosine kinase receptors, the PDGF ß receptor is negatively regulated by protein tyrosine phosphatases (PTPs). To explore whether T-cell PTP (TC-PTP) negatively regulates the PDGF ß receptor, we compared PDGF ß receptor tyrosine phosphorylation in wild-type and TC-PTP knockout (ko) mouse em
This study examines the effects of heparin and a low molecular weight heparin (LMWH) fragment on plasma lipolytic activity and substrate oxidation. Indirect calorimetry was performed continuously in healthy male subjects receiving a constant infusion of fat emulsion (0.2 g min-1) and glucose (0.8 g min-1) during a period of 4 h. After 2 h an infusion of heparin (n = 6) or LMWH (n = 6) (100 antifac
The invasion of alien species and genotypes is an increasing concern in contemporary ecology. A central question is, what life-history traits enable invasion amidst populations of wild species and conventional cultivars? In order to invade, the initially rare species must perform better than their resident competitors. We conducted a mathematical analysis and simulation of a two-species extension
Purpose. To explore musculoskeletal findings in patients with cervicogenic dizziness and how these findings relate to pain and dizziness. To study treatment effects and long-term symptom progress. Method. Twenty-two patients ( 20 women, 2 men; mean age 37 years) with suspected cervicogenic dizziness underwent a structured physical examination before and after physiotherapy guided by the musculoske
Popular Abstract in Swedish Bakgrund En till fem procent av de patienter som genomgår öppen hjärtkirurgi får en efterföljande infektion i operationssåret och bröstbenet. Infektionen kan leda till allvarliga komplikationer såsom blodförgiftning, organsvikt och i värsta fall till att patienten avlider. De traditionella metoder som används för att behandla den här typen av infektion har visat sig haNegative pressure wound therapy (NPWT) has been widely adopted for the treatment of deep sternal wound infections due to its excellent clinical outcome. However, the mechanisms of action and effects on hemodynamics have not been thoroughly elucidated. The aims of the work presented in this thesis were, therefore, to examine the effects of NPWT on sternotomy wounds and on the intrathoracic organs.
We assessed age-related differences in adults in familiarization to treadmill walking within virtual environments (VE), and examined whether treadmill walking after familiarization resembles overground walking. Seventeen younger and 17 older adults walked at preferred speed on an overground walkway and afterwards walked at the same speed for 20 min on a treadmill coupled to a VE. A motion capture
OBJECTIVES: To investigate the distribution of the transient receptor potential (TRP) A1 ion channel in the rat urinary bladder, and to study the effects of hydrogen sulfide (H(2)S) and known TRPA1 activators on micturition in conscious rats and on heterologously expressed ion channels. METHODS: The expression of TRPA1 in urinary bladder was studied with fluorescence immunohistochemistry and real-
Background: Irritable bowel syndrome (IBS) and gastrointestinal (GI) dysmotility disorders have a similar clinical picture, although dysmotility disorders require the attention of a specialist. Patients with primary Sjogren's syndrome (pSS) have also been described to suffer from IBS-like symptoms. No objective marker is available to distinguish between the patients. A visual analogue scale has be
Popular Abstract in Swedish Den här avhandlingen handlar om ett protein, en receptor, kallad GPR30. GPR30 tillhör proteinfamiljen G protein-kopplade receptorer vilka är nödvändiga för att celler ska kunna kommunicera med varandra och med sin omgivning. Förenklat sätt kan de ses sitta på ytan av en cell där de väntar på att någonting ska binda till dem, vilket aktiverar receptorerna och får dem attThe large protein family called G Protein-coupled receptors (GPCRs) has co-evolved with life throughout evolution; from single cell organisms all the way to complex beings such as us humans. The fact that GPCRs are involved in essentially every physiological event, and that ~50% of drugs on the current market are either directly or indirectly targeted towards the function of GPCRs, we can be certa
Oxidative stress has been implicated as an important factor in the progression of many diseases. An imbalance in the redox-system may cause oxidation of cells and molecules, which might subsequently lead to tissue damage. The research presented in this thesis has focused on elucidating a possible involvement of the human protein alpha-1-microglobulin in the defence against pathological oxidation.
The potential of Fe-V-oxide catalysts for use in methanol oxidation is explored. Our results show that although FeVO4 is active and selective for formaldehyde formation, it is not completely stable towards volatilization under reaction conditions. Attempts to stabilize Fe-V-oxide were made using titania, alumina and silica supports. However, we observe that although some stabilization is achieved
The sex-dependent effect of environmental conditions on nestlings has been extensively studied in size dimorphic birds. Whether males or females are more sensitive to poor conditions is not yet clear; however, the degree of sexual size-dimorphism, brood size and their interactions seem to influence the pattern. Much less is known about sex-dependent environmental sensitivity in size-monomorphic sp
Physical properties of aqueous solutions of hydrophobically modified crosslinked polyacrylic acids change quite extensively as the polymer is charged up. A study is carried out concerning the similarities between two polymer ionization processes, that is, by pH increment and anionic surfactant addition. The two processes charge the polymer by distinctly different mechanisms. At sufficiently high p
A more detailed mechanistic understanding of how low molecular weight (MW) carbon (C) substrates are mineralized within the rhizosphere by soil microbial communities is crucial to accurately model terrestrial C fluxes. Currently, most experiments regarding soil C dynamics are conducted ex-situ (laboratory) and can fail to account for key variables (e.g. temperature and soil water content) which va
Background and purpose: Rat stomach ECL cells secrete histamine and pancreastatin in response to gastrin and pituitary adenylate cyclase-activating peptide-27 ( PACAP). This study applies microdialysis to explore how ECL cells in situ respond to PACAP and gastrin. Experimental approach: Both peptides were administered by microinfusion into the gastric submucosa. The microdialysate was analysed for
