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Background: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. Results: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-1
The complete 1H NMR assignments have been obtained for five mutant proteins of calbindin D9k and the three-dimensional solution structures determined for two of the mutants. The structures have been determined using distance geometry and simulated annealing, with distance constraints from NMR. All mutants have modifications in the first calcium-binding site of calbindin (the N-terminal site design
Recent evidence has revealed the role of mechanical cues in the development of shapes in organisms. This thesis is an effort to test some of the fundamental hypotheses about the relation between mechanics and patterning in plants. To do this, we develop mechanical models designed to include specific features of plant cell walls. These are heterogeneous stiffness and material anisotropy as well as
Governed directly by the US from the Battle of Okinawa in 1945 until its reversion to Japan in 1972, the island of Okinawa hosts the majority of US military bases in Japan despite comprising only a fraction of a percent of the total land area. The central government in Tokyo has refused to countenance revision of the status quo in the face of increasing local opposition, including mass protests an
Aim: This study investigates how often bowel continuity was restored after anastomotic leakage in anterior resection for rectal cancer and assesses the clinical factors associated with permanent stoma. Method: The Swedish Colorectal Cancer Registry was used to identify cases of anastomotic leakage registered in southern Sweden between January 2001 and December 2011. Patient characteristics, surgic
Atopic dermatitis (AD) is a clinically defined, highly pruritic, chronic inflammatory skin disease of children and adults. The diagnosis is made using evaluated clinical criteria. Disease activity is best measured with a composite score assessing both objective signs and subjective symptoms, such as SCORAD. The management of AD must consider the clinical and pathogenic variabilities of the disease
Background: Risks that are potentially associated with long-term therapies should be assessed. Objective: The present analyses were performed to determine the risk of malignancy in patients with multiple sclerosis (MS) receiving subcutaneous (sc) interferon (IFN) beta-1a, using pooled safety data from key clinical trials and data from the Merck Serono Global Drug Safety database. Methods: The stan
Abstract. Activation of sympathetic nerves increases circulating glucose and inhibits insulin release from the islet beta-cells, which might contribute to stress-related diabetes. Accordingly, we have shown previously that blockade of parasympathetic activity aggravates diabetes in alloxan-treated mice, suggesting that unopposed sympathetic activity impairs diabetes. In this study, we tested wheth
The force between two planar charged surfaces in the presence of polyampholytes (PAs) is investigated as a function of the surface separation. The model system contains PA molecules with zero net charge adsorbing onto the charged surfaces from a dilute surrounding solution without salt. We compare the results obtained on three levels of approximation: (i) polyampholytes moving in the mean field du
The traditional view of asthma has changed considerably during the last decades. A paradigm shift in our understanding of asthma has turned our focus from the importance of muscle spasm to inflammation. Today asthma is believed to be a central airway inflammatory disorder, and the importance of activated eosinophils found in central airway biopsies and in induced sputum is believed to be a hallmar
Parathyroid hormone (PTH) is a principal regulator of calcium homeostasis. Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence. We found that haplotypes of the PTH gene were associated with fracture risk independent of BMD. In the present study, we evaluated
The crypt in Dalby as a batisterium – a digital reconstruction The article presents an example of the on-going research at Dalby in Scania, Sweden, focusing on the baptismal font and its original medieval context. The site and the current research are presented. Dalby was a medieval cathedral, Augustinian monastery and maybe also a royal manor. The crypt and font from the 12th C are presented. Th
Recently, hippocampal neuropeptide Y (NPY) gene therapy has been shown to effectively suppress both acute and chronic seizures in animal model of epilepsy, thus representing a promising novel antiepileptic treatment strategy, particularly for patients with intractable mesial temporal lobe epilepsy (TLE). However, our previous studies show that recombinant adeno-associated viral (rAAV)-NPY treatmen
Interest in the distinctive features of early Christian manuscripts (e.g. codex format, staurogram, nomina sacra, handwriting, and lectional signs) has increased significantly over the last decade. They are no longer merely identified and compared, but also put into a sociocultural context of early Christian scribal habits and reading culture. Similarly, more attention is constantly being directed
BACKGROUND: It is not known why survival differs between men and women in oxygen-dependent chronic obstructive pulmonary disease (COPD). The present study evaluates differences in comorbidity between men and women, and tests the hypothesis that comorbidity contributes to sex-related differences in mortality in oxygen-dependent COPD. METHODS: National prospective study of patients aged 50 years or
A characteristic feature of non-muscle-invasive bladder cancer (NMIBC) is the high risk of recurrent disease after primary treatment. Although only a minority of cases eventually progress to a life-threatening muscle-invasive tumour, it is necessary to conduct long-term follow-up with repeated cystoscopies. In addition to the negative mental and physical impact that this has on the patient, the ex
Aims: In Sweden approximately 3% of annual births are conceived using assisted reproductive technologies ( ART). In light of increasing use of ART in Sweden we estimate the lifetime future tax revenues of a child conceived by in-vitro fertilization ( IVF) to establish whether public subsidy of IVF represents sound fiscal policy. Methods: A modified generational accounting model was developed to ca
A method is described for imaging in 3-D the interiors of meteoritic chromite grains and their inclusions using synchrotron radiation X-ray tomographic microscopy. In ordinary chondrites, chromite is the only common mineral that survives long-term weathering on Earth. Information about the silicate matrix of the original meteorite, however, can be derived from mineral inclusions preserved in the p
The formation of planets depends on the underlying protoplanetary disc structure, which in turn influences both the accretion and migration rates of embedded planets. The disc itself evolves on time scales of several Myr, during which both temperature and density profiles change as matter accretes onto the central star. Here we used a detailed model of an evolving disc to determine the growth of p
