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Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy). Diagnosis is based on the combination of clinical presen
Recent genetic studies have identified alleles associated with opposite effects on adiposity and risk of type 2 diabetes. We aimed to identify more of these variants and test the hypothesis that such favorable adiposity alleles are associated with higher subcutaneous fat and lower ectopic fat. We combined MRI data with genome-wide association studies of body fat percentage (%) and metabolic traits
The Integrated Carbon Observation System Research Infrastructure aims to provide long-Term, continuous observations of sources and sinks of greenhouse gases such as carbon dioxide, methane, nitrous oxide, and water vapour. At ICOS ecosystem stations, the principal technique for measurements of ecosystem-Atmosphere exchange of GHGs is the eddy-covariance technique. The establishment and setup of an
BACKGROUND: The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects.METHODS AND RESULTS: Between 2007 and 2011, 21 clinical sites randomized 608 subj
This European Randomized study of Screening for Prostate Cancer trial follow-up reports that repeated screening reduces the risk of dying from prostate cancer for up to 16 yr.
Background: Ovarian tumours are usually surgically removed because of the presumed risk of complications. Few large prospective studies on long-term follow-up of adnexal masses exist. We aimed to estimate the cumulative incidence of cyst complications and malignancy during the first 2 years of follow-up after adnexal masses have been classified as benign by use of ultrasonography. Methods: In the
Introduction: The goal of European Ultrahigh-Field Imaging Network in Neurodegenerative Diseases (EUFIND) is to identify opportunities and challenges of 7 Tesla (7T) MRI for clinical and research applications in neurodegeneration. EUFIND comprises 22 European and one US site, including over 50 MRI and dementia experts as well as neuroscientists. Methods: EUFIND combined consensus workshops and dat
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners wi
The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patients and families requiring a solid organ or haematopoietic stem cell transplantation. The European Reference Network (ERN) TransplantChild is one of the 24 ERNs established in a European legal
The neutron-rich carbon isotope 15C was postulated to be a halo nucleus (Sn = 1215 keV, S2n = 9395 keV) according to different high-energy experiments. If so, it would be the only halo nucleus exhibiting a "pure" s-wave structure of the ground state. At low collision energies, the effect of this halo structure should manifest as a strong absorption pattern in the angular distribution of the elasti
Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide
Aims Among patients with acute coronary syndromes (ACS), those with diabetes mellitus (DM) are at particularly high risk of recurrent cardiovascular events and premature death. We aimed to provide a descriptive overview of unadjusted analyses of patient characteristics, ACS management, and outcomes up to 1 year after hospital admission for an ACS/index-ACS event, in patients with DM in contemporar
The overlap between the spectroscopic Galactic Archaeology with HERMES (GALAH) survey and Gaia provides a high-dimensional chemodynamical space of unprecedented size. We present a first analysis of a subset of this overlap, of 7066 dwarf, turn-off, and sub-giant stars. These stars have spectra from the GALAH survey and high parallax precisi
GALAH is a large-scale magnitude-limited southern stellar spectroscopic survey. Its second data release (GALAH DR2) provides values of stellar parameters and abundances of 23 elements for 342 682 stars (Buder et al.). Here we add a description of the public release of radial velocities with a typical accuracy of 0.1 km s -1
One of the most rapidly evolving genes in humans, PRDM9, is a key determinant of the distribution of meiotic recombination events. Mutations in this meiotic-specific gene have previously been associated with male infertility in humans and recent studies suggest that PRDM9 may be involved in pathological genomic rearrangements. In studying genomes from families with children affected by B-cell prec
LUM nr 3 - 2005 I Djurnära L U N D S U N I V E R S I T E T M E D D E L A R - - - - - - - - - - - - - - - - N U M M E R 3 M A R S 2 0 0 5 Å R G Å N G 3 8 Makten flyttas upp inom HT Svensk beskattning en kalldusch Djurnära II Lunds universitets tidskrift LUM utkom första gången 1968. Den når i dag samtliga anställda och nästan lika många utanför universitetet. LUM har en upplaga på 12.800 ex och utk
https://www.lu.se/sites/www.lu.se/files/lunds-universitets-magasin-3-2005.pdf - 2026-07-22
