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Inherited resistance to activated protein C (APC) was recently discovered to be a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. It is caused by a single point mutation in the gene for factor V, which predicts substitution or arginine (R) at position 506 with a glutamine (Q). Accordingly, the activated form of mutated factor V (FVa
Human genetic variation in PPARGC1B has been associated with adiposity, but the genetic variants that affect PPARGC1B expression have not been experimentally determined. Here, guided by previous observational data, we used CRISPR/Cas9 to scarlessly edit the alleles of the candidate causal genetic variant rs10071329 in a human brown adipocyte cell line (hBAs). Switching the rs10071329 genotype from
When facing decisions involving trade-offs between smaller, sooner and larger, delayed rewards, people tend to discount the value of future rewards. There are substantial individual differences in this tendency toward temporal discounting, however. One neurocognitive system that may underlie these individual differences is episodic memory, given the overlap in the neural circuitry involved in imag
Neurofibrillary tangle (NFT) pathology is linked to neurodegeneration in the medial temporal lobe (MTL). Using a tailored pipeline, we correlated atrophy rate, as measured from retrospective longitudinal MRI, with NFT burden, measured from 18F-AV-1451 PET, within MTL regions of earliest NFT pathology. In amyloid-β positive but not amyloid-β negative individuals, we found significant correlation be
We aim to better characterize mild cognitive impairment (MCI) patients with suspected non-Alzheimer's disease (AD) pathology (SNAP) based on their longitudinal outcome, cognition, biofluid, and neuroimaging profile. MCI participants (n = 361) from ADNI-GO/2 were designated "amyloid positive" with abnormal amyloid-beta 42 levels (AMY+) and "neurodegeneration positive" (NEU+) with abnormal hippocamp
ObjectiveTo investigate changes in analgesic use before and after participation in a digital first-line treatment program (exercise and patient education) in persons with knee or hip OA and to explore associations between these changes in medication use and participant-reported pain and function.DesignRetrospective cohort study with pre-post measures.SettingCommunity setting, Sweden.ParticipantsIn
OBJECTIVE: To explore if oral insulin could delay onset of stage 3 type 1 diabetes (T1D) among patients with stage 1/2 who carry HLA DR4-DQ8 and/or have elevated levels of IA-2 autoantibodies (IA-2As).RESEARCH AND METHODS: Next-generation targeted sequencing technology was used to genotype eight HLA class II genes (DQA1, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1, and DPB1) in 546 participants in the Tria
Non-technical summary:Agriculture has been dominated by annual plants, such as all cereals and oilseeds, since the very beginning of civilization over 10,000 years ago. Annual plants are planted and uprooted every year which results in severe disturbance of the soil and disrupts ecosystem services. Science has shown that it is possible to domesticate completely new perennial grain crops, i.e. plan
UNLABELLED: Colon cancer screening occurs at younger ages than osteoporosis screening. Bone density measurements using virtual colonoscopy performed for colon cancer screening can provide an early warning sign of patients at potential risk for osteoporosis-related fractures. Earlier identification may improve treatment and potentially fracture prevention.INTRODUCTION: Opportunistic osteoporosis sc
Paternal or maternal deletions in the 15q11.2-q13 region are known to result in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Maternal duplications in 15q11.2-q13 have been found in patients with autism. A population of adults with moderate to profound mental retardation was studied to examine the usefulness of PCR based molecular methods in screening for proximal chromosome
Protein ADP-ribosylation is a post-translational modification involved in DNA repair, protein degradation, transcription regulation, and epigenetic events. Intracellular ADP-ribosylation is catalyzed predominantly by ADP-ribosyltransferases with diphtheria toxin homology (ARTDs). The most prominent member of the ARTD family, poly(ADP-ribose) polymerase-1 (ARTD1/PARP1) has been a target for cancer
We evaluate pseudo-real-time out-of-sample nowcasts for Swedish GDP employing factor models and mixed-data sampling regressions with single predictor variables. These two model classes can handle the data irregularities of a ragged-edge sample and differing sampling frequencies. The results show that pooling of the nowcasts outperforms a simple benchmark, even though only very few of the underlyinWe evaluate pseudo-real-time out-of-sample nowcasts for Swedish GDP employing factor models and mixed-data sampling regressions with single predictor variables. These two model classes can handle the data irregularities of a ragged-edge sample and differing sampling frequencies. The results show that pooling of the nowcasts outperforms a simple benchmark, even though only very few of the underlyin
A 1-m normal-incidence monochromator has been designed and installed on a bending-magnet beam line at the MAX storage ring in Lund. The optical properties of the beam line have been investigated via ray-tracing studies and with flux measurements of the beam line-monochromator combination. A resolution of 0.9 Å at 919.8 Å was measured in first-order diffraction with an argon hollow-cathode lamp forA 1-m normal-incidence monochromator has been designed and installed on a bending-magnet beam line at the MAX storage ring in Lund. The optical properties of the beam line have been investigated via ray-tracing studies and with flux measurements of the beam line-monochromator combination. A resolution of 0.9 Å at 919.8 Å was measured in first-order diffraction with an argon hollow-cathode lamp for
OBJECTIVE: The Acromegaly Consensus Group reconvened in November 2007 to update guidelines for acromegaly management.PARTICIPANTS: The meeting participants comprised 68 pituitary specialists, including neurosurgeons and endocrinologists with extensive experience treating patients with acromegaly. EVIDENCE/CONSENSUS PROCESS: Goals of treatment and the appropriate imaging and biochemical and clinica
We recently reported that female patients with hypopituitarism receiving controlled thyroid and steroid hormone substitution, but without GH replacement, had a more than 2-fold increase in cardiovascular mortality compared to the general population. In the present study we investigated the incidence of cardiovascular disease as well as the prevalence of cardiovascular risk factors in 33 females wi
Recently, epidemiological evidence has suggested that hypopituitarism with untreated growth hormone deficiency (GHD) is associated with a high incidence of cardiovascular mortality and that women are particularly at risk. In the present study, the incidence of cardiovascular disease and prevalence of cardiovascular risk factors in 33 such women was assessed and compared with matched controls. A si
OBJECTIVE: Many GH deficient (GHD) patients have impaired glucose tolerance and GH substitution in these patients has caused deleterious effects on glucose tolerance with hyperinsulinaemia. This further impairment of glucose tolerance might be due to an unphysiologically high dose of GH. Whether such a deterioration can be avoided by an optimal GH replacement dose is not known. In most previous st
The newly emerged pathogen, Candida auris, presents a serious threat to public health worldwide. This multidrug-resistant yeast often colonizes and persists on the skin of patients, can easily spread from person to person, and can cause life-threatening systemic infections. New antifungal therapies are therefore urgently needed to limit and control both superficial and systemic C. auris infect
Middle Eastern immigrants are at high-risk for insulin resistance. Fatty acid composition (FAC) plays an important role in the development of insulin resistance but has not been investigated in people of Middle Eastern ancestry. Here, the aim was to assess the FAC in visceral and subcutaneous adipose tissue (VAT and SAT) in healthy Iraqi- and Swedish-born men using a magnetic resonance imaging (MR
