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Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia–pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L’s normal antiproliferative effect. This causes pancytopenia and generally
Many people are living with the consequences of a stroke for a great partof their lives, but knowledge is lacking on how rehabilitation and social services should bedesigned in a long-term perspective. There is a particular need for knowledge on how tosupport long-term participation in social and leisure activities.
AIM: To investigate secular trends and regional disparities in hospitalizations due to systemic connective tissue diseases (SCTD) in Sweden from 1998 to 2016.METHOD: We identified all hospital admissions with a principal diagnosis of SCTD (ICD-10 codes: M30-M36) from the Swedish National Patient Register. Joinpoint regression was used to assess secular trends in age-standardized hospitalization ra
Objective: The aim was to compare the vitamin D levels in patients with Graves disease (GD) with the general population and to correlate the vitamin D levels with laboratory and clinical parameters in GD. Moreover, we examined the genetic variation in genes involved in the vitamin D metabolism and their association with GD.Methods: The levels of vitamin D were compared in 292 patients with newly d
Strong and independent associations between plasma concentration of cystatin C and risk of cardiovascular disease (CVD) suggests causal involvement of cystatin C.
The genetic background of Growth Hormone (GH) secretion is not well understood. Mutations giving rise to a stop codon have a high likelihood of affecting protein function.
In this study, we have analyzed the spatial and temporal correlation between the North Atlantic Oscillation (NAO) and the climate in Iraq, with a focus on precipitation, temperature, and number of Mediterranean cyclones. It was found that the influence of the NAO varies per climate indicator. For example, the influence is greater on precipitation than on temperature. One conclusion of the study is
Resolving challenges related to the sustainability of natural capital and ecosystem services is an urgent issue. No roadmap on reaching sustainability exists; and the kind of sustainable land use required in a world that acknowledges both multiple environmental boundaries and local human well-being presents a quandary. In this commentary, we argue that a new globally consistent and expandable syst
Accumulated carbon uptake, apparent quantum yield (AQY) and light-saturated net CO2 assimilation (A(sat)) were used to assess the responses of photosynthesis to environmental conditions during spring for three consecutive years. Whole-tree chambers were used to expose 40-year-old field-grown Norway spruce trees in northern Sweden to an elevated atmospheric CO2 concentration, [CO2], of 700 mu mol C
Many studies have found close relationships between accessibility and various socio-economic indicators. Yet, since accessibility tends to have differentiated effects, both socially and spatially, there is a need for a model which allows for a disaggregated analysis of accessibility. The model should be possible to use in areas where road network data is incomplete. In this paper such an accessibi
Pericytes are located on the abluminal side of endothelial cells lining the microvasculature in all organs. They have been identified as multipotent progenitor cells in several tissues of the body including the human brain. New evidence suggests that pericytes contribute to tissue repair, but their role in the injured brain is largely unknown. Here, we investigate the role of pericytes in ischemic
Key points Hematopoietic stem cell aging associate with stable transcriptional alterations that persist through transplantation.Somatic cell reprogramming of aged hematopoietic stem and progenitor cells reverses functional defects associated with hematopoietic aging.
OBJECTIVE: The aim of this study was to analyze how an altered collagen structure affects development of atherosclerotic plaques. METHODS AND RESULTS: Fibromodulin-null mice develop an abnormal collagen fibril structure. In apolipoprotein E (ApoE)-null and ApoE/fibromodulin-null mice, a shear stress-modifying carotid artery cast induced formation of atherosclerotic plaques of different phenotypes;
The destruction of land and forced migration during the Anfal attacks against the Kurds in Iraq in the late 1980s has been reported to have severe consequences for agricultural development. A reconstruction program to aid people in returning to their lands was launched in 1991. To assess the agricultural situation in the Duhok governorate during the pre-Anfal (A), post-Anfal (B), reconstruction (C
The separation of abiotic and biotic factors affecting populations and communities is an important step in understanding how climate change can influence ecological processes, but quantifying their relative contribution to community changes is a challenge. We assessed the effect of temperature and species interactions on the population dynamics of a forest bird community with a hierarchical dynami
The role of blood pressure (BP) changes in dementia is debatable. We aimed to analyse how resting and postural BP changes relate to incident dementia over a long-term follow-up. In the prospective population-based Malmö Preventive Project, 18,240 study participants (mean age: 45 ± 7 years, 63% male) were examined between 1974 and 1992 with resting and standing BP measurement, and re-examined betwe
Low serum apolipoprotein (Apo) A1 concentrations and high serum ApoB concentrations may be better markers of the risk of cardiovascular disease than high-density lipoprotein (HDL) and low-density lipoprotein (LDL). However, the associations between modifiable lifestyle factors and Apo concentrations have not been investigated in detail. Therefore, this study investigated the associations between A
With the present demand on fast and inexpensive aerosol source apportionment methods, the Aethalometer model was evaluated for a full seasonal cycle (June 2014–June 2015) at a rural atmospheric measurement station in southern Sweden by using radiocarbon and levoglucosan measurements. By utilizing differences in absorption of UV and IR, the Aethalometer model apportions carbon mass into wood burnin
Bmi1 was originally identified as a gene that contributes to the development of mouse lymphoma by inhibiting MYC-induced apoptosis through repression of Ink4a and Arf. It codes for the Polycomb group protein BMI-1 and acts primarily as a transcriptional repressor via chromatin modifications. Although it binds to a large number of genomic regions, the direct BMI-1 target genes described so far do n
