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Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thr
Background--Both the adrenergic and renin-angiotensin systems contribute to orthostatic circulatory homeostasis, which is impaired in postural orthostatic tachycardia syndrome (POTS). Activating autoantibodies to the α1-adrenergic and β1/2-adrenergic receptors have previously been found in sera from patients with POTS. We hypothesized that patients with POTS might also harbor activating autoantibo
Using four bacterial immunoglobulin-binding proteins, we have analyzed the binding characteristics of a panel of 34 human single chain Fv antibodies, expressed in E. coli and with known specificity and sequence. Several of the single chain Fv antibodies showed affinity for staphylococcal protein A and peptostreptococcal protein L, but not for the streptococcal proteins G or H. The affinity of the
One of the central issues in ecology is the identification of processes affecting the population structure and dynamics of species with complex life cycles. In such species, variation in both the number of larvae that enter a population and their phenotype are important drivers of survival and growth after metamorphosis. Larval experience can have strong effects on key postmetamorphic traits, but
Introduction: Endometriosis is a benign disease that affects women of reproductive age. Laparoscopic excision of endometriotic implants is considered one of the most effective therapeutic options. The disease and its treatment can have a major impact on psychosexual well-being but this is often overlooked as most studies focus on pain instead of sexuality in a holistic approach. The aim of this st
This study compares the historical evolution of Total Quality Management (TQM) to eight well-known management theories to investigate whether there are affinities between TQM and the selected management theories. The study uses the core values and components of the EFQM Excellence Model as the framework for the analysis which reveals that most of the ingredients in the selected management theories
Aims: It has in recent years been established that epigenetic changes contribute to β-cell dysfunction and type 2 diabetes (T2D). For example, we have showed that the expression of histone deacetylase 7 (HDAC7) is increased in pancreatic islets of individuals with T2D and that increased levels of Hdac7 in β-cells impairs insulin secretion. The HDAC inhibitor MC1568 rescued this secretory impairmen
Police work may include performing repeated tasks under the influence of psychological stress, which can affect perceptual, cognitive and motor performance. However, it is largely unknown how repeatedly performing stressful tasks physically affect police officers in terms of heart rate and pupil diameter properties. Psychological stress is commonly assessed by monitoring the changes in these bioma
Both numerical simulations and experiments were conducted in a heavy-duty DICI engine, with PRF81 as a gasoline surrogate, to investigate how the fuel stratification, auto-ignition and combustion are affected by the start of injection (SOI). The intake air temperature was adjusted to keep the combustion phasing constant when the SOI was swept from −100 to −20 oCA ATDC, covering different regimes o
BackgroundWhile genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate causal genes at these regions and search for novel risk regions, we performed a multi-tissue transcriptome-wide association study (TWAS).ResultsGWAS data on 7319 MM cases and 234,3
The HLA-DQ β-chain gene shows a close association with susceptibility or resistance to autoimmune insulin-dependent diabetes mellitus (IDDM) and it has been suggested that the amino acid in position 57 may be of pathogenetic importance. To study the expression of the IDDM associated HLA-DQ β-chain alleles, we immunized rabbits with 12 to 13 amino acid long peptides representing HLA-DQw7 and -DQw8
An antiserum (R4) from a rabbit immunized with suspensions of C57BL/6J ob/ob mouse islet cells contains antibodies which in a 125I-protein A radioligand assay can be demonstrated to bind to single cell suspensions of normal Naval Medical Research Institute (NMRI) mouse islet cells. The binding of 125I-protein A to islet cells was about four times that of normal rabbit serum (NRS) after incubation
Background and aims: Betony (Betonica officinalis L.) is one of the rarest and mostspectacular plants in the Scandinavian flora. A long-term question has been whether it is spontaneous or introduced, or whether it comprises both spontaneous and introduced populations. This study aimed to answer this question by analyzing sequence data from the nuclear external transcribed spacer (ETS) region and t
A recent slew of ENCyclopedia Of DNA Elements (ENCODE) Consortium publications, specifically the article signed by all Consortium members, put forward the idea that more than 80% of the human genome is functional. This claim flies in the face of current estimates according to which the fraction of the genome that is evolutionarily conserved through purifying selection is less than 10%. Thus, accor
PurposeThe aim of the present study was to identify the most physically demanding work tasks for Swedish ground combat soldiers through the development and application of a questionnaire survey. This is the first in a series of studies aiming to describe the development process and validation of physical selection standards in the Swedish armed forces.MethodsBased on procedural documentation, comb
The potato onion ‘Leksand’, the soapwort ‘Kvinnsgröta’, and the geranium ‘Drottningminne’ are since a few years officially authorized Swedish heritage plants. They are all named after places; a small town in Dalecarlia, a village on the island Öland and a farmstead in the northern region Jämtland. This presentation will discuss how heritage plants are made, in processes which comprise social and p
Epigenetic changes may contribute substantially to risks of diseases of aging. Previous studies reported seven methylation variable positions (MVPs) robustly associated with incident type 2 diabetes mellitus (T2DM). However, their causal roles in T2DM are unclear. In an incident T2DM case-cohort study nested within the populationbased European Prospective Investigation into Cancer and Nutrition (E
The dermatofibrosarcoma protuberans family of tumors (DPFT) comprises cutaneous soft tissue neoplasms associated with aberrant PDGFBR signaling, typically through a COL1A1-PDGFB fusion. The aim of the present study was to obtain a better understanding of the chromosomal origin of this fusion and to assess the spectrum of secondary mutations at the chromosome and nucleotide levels. We thus investig
The class of [NiFe]-hydrogenases comprises oxygen-sensitive periplasmic (PH) and oxygen-tolerant membrane-bound (MBH) enzymes. For three PHs and four MBHs from six bacterial species, structural features of the nickel-iron active site of hydrogen turnover and of the iron-sulfur clusters functioning in electron transfer were determined using X-ray absorption spectroscopy (XAS). Fe-XAS indicated surp
