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Elucidating regulators of red blood cell development in health and disease

Våra röda blodkroppar lever i genomsnitt 120 dagar och bryts därefter ner avmakrofagerna, immunsystemets medfödda städare av både främmande och egnaceller. De röda blodkropparnas uppgift är att transportera syre från lungorna tillkroppens olika vävnader och föra tillbaka koldioxid. Men vad händer om de rödablodkropparna bryts ner ovanligt snabbt eller helt enkelt inte produceras i tillräckligtsnabRed blood cells are are plentiful, flexible and essential. They are the most abundant cell in our body and their mainobject is to carry oxygen, which is essential for cellular respiration. The formation of red blood cells is callederythropoiesis. Erythropoiesis is intimately coupled to cell division and mitochondrial function. Aberrations in thesetwo processes are often associated with red blood c

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have reduce

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human ALG6 (hALG6). This gene encodes the alpha1,3-glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. In this report, we describe the first adult patient diagnosed with CDG-Ic, carrying two p

Exploring the masculinization of innovation practice within a municipality

Purpose: The purpose of this study is to generate an empirically informed theoretical framework which can be used to analyze the relationship between gender and innovation in the context of a municipality. The authors present and analyze three illustrative tales from a feminist perspective. The authors thus offer a more balanced approach to the conceptualization of gendered ascriptions with respec

Comprehension, mapping and reporting of climate-related risks among listed firms in Sweden

We study the comprehension, mapping, and reporting of climate-related risks among firms listed on the NasdaqOMX stock exchange in Stockholm. Our study contains two parts: i) a study on the firms’ external communication through their annual reports, sustainability reports and webpages, and ii) a follow-up survey addressed to each firm’s management team. We find that firms are likely to engage in so

Pro-tumoral behavior of omental adipocyte-derived fibroblasts in tumor microenvironment at the metastatic site of ovarian cancer

Adipocyte-rich omentum offers “good soil” for disseminating ovarian cancer (OvCa), contributing to therapeutic difficulty. However, little is understood about the association between adipocytes and tumor growth at peritoneal dissemination site. Herein, we report the induction of adipocyte dedifferentiation by OvCa cells and pro-tumorigenic effects of resulted adipocyte-derived fibroblasts. We conf

Material perception and action : The role of material properties in object handling

This dissertation is about visual perception of material properties and their role in preparation for object handling. Usually before an object is touched or picked-up we estimate its size and shape based on visual features to plan the grip size of our hand. After we have touched the object, the grip size is adjusted according to the provided haptic feedback and the object is handled safely. Simil

Frontiers of robotic colonoscopy : A comprehensive review of robotic colonoscopes and technologies

Flexible colonoscopy remains the prime mean of screening for colorectal cancer (CRC) and the gold standard of all population-based screening pathways around the world. Almost 60% of CRC deaths could be prevented with screening. However, colonoscopy attendance rates are affected by discomfort, fear of pain and embarrassment or loss of control during the procedure. Moreover, the emergence and global

Propensity, free energy contributions and conformation of primary : N -alcohols at a water surface

Atmospheric aerosols contain organic molecules that serve as cloud condensation nucleation sites and affect the climate. Several experimental and simulation studies have been dedicated to investigate their surface propensity, but the mechanisms that drive them to the water surface are still not fully understood. In this molecular dynamics (MD) simulation study, primary alcohols are considered as a

Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.

High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase

Asparaginase is a mainstay of treatment of childhood acute lymphoblastic leukemia. Pegylation of asparaginase extends its biological half-life and has been introduced in the newest treatment protocols aiming to further increase treatment success. Hyperammonemia is a recognized side effect of asparaginase treatment, but little is known about its incidence and clinical relevance. Alerted by a patien

The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism : A Caco-2 Cell Model

Background: Vitamin B6 is present in various forms (vitamers) in the diet that need to be metabolized to pyridoxal phosphate (PLP), the active cofactor form of vitamin B6. In literature, the liver has been reported to be the major site for this conversion, whereas the exact role of the intestine remains to be elucidated. Objective: To gain insight into the role of the intestine in human vitamin B6

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In this clinical case, the importance of early detection of Hurler syndrome for outcomes of stem cell transplantation in this patient population is illustrated. Nowadays, children with Hurler syndrome can be treated with stem cell transplantation, but the results largely depend on the moment of treatment. If the procedure is initiated in an early stage of disease, better results can be obtained. T

New distributional, biological and taxonomic information on the genus Eulophinusia Girault (Hymenoptera : Eulophidae)

The genus Eulophinusia Girault (Hymenoptera: Eulophidae), previously known from Australia and India, is newly recorded from the Americas (Canada, Costa Rica, Dominican Republic). The morphological diagnosis of the genus is enhanced through the discovery of an unnoticed and unique feature - an intricate jigsaw-like microsculptural pattern on the mesoscutellum. The new species described here, Euloph

Social housing providers as unlikely low-carbon innovators

Social housing providers have recently emerged as unlikely innovators of low carbon transitions in the UK residential sector. They tend to have a significant amount of influence over large housing stocks, op- portunities to access funding to retrofit on a large scale, can make explicit connections between reduced carbon emissions and improved quality of life for low-income residents, and foster a

Light competition and phenological adaptation of annual plants to a changing climate

Shifting flowering seasons is a global effect of climate change that can have important long-term evolutionary and demographic effects on plant communities. Life history optimization theory can be a valuable tool to assert the adaptive value and fitness effects of observed phenological shifts, but takes plant-plant competition rarely into account. Here we combine energy allocation models with evol