Diamond-Blackfan anemia (DBA) is a rare congenital disease where the patients suffer from macrocytic anemia due to reduced numbers of erythroid precursors in the bone marrow. Most patients carry mutations in ribosomal proteins, such as ribosomal protein S19 (RPS19), which causes deficient ribosome biogenesis and affects protein translation. Ribosomal protein mutations also cause increased apoptosi

Since industrialization, Sweden has experienced an amazing growth trajectory. In 1850, Sweden was a quite poor and peripheral country, with GDP levels close to the world’s average. One and a half centuries later, Sweden ranks among the richest countries in the world with GDP levels more than three times the world’s average (Schön 2013). Yet apart from a few case studies and some industry studies,

This paper reports an investigation of a highly stratified methanol direct injection spark ignition (DISI) engine with a high compression ratio. The effects of the start of injection (SOI), spray-included angle, injection pressure, and spark timing (ST) on in-cylinder flow, fuel distribution, flame propagation, and engine performance are evaluated in detail. The combustion process of methanol DISI

Reliable tools for fracture risk assessment are necessary to handle the challenge with an aging population and the increasing occurrence of bone fractures. As it is currently difficult to measure local damage parameters experimentally, computational models could be used to provide insight into how cortical bone microstructure and material properties contribute to the fracture resistance. In this s

Retinal ischemia remains a major cause of blindness in the world with few acute treatments available. Recent emphasis on retinal vasculature and the ophthalmic artery's vascular properties after ischemia has shown an increase in vasoconstrictive functionality, as previously observed in cerebral arteries following stroke. Specifically, endothelin-1 (ET-1) receptor-mediated vasoconstriction regulate

Soil carbon (C) and nitrogen (N) availability depend on the breakdown of soil polymers such as lignin, chitin, and protein that represent the major fraction of soil C and N but are too large for immediate uptake by plants and microorganisms. Microorganisms may adjust the production of enzymes targeting different polymers to optimize the balance between C and N availability and demand, and for inst

Today plant-based alternatives to animal-agricultural products are made available or developed alongside ‘cultured’ meat, and products utilising genetic modification. To proponents, this signifies the emergence of ‘cellular agriculture’ as a food-production field or the possibility of a ‘post-animal bioeconomy’: a way to safely and sustainably produce animal products without animals. Drawing on pr

Background: Novel efficacious treatments with long-term tolerability are needed for transplant-ineligible, newly diagnosed multiple myeloma (NDMM) patients. This phase 2 study evaluated the safety and efficacy of all-oral ixazomib-cyclophosphamide-dexamethasone (ICd) followed by single-agent ixazomib maintenance. Patients and methods: Patients were randomised (1:1) to receive 4.0 mg of ixazomib, 3

Most land-living organisms regularly experience dehydration. In nature, one commonly applied strategy to protect against this osmotic stress is to introduce small polar molecules with low vapor pressure, commonly called osmolytes. Two examples of naturally occurring small polar compounds are urea and trimethylamine N-oxide (TMAO), which are known to have counteracting effects on protein stability.

The outer layer of the skin, stratum corneum (SC) is an efficient transport barrier and it tolerates mechanical deformation. At physiological conditions, the majority of SC lipids are solid, while the presence of a small amount of fluid lipids is considered crucial for SC barrier and material properties. Here we use solid-state and diffusion nuclear magnetic resonance to characterize the compositi

An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. The experts agreed that, with the increasing availability of high-throughput testing platforms and the registration of poly-ADP-ribose-polymerase inhibitors, the need for genetic counselling

When including relativistic effects in quantum chemical calculations, basis sets optimized for relativistic Hamiltonians such as the atomic natural orbital-relativistic core-correlated (ANO-RCC) basis set have to be used to avoid large errors that appear upon contraction of the basis set. While the large size of the ANO-RCC basis set in terms of primitive basis functions allows for highly accurate

BACKGROUND: The role of vitamin D in obesity and diabetes is debated. Obese and/or diabetic patients have elevated levels of free fatty acids, increased susceptibility to gastrointestinal symptoms and are suggested to have altered vitamin D balance. The enteric nervous system is pivotal in regulating gastrointestinal activity and high fat diet (HFD) has been shown to cause loss of enteric neurons

Allemansrätten påverkar bostadsbyggandet genom dess betydelse för detaljplaner, bygglov och fastighetsbildning. Det blir lätt snårig juridik när olika myndigheter och intressen möts och det gäller att hålla isär begrepp som strandskydd, fastighet, tomt och hemfridszon för att bena ut vad som egentligen gäller.

In this presentation we review the evolution of radio access networks and introduce 5G, based on the current plans and expectations, as reported in the recent series of the Ericsson Mobility Reports. Standardization is an on-going effort, and much industry research is devoted to finding a good match of requirements - balancing system performance, flexibility and implementation imphcations. We pres