Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be beneficial to improve disease phenotypes. Here we report a mutation-independent strategy to upregulate the expression of a disease-modifying gene associated with congenital muscular dystrophy type 1A (MDC1A) using the CRISPR activation system in m

Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available. In order to identify LAMA2-CMD biomarkers we have profiled miRNAs in urine from the dy2J /dy2J mouse model of LAMA2-

Fossilized eyes permit inferences of the visual capacity of extinct arthropods1–3. However, structural and/or chemical modifications as a result of taphonomic and diagenetic processes can alter the original features, thereby necessitating comparisons with modern species. Here we report the detailed molecular composition and microanatomy of the eyes of 54-million-year-old crane-flies, which togethe

This paper estimates the effect of female economic empowerment on domestic violence. I use individual level data from high-quality Swedish administrative registers on women's earnings and hospital visits relating to assault. With this third-party reported violence measure, I overcome the issue of selective under-reporting of violence. I proxy female economic empowerment with a measure of women's p

Peel testing is used to study adhesive fracture in packaging material laminates. The focus is on improved understanding of the mechanisms that provide a laminate's adhesive properties, as measured by standard macroscopic tests. Using a specially-designed peel test load rig, peel tests are performed in-situ in a laboratory X-ray tomograph. The peel test results are analyzed using a combination of tPeel testing is used to study adhesive fracture in packaging material laminates. The focus is on improved understanding of the mechanisms that provide a laminate's adhesive properties, as measured by standard macroscopic tests. Using a specially-designed peel test load rig, peel tests are performed in-situ in a laboratory X-ray tomograph. The peel test results are analyzed using a combination of t

We study a scenario where a monitor is interested in the freshest possible update from a remote sensor. The monitor also seeks to minimize the number of updates that exceed a certain freshness threshold, beyond which, the information is deemed to be too old. Previous work has presented results for First Come First Served (FCFS) systems. However, it has been shown that Last Come First Served (LCFS)We study a scenario where a monitor is interested in the freshest possible update from a remote sensor. The monitor also seeks to minimize the number of updates that exceed a certain freshness threshold, beyond which, the information is deemed to be too old. Previous work has presented results for First Come First Served (FCFS) systems. However, it has been shown that Last Come First Served (LCFS)

Plant-based diets are the main source of nutrients for vegetarians worldwide and for low-income inhabitants of developing countries, such as in rural areas of Bolivia. These diets may contain high levels of mineral inhibitors such as phytate that impairs mineral absorption in the human gut. Low intake of minerals in combination with mineral inhibitors is a critical factor leading to mineral defici

In this paper we study reliability, timeliness and load reduction in an hybrid Mobile Edge Computing (MEC)/Cloud game streaming infrastructure. In our scenario, a user plays a game streamed by the producer to their handheld device – or User Equipment (UE). The UE communicates user actions to the edge/cloud via the mobile communication infrastructure; the object is to retrieve the latest game statuIn this paper we study reliability, timeliness and load reduction in an hybrid Mobile Edge Computing (MEC)/Cloud game streaming infrastructure. In our scenario, a user plays a game streamed by the producer to their handheld device -- or User Equipment (UE). The UE communicates user actions to the edge/cloud via the mobile communication infrastructure; the object is to retrieve the latest game stat

Vetenskaplig kommentar till Magnus Gabriel de la Gardies psalm 621 i Den svenska psalmboken 1986

Vetenskaplig kommentar till Lucidors psalm

Study Objective: To understand young women's experiences of receiving a diagnosis related to diverse sex development.Design: A qualitative narrative analysis of interviews.Setting: Karolinska University Hospital.Participants: Nine women (aged 20-26 years) with complete androgen insensitivity syndrome, XY or XX gonadal dysgenesis.Interventions: Semistructured interviews.Main Outcome Measures: A nar

Objective This study investigates various kinds of knowing that European parents use when caring for their children with congenital adrenal hyperplasia (CAH). Methods Semi-structured qualitative interviews with 20 parents of 22 children with CAH. Results Parents emphasized the importance of knowing what CAH is and what support their child needs, but also knowing how to cope and make sense of the n

When sex characteristics develop in ways that do not conform to binary models, dilemmas arise regarding how to understand the situation and what terminology to use to describe it. While current medical nomenclature suggests that it should be understood as a disorder of sex development (DSD) prompting medical responses, many describe intersex as a human variation in sexed embodiment that should be

De individer, identiteter, uttryck och samlevnadsformer som idag kan sammanfogas under akronymen hbtq+ har genom historien betraktas på många olika vis. Psykologin har varit central för hur hbtq+ har förståtts, definierats och behandlats. I detta kapitel betraktas hbtq+historien därför med psykologiska glasögon.

Today, negative induced polarization (IP) time-domain responses and responses with non-standard shapes are generally considered as measurement errors and removed in data processing before inversion. However, synthetic and field measurements show that these responses are in fact physically possible and that a simple theoretical explanation of the basic mechanism for their origin can be found by mea

Ground improvement with lime-cement pillars is becoming increasingly common in the Nordic countries for exploitation of areas with poor stability. However, there is no non-destructive method for quality control of the ground improvement. Significant changes in the electrical properties after mixing of the binders make electrical resistivity tomography (ERT) a potential method. In connection with l

The Holocene, which currently spans ~11 700 years, is the shortest series/epoch within the geological time scale (GTS), yet it contains a rich archive of evidence in stratigraphical contexts that are frequently continuous and often preserved at high levels of resolution. On 14 June 2018, the Executive Committee of the International Union of Geological Sciences formally ratified a proposal to subdi