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Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska Universi

Molecular beacons (MBs) have been used on surfaces for detecting oligonucleotides. Attempts to use them intracellularly for monitoring mRNA content have been made, however, without any clear conclusion regarding the reliability of the method, mainly due to false positive signals. To reach an understanding of the intracellular fate of MBs, a critical question remains: how long after MB delivery and

BACKGROUND: The complement inhibitor CSMD1 acts as a tumor suppressor in various types of solid cancers. Despite its high level of expression in the brain, its function in gliomas, malignant brain tumors originating from glial cells, has not been investigated.METHODS: Three cohorts of glioma patients comprising 1500 patients were analyzed in our study along with their clinical data. H4, U-118 and

Increasingly social activists, journalists and policy makers have expressed concern over the proliferation of conspiracy theories in the public space. There is a growing fear of their impact on social cohesion and democracy, their power to erode trust in state institutions and science. These concerns often come with an expectation that it is the responsibility of academics to engage with conspirac

Background: Patients with obesity have a higher risk of complications after total knee arthroplasty (TKA). We investigated the change in weight 1 and 2 years post-Bariatric Surgery (BS) in patients that had undergone both TKA and BS as well as the risk of revision after TKA based on if BS was performed before or after the TKA. Methods: Patients who had undergone BS within 2 years before or after T

Agencies that regulate electricity providers often apply nonparametric data envelopment analysis (DEA) to assess the relative efficiency of each firm. The reliability and validity of DEA are contingent upon selecting relevant input variables. In the era of big (wide) data, the assumptions of traditional variable selection techniques are often violated due to challenges related to high-dimensional

AIM: We aimed to examine the effect of Ramadan fasting on interstitial glucose control and variability before, during, and after Ramadan in type 2 diabetes patients receiving insulin therapy.METHODS: Participants received a flash glucose monitoring (FGM) system one week before Ramadan that was removed on the sixth or seventh day (pre- and early Ramadan periods) of Ramadan and a second FGM system o

The activation of G Protein-Coupled Receptor 56 (GPR56), also referred to as Adhesion G-Protein-Coupled Ceceptor G1 (ADGRG1), by Collagen Type III (Coll III) prompts cell growth, proliferation, and survival, among other attributes. We investigated the signaling cascades mediating this functional effect in relation to the mitochondrial outer membrane voltage-dependent anion Channel-1 (VDAC1) expres

The first part of the chapter provides an introduction on the implementation of quality-assurance programmes in nuclear medicine (NM) services. It is argued that participation in interlaboratory comparisons has two main benefits. First, on top of existing local quality-assurance programmes, participation can add a level of reassurance on quality. Second, interlaboratory comparisons are prerequisit

Permafrost contains about 50% of the global soil carbon. It is thought that the thawing of permafrost can lead to a loss of soil carbon in the form of methane and carbon dioxide emissions. The magnitude of the resulting positive climate feedback of such greenhouse gas emissions is still unknown and may to a large extent depend on the poorly understood role of microbial community composition in reg

Health care is moving toward integrated services where care and rehabilitation are provided at home rather than in institutions. This, together with the requirement that care must be person-centered, has proven to be a considerable challenge. Older adults living with complex health conditions such as stroke are vulnerable to change when their responsibility for care and rehabilitation becomes exte