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Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson's disease (PD), especially in patients diagnosed with progressive external ophthalmoplegia (PEO). However, the majority of the studies reporting this association mainly focused on the genetic identification of the variation in POLG1 in PD patient prima

α-Synuclein is a presynaptic protein associated to Parkinson's disease, which is unstructured when free in the cytoplasm and adopts α helical conformation when bound to vesicles. After decades of intense studies, α-Synuclein physiology is still difficult to clear up due to its interaction with multiple partners and its involvement in a pletora of neuronal functions. Here, we looked at the remarkab

In mitosis, transcription factors (TFs) and RNA polymerase disperse across the cytoplasm leading to transcriptional silencing, but some TFs are retained on condensed chromatin and mark genomic sites, a mechanism termed mitotic bookmarking. In pluripotent and differentiated cells this mechanism is important for pluripotency maintenance, cell reprogramming and lineage inheritance. However, the role

Small cell lung cancer (SCLC) is characterized by rapid growth and high metastatic capacity. It has strong epidemiologic and biologic links to tobacco carcinogens. Although the majority of SCLCs exhibit neuroendocrine features, an important subset of tumors lacks these properties. Genomic profiling of SCLC reveals genetic instability, almost universal inactivation of the tumor suppressor genes TP5

Background and aims: Several different scoring systems for early risk stratification after out-of-hospital cardiac arrest have been developed, but few have been validated in large datasets. The aim of the present study was to compare the well-validated Out-of-hospital Cardiac Arrest (OHCA) and Cardiac Arrest Hospital Prognosis (CAHP)-scores to the less complex MIRACLE2- and Target Temperature Mana

Context: Medications may become inappropriate for patients in the last phase of life and may even compromise their quality of life. Objective: To find consensus on recommendations regarding deprescribing of medications for adult patients with a life expectancy of six months or less. Methods: Experts working in palliative care or other relevant disciplines were asked to participate in this internat

Popular Abstract in Swedish Extremt stora teleskop, optisk konstruktion och vågfrontskorrektion 1 Nya resultat inom astronomin För astronomin har senare årtionden varit ytterst händelserika. Ett flertal fascinerande upptäckter har förädlat vår kunskap om universum och dess stjärnor, planeter, galaxer och storskaliga strukturer. Vi har fått bättre grepp om universums ålder, struktur och utvecklinAn overview of the state of art within optical design of large astronomical telescopes is given. Recent advances within the field are presented. The importance of new computer-controlled mirror-polishing methods is emphasized. Some important aspects of atmospheric optics are presented together with current compensation methods using adaptive optics, with or without laser guide stars. An overview o

Aim: To describe the use of mobility devices among people ageing with spinal cord injury (SCI), with a specific focus on use of powered mobility devices (PMD) and housing accessibility. Method: Data on the use of walking aids (cane, crutch/es or rollator), manual wheelchair and powered wheelchair/scooter were utilized. To describe functional limitations, environmental barriers and the magnitude of

We report on the results of our recent theoretical and experimental investigations of a novel, room temperature electrical property of three-terminal ballistic junctions (TBJs). For a symmetric TBJ device, it is found that when finite voltages V-1 and V-r are applied in push-pull fashion, with V-1 = V and V-r = - V. to the left and right branches, the voltage output V-c from the central branch wil

OBJECTIVES: To explore treatment outcomes preferred by patients with early rheumatoid arthritis (RA) and how these change throughout the early disease stage across three European countries. METHODS: A longitudinal, qualitative, multicentre study was conducted in Belgium, the Netherlands and Sweden. 80 patients with early RA were individually interviewed 3-9 months after treatment initiation and 51

BACKGROUND: The aim of this study was to investigate the association between factors in metabolic syndrome (MetS; single and combined) and the risk of pancreatic cancer. METHODS: The Metabolic Syndrome and Cancer Project is a pooled cohort containing data on body mass index, blood pressure, and blood levels of glucose, cholesterol, and triglycerides. During follow-up, 862 individuals were diagnose

N-terminal pro-B-type natriuretic (NT-proBNP) is expressed in the heart and brain, and serum levels are elevated in acute heart and brain diseases. We aimed to assess the possible association between serum levels and neurological outcome and death in comatose patients resuscitated from out-of-hospital cardiac arrest (OHCA). Of the 939 comatose OHCA patients enrolled and randomized in the Targeted

This paper attempts to address the failings of a predominant paradigm in IS research and practice that emphasises technological determinism. This paradigm makes use of a false belief in the power of rationality in organizational decision-making, and a mythology in which organizational actors can be viewed as passive ‘users’ of technology. We wish to create a discussion of the nature and role of pr

We used the nationwide Swedish Family-Cancer Database to analyze the risk for nervous system tumors in offspring through parental and sibling probands. Among 0-68-year-old offspring, close to 11000 patients with a nervous system tumor were identified in years 1961 to 2000, among whom 199 had a parent diagnosed with a nervous system tumor. Brain tumors constituted 86% of all tumors, and astrocytoma

Second cancers were studied among 68,104 cases of colorectal cancer (CRC) from the Swedish Family-Cancer Database. A total of 1,113 patients received a diagnosis of second CRC; 25 of them had a family history of CRC. Cases of second CRC with a family history were diagnosed up to 10 years before sporadic cases. The relative risk (RR) of all second CRCs was 2.21 compared with the first CRC. Familial

Artificial intelligence (AI) applications are increasingly seeing use in breast imaging, particularly to assist in or automate the reading of mammograms. Another novel technique is mechanical imaging (MI) which estimates the relative stiffness of suspicious breast abnormalities by measuring the distribution of pressure on the compressed breast. This study investigates the feasibility of combining

Aim: To determine the ability of serum glial fibrillary acidic protein (GFAp) and tau protein to predict neurological outcome after out-of-hospital cardiac arrest (OHCA). Methods: We measured plasma concentrations of GFAp and tau of patients included in the previously published COMACARE trial (NCT02698917) on intensive care unit admission and at 24, 48, and 72 h after OHCA, and compared them to ne

The European Resuscitation Council (ERC) and the European Society of Intensive Care Medicine (ESICM) have collaborated to produce these post-resuscitation care guidelines for adults, which are based on the 2020 International Consensus on Cardiopulmonary Resuscitation Science with Treatment Recommendations. The topics covered include the post-cardiac arrest syndrome, diagnosis of cause of cardiac a