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Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2

Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing by the HUSH complex. HUSH recruits MORC2 to target sites in heterochromatin. We ex

Lay Health Promoters Empower Neighbourhoods : Results From a Community-Based Research Programme in Southern Sweden

This article focuses on the role of lay health promoters in the Lindängen initiative, a community-based participatory research (CBPR) programme for health promotion that started 2016 in a low-income neighbourhood in the outskirts of Malmö, southern Sweden. The programme aimed to support equitable health and develop an innovative model for community health promotion. The purpose of this article is

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium

Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; th

Future-Oriented Methodologies for Sustainability

Both in the social and natural sciences, methodologies have been developed to deal with relatively stable conditions, where findings can be validated based on past experiences. At a time when both social and natural phenomena are rapidly changing, new approaches are urgently needed to produce knowledge for systemic change, inform high-stakes decisions, and enable sustainability transitions in the

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expressi

Vertebral Hemangiomas : Prevalence, New Classification and Natural History. Magnetic Resonance Imaging-Based Retrospective Longitudinal Study

Background and purpose: To determine the prevalence of vertebral hemangiomas (VHs), establish a new classification of VHs based on their MRI-signal pattern, and study their natural history. Methods: MRI of 1000 consecutive patients who underwent at least two MRI with an interval of at least 3 years. Growth rate and change of MRI-signal pattern during the follow-up period were the parameters includ

Education of Refugees

The educational opportunities of refugee learners are shaped by forces of globalization, restrictive mobility regimes and geopolitical agendas, that place them in a position of structural disadvantage. The majority of the world's refugee learners have fled due to armed conflict and reside in neighboring countries in the global South. In many cases forced displacement is protracted, with limited gl

Negotiations of step-grandparenting

Almost half of all divorced Swedes today are aged 60+ and many of them are, or have been, a part of a reconstituted family (Bildtgård & Öberg 2014). This means that the probability of having step-grandchildren increases in a life cycle perspective. For those who have never had neither children nor stepchildren, a sibling's or a friend's grandchild can have the same meaning as a step-grandchildAlmost half of all divorced Swedes today are aged 60+ and many of them are, or have been, a part of a reconstituted family (Bildtgård & Öberg 2014). This means that the probability of having step-grandchildren increases in a life cycle perspective. For those who have never had neither children nor stepchildren, a sibling's or a friend's grandchild can have the same meaning as a step-grandchild

Live well, die well - an international cohort study on experiences, concerns and preferences of patients in the last phase of life: the research protocol of the iLIVE study

Introduction Adequately addressing the needs of patients at the end of life and their relatives is pivotal in preventing unnecessary suffering and optimising their quality of life. The purpose of the iLIVE study is to contribute to high-quality personalised care at the end of life in different countries and cultures, by investigating the experiences, concerns, preferences and use of care of termin

Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer

To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to po

Acute postoperative endophthalmitis : Microbiology from the laboratory to the bedside

Postoperative endophthalmitis is a dreaded complication of intraocular surgery. Acute presentations need prompt management and good knowledge of differential diagnoses. In the last 10 years, progress in direct microbial detection and identification from intraocular samples included the use of blood culture systems and, more recently, matrix-assisted laser desorption ionization time-of-flight mass

Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study

Background: This international study aimed to characterise the impact of acute SARS-CoV-2 infection in people with cystic fibrosis and investigate factors associated with severe outcomes. Methods Data from 22 countries prior to 13th December 2020 and the introduction of vaccines were included. It was de-identified and included patient demographics, clinical characteristics, treatments, outcomes an

Gender Equal Citizenship and Ethno-National Conflict : Women's Political Activism and Public Participation During the Northern Irish Troubles

This paper provides a theoretical synthesis of three research areas – gender, nationalism and citizenship – by linking together the gendered discourses of ethno-nationalism and citizenship. It explores the potential for building a gender equal citizenship in societies divided by ethno-national conflict. More specifically, it analyzes women’s activism and participation in public and political life

Therapeutic Value of Sentinel Lymph Node Biopsy in Patients With Melanoma: A Randomized Clinical Trial

Importance: Sentinel lymph node (SLN) biopsy is a standard staging procedure for cutaneous melanoma. Regional disease control is a clinically important therapeutic goal of surgical intervention, including nodal surgery. Objective: To determine how frequently SLN biopsy without completion lymph node dissection (CLND) results in long-term regional nodal disease control in patients with SLN metastase

Rare genetic variants explain missing heritability in smoking

Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four