Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four pa

Formate is one of the key compounds of the microbial carbon and/or energy metabolism. It owes a significant contribution to various anaerobic syntrophic associations, and may become one of the energy storage compounds of modern energy biotechnology. Microbial growth on formate was demonstrated for different bacteria and archaea, but not yet for species of the archaeal phylum Crenarchaeota. Here, w

Purpose of ReviewWomen with prevalent pregnancy complications (including preterm birth and preeclampsia) have twice the risk of later cardiovascular disease (CVD) compared to unaffected women. Current prevention guidelines recommend that reproductive history should be part of a woman’s CVD risk assessment. This review synthesizes recent findings on the value of history of pregnancy complications i

OBJECTIVE: Nonalcoholic fatty liver disease (i.e., increased intrahepatic triglyceride [IHTG] content), predisposes to type 2 diabetes and cardiovascular disease. Adipose tissue lipolysis and hepatic de novo lipogenesis (DNL) are the main pathways contributing to IHTG. We hypothesized that dietary macronutrient composition influences the pathways, mediators, and magnitude of weight gain-induced ch

Introduction: A critical and as-yet unmet need in Alzheimer's disease (AD) is the discovery of peripheral small molecule biomarkers. Given that brain pathology precedes clinical symptom onset, we set out to test whether metabolites in blood associated with pathology as indexed by cerebrospinal fluid (CSF) AD biomarkers. Methods: This study analyzed 593 plasma samples selected from the European Med

Geospatial information is indispensable for various spatially-informed analysis and decision-making, e.g. traffic analysis and built environment processes. Geospatial data often must be integrated for meaningful analysis, whereas such integration is challenging due to siloed data organization, semantic heterogeneity and multiple representation of geospatial data. Moreover, the visualization of geo

The production of modem wood fuels generally requires advanced silvicultural and agricultural technology as well as large areas of suitable land. The use of cultivated crops as a resource in modern energy systems attracts the greatest interest in countries where access to wood resources is limited and where the cultivated area is large enough to support advanced harvest and cultivation systems. Cu

Objective Atrial fibrillation (AF) is the most common arrhythmia and associated with increased morbidity and mortality. Its increasing prevalence calls for novel biomarkers to identify underlying pathophysiological mechanisms as well as patients at risk. Methods Plasma samples from 1694 individuals from the Swedish population-based Malmö Preventive Project (mean age 69.5 years; 29.3% female; mean

Background: Early trials have reported a beneficial effect from tamoxifen treatment in patients with unresectable pancreatic cancer, in particular in women. However, the presence and prognostic significance of female hormone receptors in pancreatic or other periampullary cancers has not yet been described. Methods: Immunohistochemical screening of normal and malignant pancreatic tissue revealed t

Background: Obesity is a well-established risk factor for colorectal cancer (CRC), but whether this risk differs according to CRC subtype defined by the tumor immune microenvironment has been sparsely described. Herein, we examined the relationship between pre-diagnostic anthropometry and CRC risk according to tumor-infiltrating immune cell composition, with particular reference to potential sex d

Denna sammanläggningsavhandling bygger på den kritiska teorins ambition att som en motbild till rådande läge skapa en bild av hur ett frigörande och i politiskt avseende realistiskt alternativ skulle kunna se ut, ett alternativ som innebär att personer som har utsatts för sexuellt våld får ett erkännande och kan delta i samhällslivet på lika villkor som andra. Mer specifikt är syftet att förstå huThe compilation dissertation is shaped by the ambition of Critical Theory, which is to imagine an alternative and emancipatory political reality to the status quo, where people who have been subjected to sexual violence are recognised and enjoy parity of participation in social life. More specifically, it aims to understand how victim-survivors of sexual violence in Iceland perceive, experience, a

Background: There is a great unmet clinical need to identify patients with thin primary cutaneous melanomas (T1, Breslow thickness ≤ 1 mm) who have a high risk for tumor recurrence and death from melanoma. Kin of IRRE-like protein 1 (KIRREL/NEPH1) is expressed in podocytes and involved in glomerular filtration, but its expression in human cancer has not yet been reported. Screening in the Human Pr

Background: Neoadjuvant and/or adjuvant treatment has led to an improved survival in patients with resectable gastroesophageal adenocarcinoma (GEAC). Nevertheless, survival rates remain poor and, hence, there is a great need to identify novel treatment strategies and relevant complementary diagnostics. Immunotherapies targeting the PD‐1/PD‐L1 checkpoints have shown promising results, but simultane

Background: OncoMasTR is a new multigene prognostic test that was discovered via a novel transcriptional network analysis method that identified upstream Master Transcription Regulators (MTRs), which regulate previously identified prognostic biomarkers. The optimised OncoMasTR signature incorporating clinicopathological information has been shown to be significantly prognostic for predicting dista

Background: After neoadjuvant chemotherapy (NAC), about 20% of pts with muscle-invasive UC are found to have advanced pT-stage or lymph node involvement and 5-year overall survival (OS) of them is < 30%. Tumor samples from these pts may provide information about chemotherapy resistance, and may predict for the activity of new drugs given postoperatively. Alterations of FGFR3 gene represent a thera

In this chapter, I seek to answer the following questions which guide this Nordicresearch project: What is the current state of knowledge on young women’s and men’s experiences of prostitution? Which social programmes address young women’s and men’s experiences of prostitution and what ideology informs these programmes? What is the legal environment in this context and how is it being implemented?

Background: Germ cell tumor patients with intermediate prognosis (IPGCT) according to the IGCCCG classification represent a heterogeneous group exhibiting a variety of clinical features. We established a registry to identify prognostic markers to further characterize IPGCT. Methods: A retrospective observational study was performed. Eligibility criteria were intermediate prognosis according to IG

Introduction: Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths worldwide. Cyclooxygenase-2 (COX-2), which plays a key role in the biosynthesis of prostaglandin E2 (PGE2), is often up-regulated in CRC and in other types of cancer. PGE2 induces angiogenesis and tumor cell survival, proliferation and migration. The tumor suppressor 15-hydroxyprostaglandin dehydrogenase (1

Over the past few decades, the automotive industry has increasingly looked towards increasing the efficiency of the internal combustion engine to meet more stringent emission norms and as a measure to meet demands for improved air quality in cities. One method to improve the internal combustion engine efficiency is to recover some of the energy lost to the coolant and the exhaust using a secondary