Filetype
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly ex
In 2014 a small fire started in a forest in central Sweden. Within a few days it developed into the largest wildfire in Sweden in the last 50 years. As the scale of the fire increased, so did the need for direction and coordination of the resources engaged in the response operation. Both official investigators and the research community have studied the challenges and come up with recommendations
Both genetic and lifestyle factors contribute to the risk of non-alcoholic steatohepatitis (NASH). Additionally, epigenetic modifications may also play a key role in the pathogenesis of NASH. We therefore investigated liver DNA methylation, as a marker for epigenetic alterations, in individuals with simple steatosis and NASH, and further tested if these alterations were associated with clinical ph
This volume presents a series of case studies that trace the ways in which audiences across Europe have attempted to return to Pompeii by emulating its interior decorations since the city’s rediscovery in the mid-eighteenth century. As such, it is about both the impact of Pompeian antiquity on the present and the reception in the present of that antique past, exploring the variety of ways in whichThis volume presents a series of case studies that trace the ways in which audiences across Europe have attempted to return to Pompeii by emulating its interior decorations since the city’s rediscovery in the mid-eighteenth century. As such, it is about both the impact of Pompeian antiquity on the present and the reception in the present of that antique past, exploring the variety of ways in which
The aggregation of the amyloid β peptide (Aβ) into amyloid fibrils is a defining characteristic of Alzheimer's disease. Because of the complexity of this aggregation process, effective therapeutic inhibitors will need to target the specific microscopic steps that lead to the production of neurotoxic species. We introduce a strategy for generating fibril-specific antibodies that selectively suppres
Objective: To elucidate the ultrasound features that can discriminate between benign and malignant ovarian cysts with papillary projections but no other solid component in pregnant women. Methods: Thirty-four women with an ultrasound diagnosis of an ovarian cyst with papillary projections but no other solid component that had been removed surgically during pregnancy were identified from the databa
Objective: Nuclear receptor interacting protein 1 (NRIP1) is an important energy regulator, but few studies have addressed its role in humans. This study investigated adipose tissue and skeletal muscle NRIP1 gene expression and serum levels in response to weight loss and exercise in humans. Methods: NRIP1 expression was measured by microarray and serum NRIP1 by ELISA and Western blotting. Skeletal
Toll-like receptor (TLR) signaling is important in the initiation of immune responses and subsequent instigation of adaptive immunity. TLR2 recognizes bacterial lipoproteins and plays a central role in the host defense against bacterial infections, including those caused by Staphylococcus aureus. Many studies have demonstrated the importance of TLR2 in murine S. aureus infection. S. aureus evades
Birth defects, which are in part caused by exposure to environmental chemicals and pharmaceutical drugs, affect 1 in every 33 babies born in the United States each year. The current standard to screen drugs that affect embryonic development is based on prenatal animal testing; however, this approach yields low-throughput and limited mechanistic information regarding the biological pathways and pot
BACKGROUND: Structural anomalies of white matter are found in various brain regions of patients with schizophrenia and bipolar and other psychiatric disorders, but the causes at the cellular and molecular levels remain unclear. Oxidative stress and redox dysregulation have been proposed to play a role in the pathophysiology of several psychiatric conditions, but their anatomical and functional con
Protein S deficiency is a known risk factor for thrombosis. The coexistence of phenotypic type I (reduction in total and free antigen) and type III (reduction in free antigen only) protein S deficiencies in 14 of 18 families was recently reported. We investigated the cause of this phenotypic variation in the largest of these families (122 family members, including 44 affected individuals) using bo
Type III protein S deficiency is characterized by a low plasma level of free protein S, whereas the total concentration of protein S is normal. In contrast, both free and total protein S levels are low in type I deficiency. To elucidate the molecular mechanism behind the selective deficiency of free protein S in type III deficiency, the relationship between the plasma concentrations of β-chain con
The savanna complex is a highly diverse global biome that occurs within the seasonally dry tropical to sub-tropical equatorial latitudes and are structurally and functionally distinct from grasslands and forests. Savannas are open-canopy environments that encompass a broad demographic continuum, often characterised by a changing dominance between C3-tree and C4-grass vegetation, where frequent env
Background Combined oral contraceptives are classified by the International Agency for Research on Cancer as a cause of cervical cancer. As the incidence of cervical cancer increases with age, the public-health implications of this association depend largely on the persistence of effects long after use of oral contraceptives has ceased. Information from 24 studies worldwide is pooled here to inves
Fermented oat-based foods offer attractive prospects within the market of non-dairy functional products, since they are suitable substrates for the delivery of probiotic microorganisms, and are significant sources of dietary fiber, both insoluble and soluble such as β-glucan, good quality fat and other phytochemicals important for human health.In the present work, whole oat flour was fermented wit
This thesis approaches how International Human Rights Law is addressing the protection of indigenous peoples’ right to land when States give concessions for companies to act inside indigenous traditional territory. Cases of harmful conducts committed by companies in indigenous territory are continuously happening around the world. Regional systems of human rights protection, through their state-ce
Long-term noninvasive respiratory support, comprising continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV), in children is expanding worldwide, with increasing complexities of children being considered for this type of ventilator support and expanding indications such as palliative care. There have been improvements in equipment and interfaces. Despite growing experience, t
