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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.

Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious varian

Cabozantinib Resolves Bone Scans in Tumor-Naive Mice Harboring Skeletal Injuries

The receptor tyrosine kinase inhibitor cabozantinib (XL184, BMS-907351 Cometriq) has displayed impressive clinical activity against several indications, culminating in its recent approval for medullary thyroid cancer. Among malignancies with tropism for the bone (prostate, breast), one striking feature of early clinical reports about this drug has been the rapid and complete resolution of bone sca

Molecular structure and interaction of recombinant human type XVI collagen

Collagen XVI is a minor component of at least two different extracellular fibrillar networks of specialized regions of skin and cartilage. In skin, collagen XVI is integrated into particular fibrillin-rich microfibrils lacking an amorphous elastin core. In cartilage, collagen XVI is a component of small heterotypic D-banded fibrils, mainly occurring in the territorial matrix of chondrocytes. Here,

Coordinated Multi-Stage Inventory Systems with Stochastic Demand

This thesis is based on six scientific papers providing different methods for coordinated inventory control in supply chains. The main focus is on supply chains in connection with distribution of products to customers. Two different problem areas are considered. One problem area concerns coordination by centralized optimization of local decision rules. It is assumed that the decision system is ce

Sacrifice and Symbol : Biblical Shelamim in a Ritual Perspective

Popular Abstract in Swedish Många tolkningar och användningsområden har av olika forskare föreslagits för det gammaltestamentliga offret shelamin. Detta offer hade också en oklar plats i den israelitiska kulturen. Avsaknaden av konsensus och misslyckandet med att nå fram till en tillfredsställande lösning på gåtan gör shelamim till ett intressant offer att undersöka med hjälp av modern ritualforskFor the sacrifice shelamim in the Hebrew Bible, scholars have suggested a number of different interpretations and uses. This sacrifice also had an ambiguous role in Israelite culture. Lack of a general consensus and the failure to reach a satisfying solution makes the shelamim a puzzle and an interesting sacrifice to investigate with insights gained from modern ritual studies. In this study, it i

Nordic biological specimen banks as basis for studies of cancer causes and control - more than 2 million sample donors, 25 million person years and 100 000 prospective cancers

The Nordic countries have a long tradition of large-scale biobanking and comprehensive, population-based health data registries linkable on unique personal identifiers, enabling follow-up studies spanning many decades. Joint Nordic biobank-based studies provide unique opportunities for longitudinal molecular epidemiological research. The purpose of the present paper is to describe the possibilitie

Late Pleistocene-early Holocene fluvial facies and depositional processes in the Fehmarn Belt, between Germany and Denmark, revealed by high-resolution seismic and lithofacies analysis

In the narrow offshore border zone between Germany and Denmark, 550 km of high-density 3.5-kHz subbottom seismic reflection profiles were recorded within a 70-km(2) area in order to reconstruct the seismic stratigraphy of late Pleistocene to early Holocene lacustrine and fluvial environments. Using detailed line drawings, seismic facies analyses and a hierarchy of bounding surfaces, a depositional

Induced morphological defenses in the wild: Predator effects on a mayfly, Drunella coloradensis

Phenotypic plasticity may enable organisms to optimize their phenotypes in environments that are heterogeneous over time or space. For example, inducible defenses are favored for prey populations faced with variable predation risk. We studied the impact of brook trout (Salvelinus fontinalis) on the development of defensive morphological characters in larvae of the mayfly, Drunella coloradensis, bo

Electronic and structural analysis of Sb-induced GaAs(100)(2x4) and (2x8) surfaces

Electronic and structural properties of Sb-induced GaAs(100)(2x4) and (2x8) surfaces are studied by means of core-level and valence-band photoelectron spectroscopy utilizing synchrotron radiation and scanning tunneling microscopy. Combining these results and showing good consistency among them, we demonstrate that the Sb/GaAs(100)(2x4) surface is well compatible with the delta structural model, wh

Cytogenetic abnormalities in 106 oral squamous cell carcinomas

We report karyotypic features of 106 short-term cultured oral squamous cell carcinomas (SCC), 51 new and 55 previously reported cases, with clonal chromosome aberrations. The major cytogenetic findings were as follows: simple karyotypic changes were present in 38 cases (36%) and 68 tumors (64%) displayed complex karyotypes. The most common numerical changes were +7, +8, +9, +16, +18, +20, and -4,

Marginal behaviour of the last Scandinavian Ice Sheet during its final termination and deglaciation over Northeastern Germany

Popular Abstract in Swedish Svensk populärvetenskaplig sammanfattning Kvartärtidens avlagringar döljer mycket och detaljerad information om palaeoklimatet och de lämpar sig därför väl för att modellera palaeoklimatets förändringar. Inlandsisar är av avgörande betydelse för klimatet under kvartärtiden. Deras tillväxt och avsmältning beror till stor del på klimatiska faktorer, såsom temperatur, nedeThis thesis presents results from studies on geomorphology, lithostratigraphy and ice flow patterns during the final termination and deglaciation of the last Scandinavian Ice Sheet in NE Germany. Ice flow patterns derived from till fabrics and glaciotectonical data indicate that short-lived marginal domes had formed during the advance and the retreat of the last Scandinavian Ice Sheet in NE German

Changes in aneurysm morphology and stent-graft configuration after endovascular repair of aneurysms of the descending thoracic aorta

OBJECTIVE: We sought to study changes in morphology and stent-graft configuration of descending thoracic aortic aneurysms after endovascular repair. METHODS: Twenty-three patients treated with custom-made stent-grafts were studied. The stent-graft consisted of continuous, stainless-steel Z stents mounted within a polyester graft. In the last 11 cases the stents were interconnected with 3 longitudi

Pharmacological manipulation of fracture healing and bone remodeling

Drug treatment has been and will continue to be a successful method in modern medicine that can change the course of a disease. However, it is surprisingly seldom used in the more technically oriented orthopedic surgery. Bone healing and physiological skeletal remodeling involve a complex set of regulated signaling pathways that control the formation of new bone matrix and the resorption of damage

Land-use effects on the functional distinctness of arthropod communities

Land-use change is a major driver of the global loss of biodiversity, but it is unclear to what extent this also results in a loss of ecological traits. Therefore, a better understanding of how land-use change affects ecological traits is crucial for efforts to sustain functional diversity. To this end we tested whether higher species richness or taxonomic distinctness generally leads to increased

A Two-Way Communication between Microglial Cells and Angiogenic Sprouts Regulates Angiogenesis in Aortic Ring Cultures

Background: Myeloid cells have been associated with physiological and pathological angiogenesis, but their exact functions in these processes remain poorly defined. Monocyte-derived tissue macrophages of the CNS, or microglial cells, invade the mammalian retina before it becomes vascularized. Recent studies correlate the presence of microglia in the developing CNS with vascular network formation,

Costs for collagenase injections compared with fasciectomy in the treatment of Dupuytren's contracture: a retrospective cohort study

Objectives: To compare collagenase injections and surgery (fasciectomy) for Dupuytren's contracture (DC) regarding actual total direct treatment costs and short-term outcomes. Design: Retrospective cohort study. Setting: Orthopaedic department of a regional hospital in Sweden. Participants: Patients aged 65 years or older with previously untreated DC of 30 degrees or greater in the metacarpophalan

Quantification of differences between occupancy and total monitoring periods for better assessment of exposure to particles in indoor environments

For the assessment of personal exposure, information about the concentration of pollutants when people are in given indoor environments (occupancy time) are of prime importance. However this kind of data frequently is not reported. The aim of this study was to assess differences in particle characteristics between occupancy time and the total monitoring period, with the latter being the most frequ

Pheromones for monitoring rare and threatened insects: exploiting a pheromone-kairomone system to estimate prey and predator abundance

Pheromone-based monitoring is a promising new method for assessing the conservation status of many threatened insect species. We examined the versatility and usefulness of pheromone-based monitoring by integrating a pheromone–kairomone trapping system and pitfall trapping system in the monitoring of two saproxylic beetles, the hermit beetle Osmoderma eremita (Coleoptera: Scarabaeidae) and its pred