Search results

Purpose: To report a family affected by familial exudative vitreoretinopathy (FEVR) in which more severe disease phenotypes segregated with digenic rather than monogenic variants in FEVR-related genes. Methods: Phenotype was documented with high-resolution imaging of retinal structure and wide-field fundus photography. Next-generation sequencing (NGS) of known genes involved in FEVR was performed.

Range expansion of species is driven by the interactions among individual- and population-level processes and the spatial pattern of habitats. In this work we study how cooperatively growing populations spread on networks representing the skeleton of complex landscapes. By separating the slow and fast variables of the expansion process, we are able to give analytical predictions for the critical c

Introduction: Factor VIII activity (FVIII:C) assays of samples containing glycoPEGylated recombinant FVIII such as turoctocog alfa pegol (N8-GP) can be associated with differences in FVIII recovery in vitro between various one-stage activated partial thromboplastin time (APTT)-based clotting assays and some chromogenic assays. Careful validation and qualification of specific assays and conditions

This paper will approach the topic “What does heritage change?” by looking at the perspectives and experiences of a special category of heritage-makers, namely so-called “transmitters of intangible cultural heritage” (feiwuzhi wenhua yichan chuancheng ren) in China. It will explore the processes of heritagization and will ask whether, and what, heritage status changes when it comes to these indivi

We use numerical simulations to study the effect of particle friction on suspension flows of non-Brownian hard particles. By systematically varying the microscopic friction coefficient μp and the viscous number J, we build a phase diagram that identifies three regimes of flow: frictionless, frictional sliding, and rolling. Using energy balance in flow, we predict relations between kinetic observab

Lunds Universitets Historiska Museum har under det gångna året vidareutvecklat sin forskningsverksamhet och i samband med det tvåhundraårsjubileum som celebrerat museets långa historia och dess spännande framtid presenterat ett smakprov på Annette Frölichs sensationella fynd av kirurgiska instrument i Uppåkra. Det nystartade projektet, som heter »Läkekonstens Uppåkra», har nu kommit så långt att e

X-ray spectroscopy of light kaonic atoms is a unique tool to provide precise information on the fundamental KN interaction at the low-energy limit and the in-medium nuclear interaction of K-. The future experiments of kaonic deuterium strong-interaction shift and width (SIDDHARTA-2 and J-PARC E57) can extract the isospin dependent K-N interaction at threshold. The high-resolution X-ray spectroscop

The inflammatory milieu plays an important role in colon cancer development and progression. Previously, we have shown that tumor-associated macrophages (TAMs), an important component of the tumor microenvironment, are enriched in tumors compared with normal tissue and confer a poorer prognosis. In the present study, we found that matrix metallopeptidase-9 (MMP-9), which degrades extracellular mat

Inflammatory cytokines are potential modulators of infarct progression in acute ischaemic stroke, and are therefore possible targets for future treatment strategies. Cytokine studies in animal models of surgically induced stroke may, however, be influenced by the fact that the surgical intervention itself contributes towards the cytokine response. Community-dwelling domestic dogs suffer from spont

Background & Aims: Little is known about the pathogenic mechanisms of gluten immunogenicity in patients with celiac disease. We studied temporal associations between infections and the development of celiac disease autoimmunity, and examined effects of HLA alleles, rotavirus vaccination status, and infant feeding. Methods: We monitored 6327 children in the United States and Europe carrying HLA

Several studies reported an association between CSF alpha-synuclein (α-syn) and tau in Alzheimer's disease (AD), and demonstrated the significance of α-syn in improving the diagnostic sensitivity/specificity of classical AD CSF biomarkers. In the current study, we measured CSF levels of different α-syn species in a cohort of AD patients (n = 225) who showed a CSF profile typical of AD at baseline