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IMPORTANCE Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial. DESIGN, SETTING, AND PARTICIPANTS This prospective, longitudinal,

Galactic outflows driven by stellar feedback are crucial for explaining the inefficiency of star formation in galaxies. Although strong feedback can promote the formation of galactic discs by limiting star formation at early times and removing low angular momentum (AM) gas, it is not understood how the same feedback can result in diverse objects such as elliptical galaxies or razor thin spiral gal

This study attempts to reconcile competing positions in an important debate about the relationship between regime type and human development. We contend that this empirical relationship is contingent upon issues of conceptualization and measurement in democracy. First, the relationship is more likely to be perceived when democracy is measured in a nuanced fashion, taking account of gradations of d

This work presents an approach for radio-based localization in non-line-of-sight (NLOS) environments by leveraging a dual-polarization antenna array. By estimating the polarization of the received signal, it is possible to estimate the angle of reflection of a NLOS signal. An estimate of the position of the transmitter concerning the receiver can be obtained based on a joint estimation of the refl

Purpose: To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). Methods: This study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR

This article looks into the meaning of the concepts of sincere cooperation,mutual trust, and mutual recognition in EU social security coordination. Itanalyses the legislative choice of coordination as the main regulatory mechanism in the field, and examines the role of administrative cooperation. Furthermore, the article highlights the challenges that arise in situations where mutual recognition i

In this paper we present a study of global optimality conditions for Point Set Registration (PSR) with missing data. PSR is the problem of aligning multiple point clouds with an unknown target point cloud. Since non-linear rotation constraints are present the problem is inherently non-convex and typically relaxed by computing the Lagrange dual, which is a Semidefinite Program (SDP). In this work w

En bred tvärvetenskaplig analys av Malmö stads historia åren 1990-2020

By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic lupus erythematosus (SLE, OMIM 152700), we investigated the contribution of de novo variants to risk of SLE. We found de novo single nucleotide variants (SNVs) to be significantly enriched in gene promoters in SLE patients compared with healthy controls

Purpose: A systematic review was conducted to analyze the inter-rater reliability, cross-informant consistency, test-retest reliability, and temporal stability of the Strengths and Difficulties Questionnaire (SDQ), and its ability to discriminate. Method: We searched three databases for articles about the SDQ (parent, teacher, and self-report version), used samples of children up to age 18 and rep

Inledning till Malmö stads historia

The majority of Common Cranes (Grus grus) breeding in northern Europe are short- to medium-distance migrants that overwinter in southern Europe, northern Africa, and the Middle East. However, some individuals migrate longer distances to as far as Ethiopia. Using data from 18 satellite-tracked juvenile Common Cranes, we assessed (1) the length and landscape composition of the migratory routes used

Utvecklingen i Malmö skolor åren 1990-2020