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Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of
We study a random surface representation of Wilson loops in Z(2) gauge theory. The weights consist of an area factor, which dominates at strong coupling, and an excluded volume factor flavouring crumpled surfaces. We examine the latter one in some detail in three as well as four dimensions by use of Monte Carlo methods. In three dimensions, the critical behaviour of the surfaces is found to be det
A Great Tit Parus major without any yellow pigment in the plumage was ringed in southern Swedish Lapland in 2006. Such pale birds are known to appear with a low frequency throughout the species’ range. Superficially they look like the eastern (sub)species Parus (major) minor. The focal bird was a yearling with a wing length well above that of minor so there is no reason to suspect eastern origin.
We have previously demonstrated that a topical microemulsion can attenuate symptoms and signs of seasonal allergic rhinitis. This likely reflects that the microemulsion interferes with the interaction between the allergen and the mucosa. Whether or not the finding translates to conditions caused by other inhaled agents such as house dust mite allergen is unknown. Patients with perennial allergic r
Urinary tract infections (UTIs) are associated with significant morbidity and high frequency of antibiotic prescription. Diagnosing UTI is often difficult, particularly in the critically ill patient and in patients with unspecific and mild symptoms. The standard rapid tests have limited value, and there is a need for more reliable diagnostic tools. Heparin-binding protein (HBP) is released from ne
BACKGROUND: Radiography alone will not detect all scaphoid fractures. There is a reported prevalence between 9 and 33% of occult scaphoid fractures. The evidence-based literature suggests that magnetic resonance imaging (MRI) is the most suitable secondary imaging modality due to the ability to evaluate the bone marrow directly and to also identify other injuries. However, there is no consensus on
PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This phenotype was less severe than that of Pdgfra(-/-) embryos. Pdgfc(-/-) Pdgfa(-/-
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell lines. These samples have a low mutation burden, with
Solid tumors are less oxygenated than their tissue of origin. Low intra-tumor oxygen levels are associated with worse outcome, increased metastatic potential and immature phenotype in breast cancer. We have reported that tumor hypoxia correlates to low differentiation status in breast cancer. Less is known about effects of hypoxia on non-malignant cells. Here we address whether hypoxia influences
This study examined human listeners’ ability to classify domestic cat vocalisations (meows) recorded in two different contexts; during feeding time (food related meows) and while waiting to visit a veterinarian (vet related meows). A pitch analysis showed a tendency for food related meows to have rising F0 contours, while vet related meows tended to have more falling F0 contours. 30 listeners judg
A number of microorganisms are capable of binding immunoglobulins (Igs) in a manner, which excludes binding to conventional antigen binding sites. Interaction of such bacterial proteins with surface immunoglobulins leads to polyclonal activation of B-lymphocytes. A recent example is Moraxella catarrhalis that binds to B lymphocytes in an IgD-dependent manner and induces proliferation and different
Abstract in Chinese 中文语用标记语"吧"的关联理论分析 Marita Ljungqvist 瑞典隆德大学 摘要 本文以关联理论为依据试图对汉语句末助词”吧”的用法进行全面的解释与分析。 结果表明，”吧” 在陈述句、疑问句与祈使句都具有类似的用法，即表示说话者面向听话者对自己表达的命题(陈述句、疑问句) 或言语行为(祈使句)之承诺。结果还表明”吧”有时同英文的像 yeah 、right 、innit 类似的所谓”tags” 的词语一样 起着鼓励听话者更积极/投入地参加会话的作用。 在这种语境里”吧”的出现表示礼貌而不一定意味着说话者要听话者回应或确认命题的真实价值。 关键词 句未助词、语用学、关联理论This paper aims to present a proposal for a relevance-theoretic description of the use of the particle ba in Mandarin Chinese. The result of the analyses of the data shows that ba is a pragmatic marker with a similar function in declaratives, interrogatives and imperatives, i.e. to indicate hearer-oriented weak commitment towards either the proposition expressed (declaratives, interrogatives) or t
Feedback with carry shift registers (FCSRs) have previously been available in two configurations, the Fibonacci and Galois architectures. Recently, a generalized and unifying FCSR structure and theory was presented. The new ring FCSR model repairs some weaknesses of the older architectures. Most notably, the carry cell bias property that was exploited for an attack on the eSTREAM final portfolio c
Depression is associated with an increased risk for stroke. The aim of this study was to examine whether demographic and socioeconomic factors modify this association.
This paper explores how men who perform intimate labour negotiate perceptions of themselves and their work through complex intersections of masculinity, proximity and propriety. Its focus is on the ways in which embodied organizational negotiations are shaped by gendered perceptions of bodily propriety in three examples of physically, sexually and/or emotionally intimate forms of labour: male mass
