Lentz Dalsgaard (babywish04)

ic target in RA. Key Points • P2X7 variants (rs2393799, rs2230912, rs3751143) were associated with RA susceptibility in a sample of the Iranian population. • rs2393799 increases the risk of RA, while rs2230912 and rs3751143 decrease the risk of RA. • P2X7 expression was significantly upregulated in new RA patients compared to controls. Our results suggest that rs2393799, rs3751143, and rs2230912 variants of the P2X7 gene are associated with RA's susceptibility in a sample of the Iranian population. Also, P2X7 mRNA expression was higher in our new RA patients. The P2X7 receptor has been considered as a potential pharmacologic target in RA. Key Points • P2X7 variants (rs2393799, rs2230912, rs3751143) were associated with RA susceptibility in a sample of the Iranian population. • rs2393799 increases the risk of RA, while rs2230912 and rs3751143 decrease the risk of RA. • P2X7 expression was significantly upregulated in new RA patients compared to controls. Permanent vision loss (PVL) is a feared complication and a leading cause of morbidity in giant cell arteritis (GCA). The objective of this study is to describe visual manifestations and identify risk factors of ocular involvement in GCA. A retrospective database from a single vasculitis referral center was used. Descriptive statistics comparing patients with and without ocular involvement were performed. One hundred patients with GCA were included. Visual symptoms were present in 53% of patients at diagnosis and included blurred vision (30%), diplopia (16%), amaurosis fugax (14%), and blindness (19%). Out of 19 patients with blindness, 16 did not recover and had PVL. Patients with PVL were older (79.2 ± 6.7 vs 74.2 ± 7.6 years; p = 0.008) and more likely to have coronary artery disease (31% vs 10%; p = 0.018). However, they were less likely to have other cranial symptoms (81% vs 96%; p = 0.019), mainly headaches (64% vs 92%; p = 0.003). Risk factors associated with an abnormal ophthalmologic examinationnvolvement. Key points • Most patients with GCA and complete vision loss at presentation will not recover and evolve to have permanent vision loss. • A GCA patient with visual manifestations at presentation has more baseline vascular risk factors (diabetes, atherosclerosis) than patients without ocular involvement. • Patients with GCA and visual manifestations have fewer constitutional symptoms and lower inflammatory markers than patients without ocular involvement.Sexual dimorphism is common across the animal kingdom. Knowledge of the mechanisms of sexual size dimorphism is limited although it is important in biology and aquaculture. Tilapia is the common name for ~ 100 species of cichlid fish. Some are important aquaculture species and males outgrow females. To gain novel insights into the mechanisms underlying sexual size dimorphism, we analyzed the differences of brain transcriptomes between males and females in Mozambique tilapia and studied the function of the pro-opiomelanocortin (Pomc) gene in tilapia and zebrafish. The transcriptome analysis identified 123, 55, and 2706 sex-biased genes at 5, 30, and 90 dph (days post-hatch), respectively, indicating sexual dimorphism of gene expressions in the brain. The expression of Pomc in the tilapia brain was a female-biased at 30, 90, and 120 dph. An analysis of the DNA sequence located upstream of the tilapia Pomc transcriptional start site identified two estrogenic response elements. In vitro luciferase assay of the two elements revealed that β-estradiol significantly enhanced the expression of luciferase activity, suggesting that the expression of Pomc is mediated by estrogen. We knocked out Pomc in zebrafish using Crispr/Cas-9. The Pomc-knockout zebrafish showed faster growth and higher sensitivity to feeding as compared to the wild-type fish. Taken together, our results indicate that Pomc contributes to sexual size dimorphism and suggest that the high estrogen level in females promotes the