In vitro reactivity of mast cells in urticaria pigmentosa skin

The aim of our study was to evaluate the sensitivity of skin mast cells from urticaria pigmentosa (UP) patients to substance P (SP), tumor necrosis factor α (TNF-α) and anti-IgE, and to compare the sensitivity of these cells with that of skin mast cells from healthy human donors. Mast cells for in vitro functional studies were obtained using an enzymatic dispersion technique from skin biopsies (from 11 patients with UP and 11 healthy donors), and the reactivity of these cells was estimated on the basis of histamine release. Our observations indicated that UP skin mast cells and healthy skin mast cells had similar sensitivities to challenge with TNF-α at a concentration 10 ^–7 M (16.4% vs 15.2%) and with anti-IgE at a dilution 1:100 (41.0% vs 37.0%). However, UP mast cells showed considerably higher sensitivity to challenge with SP at a concentration 10 ^–4 M than healthy skin mast cells (20.0% vs 6.8%), and the difference was statistically significant ( P < 0.001). UP skin mast cells also demonstrated significantly higher spontaneous histamine release than healthy skin mast cells (32.1% vs 12.4%, P < 0.001). Our findings indicating UP skin mast cell sensitivity to SP might suggest that mechanisms involving neurogenic inflammation could contribute to the course of this disease. Received: 13 February 1997     

视网膜色素变性伴发高度近视的临床特征和诊治研究进展

视网膜色素变性（RP）是全球最常见的致盲性眼病之一,它具有高度遗传异质性。患者因感光细胞和色素上皮细胞功能逐渐丧失,表现出夜盲、管状视野,甚至失明。但研究表明,有些RP患者还会伴发其他眼病如白内障、高度近视,其中,RP伴发高度近视因对视力损害严重而不断被关注。笔者回顾了近年来RP伴发高度近视病例的相关报道,通过总结该类患者的临床特征和诊治研究进展,旨在了解该病的基因型-表型关系,为该病的诊断和遗传咨询提供一定的理论依据。     

The prognosis of CMV retinitis among patients with AIDS in Serbia.

BACKGROUND: Cytomegalovirus (CMV) end-organ diseases, including CMV retinitis, are major opportunistic events in terminal AIDS patients. METHODS: A retrospective study of 30 AIDS patients with CMV retinitis treated between 1997 and 2007 in Serbia was conducted to examine the prognosis and factors associated with survival. RESULTS: Eighteen (60%) patients survived the mean follow-up period of 46.4+/-36 months. Patients' sex, mode of HIV transmission or previous AIDS diagnosis did not affect survival. Bilateral CMV retinitis predicted dissemination of CMV disease and poor prognosis (OR 7.8, 95% CI 1.3-47.0, P=0.012), but was not associated with blindness (P=0.33). Among patients treated with HAART and CMV therapy the probability of surviving 10 years was 70%, while in those on CMV therapy alone, the median survival was 10 months (log rank P=0.00). However, HAART itself was not sufficient to prevent blindness and the major predictor of blindness was a baseline CD4 cell count of less than 50/muL (OR 6.8, 95% CI 1.1-41.8, P=0.03). After CMV disease, most patients suffered other opportunistic events regardless of HAART introduction. CONCLUSION: Even in the HAART era patients with advanced immunodeficiency and CMV retinitis may not escape from the high risk mortality group, while survivors commonly lose sight.     

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the most severe forms of the disease, X-linked retinitis pigmentosa. In this review, we highlight the current knowledge about the two gene products RPGR and RP2 and try to link genetic data from patients with functional data on the corresponding proteins. Based on the fact that recent gene therapeutic approaches for eye diseases are at a very promising stage, we discuss the potential of RPGR and RP2 as drug targets to treat retinitis pigmentosa.     

Epstein-Barr Virus DNA Quantification: An Adjunctive Diagnostic Marker for AIDS-Associated Lymphoma

We report an HIV-positive patient who developed a unilateral retinitis and subsequent intracranial lesions. The finding of Epstein Barr virus (EBV) DNA at a > 1-log greater concentration in the vitreous compared to blood raised the possibility of a primary CNS non-Hodgkin's lymphoma, which was subsequently confirmed on brain biopsy. EBV DNA quantification acted as a diagnostic marker that led to a change in the management of our patient.     

获得性免疫缺陷综合症与巨细胞病毒性视网膜炎

本文报告９例巨细胞病毒性视网膜炎，全部系获得性免疫缺陷综合症患者。此病病原为巨细胞病毒，人群中普遍感染率很高，一旦感染呈潜伏状，在身体免疫功能低下时发病，血循传播，可侵犯多种脏器。     

Deletion of prominin-1 in mice results in disrupted photoreceptor outer segment protein homeostasis

AIM: To illustrate the underlying mechanism how prominin-1 (also known as Prom1) mutation contribute to progressive photoreceptor degeneration. METHODS: A CRISPR-mediated Prom1 knockout (Prom1-KO) mice model in the C57BL/6 was generated and the photoreceptor degeneration phenotypes by means of structural and functional tests were demonstrated. Immunohistochemistry and immunoblot analysis were performed to reveal the localization and quantity of related outer segment (OS) proteins. RESULTS: The Prom1-KO mice developed the photoreceptor degeneration phenotype including the decreased outer nuclear layer (ONL) thickness and compromised electroretinogram amplitude. Immunohistochemistry analysis revealed impaired trafficking of photoreceptor OS proteins. Immunoblot data demonstrated decreased photoreceptor OS proteins. CONCLUSION: Prom1 deprivation causes progressive photoreceptor degeneration. Prom1 is essential for maintaining normal trafficking and normal quantity of photoreceptor OS proteins. The new light is shed on the pathogenic mechanism underlying photoreceptor degeneration caused by Prom1 mutation.     

Treatment of amblyopia after loss of vision in the healthy eye

In the years 1958 to 1978, 23 patients with amblyopia were treated because of loss or impending loss of vision in the healthy eye. the age range was 8 to 72 years, the mean age being 30.5 years. Fourteen patients lost vision in their healthy eye while nine patients had impending loss of vision but the good eye was finally saved. the therapy consisted of pleoptic treatment according to Bangerter. the number of treatment sessions per patient varied from 15 to 121, the mean being 54. the average duration of each treatment session was 1.5 hours. Before treatment the mean visual acuity was of the same magnitude in all age groups. the best results were obtained in the 8-20 age group, but visual acuity improved to a similar degree even in the 21-40 and 41-60 age groups. the mean observation periods varied from 4.4 in the youngest age group to 9.5 years in the 41-60 year group. No significant decline of vision occurred during the observation period in the group in which the healthy eye was lost. On the contrary, in the group in which the healthy eye was finally saved significant long-term improvement was found only in the group aged 20 years or less. the patients who were older than 21 years showed slight initial improvement, but the visual acuities returned to pretreatment level. After treatment, all patients in the 8-20 age group were able to continue their studies or return to work. 75% of the patients in the 21-40 age group were able to return to their previous work.     

Parallel visual processes in symmetry perception: Normality and pathology

Mirror symmetry is one of those regularities for which the visual system seems to have developed a special sensitivity. It is detected robustly and efficiently in a single glance, suggesting that the basic processes do not perform a serial, pointwise comparison of structural elements but rather operate in parallel. Psychophysical evidence relating to the processing mechanisms will be reviewed. Although the focus will be on symmetry perception in normal vision, interesting findings on symmetry perception in observers with deficient vision (e.g., retinitis pigmentosa, visual hemineglect) will also be touched upon briefly. This revised version was published online in July 2006 with corrections to the Cover Date.     

Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

BACKGROUND/AIMS—Tissue inhibitor of metalloproteinases-3 (TIMP-3) is normally synthesised by the retinal pigment epithelium (RPE) and deposited in Bruch's membrane. Mutations in the TIMP3 gene cause Sorsby's fundus dystrophy (SFD), which is characterised by thickening of Bruch's membrane, choroidal neovascularisation, and photoreceptor degeneration. To elucidate the role of TIMP-3 in human retinal degenerative diseases, we immunolocalised TIMP-3 in eyes with SFD caused by the Ser-181-Cys TIMP3 gene mutation or retinitis pigmentosa (RP; not caused by TIMP3 mutations).
METHODS—Standard light microscopic immunocytochemistry, including antigen retrieval, was used to localise TIMP-3 in paraffin sections of human eyes: two with SFD, three with different genetic forms of RP, and two normal.
RESULTS—In the SFD eyes, the thickened Bruch's membrane was strongly TIMP-3 positive except where RPE cells had degenerated. Similarly, in the RP eyes, Bruch's membrane was TIMP-3 positive except where RPE cells were lost, consistent with ongoing RPE mediated turnover of TIMP-3 in this region. In areas of total photoreceptor loss, migrated RPE cells formed cuffs around blood vessels in the RP retinas. Thick, TIMP-3 positive extracellular matrix (ECM) deposits associated with the migrated RPE cells occluded some vascular lumina, correlating with the observed loss of inner retinal neurons in RP.
CONCLUSIONS—TIMP-3 is a component of the increased ECM sequestered in Bruch's membrane in SFD. Further information is needed on normal TIMP-3/ECM interactions in Bruch's membrane and the effect of mutant TIMP-3 on this process. The finding of TIMP-3 accumulations in retinas with RP not caused by TIMP-3 mutations emphasises the importance of ECM remodelling in normal and diseased human eyes.

Keywords: tissue inhibitor of metalloproteinases-3; Sorsby's fundus dystrophy; retinitis pigmentosa; inherited retinal diseases